bio 0.7.0
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- data/bin/bioruby +107 -0
- data/bin/br_biofetch.rb +59 -0
- data/bin/br_bioflat.rb +294 -0
- data/bin/br_biogetseq.rb +57 -0
- data/bin/br_pmfetch.rb +431 -0
- data/doc/BioRuby.rd.ja +225 -0
- data/doc/Changes-0.7.rd +236 -0
- data/doc/Design.rd.ja +341 -0
- data/doc/KEGG_API.rd +1437 -0
- data/doc/KEGG_API.rd.ja +1399 -0
- data/doc/TODO.rd.ja +138 -0
- data/doc/Tutorial.rd +1138 -0
- data/doc/Tutorial.rd.ja +2110 -0
- data/etc/bioinformatics/seqdatabase.ini +210 -0
- data/lib/bio.rb +256 -0
- data/lib/bio/alignment.rb +1906 -0
- data/lib/bio/appl/bl2seq/report.rb +350 -0
- data/lib/bio/appl/blast.rb +269 -0
- data/lib/bio/appl/blast/format0.rb +1402 -0
- data/lib/bio/appl/blast/format8.rb +95 -0
- data/lib/bio/appl/blast/report.rb +652 -0
- data/lib/bio/appl/blast/rexml.rb +151 -0
- data/lib/bio/appl/blast/wublast.rb +553 -0
- data/lib/bio/appl/blast/xmlparser.rb +222 -0
- data/lib/bio/appl/blat/report.rb +392 -0
- data/lib/bio/appl/clustalw.rb +191 -0
- data/lib/bio/appl/clustalw/report.rb +154 -0
- data/lib/bio/appl/emboss.rb +68 -0
- data/lib/bio/appl/fasta.rb +262 -0
- data/lib/bio/appl/fasta/format10.rb +428 -0
- data/lib/bio/appl/fasta/format6.rb +37 -0
- data/lib/bio/appl/genscan/report.rb +570 -0
- data/lib/bio/appl/hmmer.rb +129 -0
- data/lib/bio/appl/hmmer/report.rb +556 -0
- data/lib/bio/appl/mafft.rb +222 -0
- data/lib/bio/appl/mafft/report.rb +119 -0
- data/lib/bio/appl/psort.rb +555 -0
- data/lib/bio/appl/psort/report.rb +473 -0
- data/lib/bio/appl/sim4.rb +134 -0
- data/lib/bio/appl/sim4/report.rb +501 -0
- data/lib/bio/appl/sosui/report.rb +166 -0
- data/lib/bio/appl/spidey/report.rb +604 -0
- data/lib/bio/appl/targetp/report.rb +283 -0
- data/lib/bio/appl/tmhmm/report.rb +238 -0
- data/lib/bio/command.rb +166 -0
- data/lib/bio/data/aa.rb +354 -0
- data/lib/bio/data/codontable.rb +740 -0
- data/lib/bio/data/na.rb +226 -0
- data/lib/bio/db.rb +340 -0
- data/lib/bio/db/aaindex.rb +280 -0
- data/lib/bio/db/embl/common.rb +332 -0
- data/lib/bio/db/embl/embl.rb +446 -0
- data/lib/bio/db/embl/sptr.rb +954 -0
- data/lib/bio/db/embl/swissprot.rb +32 -0
- data/lib/bio/db/embl/trembl.rb +31 -0
- data/lib/bio/db/embl/uniprot.rb +32 -0
- data/lib/bio/db/fantom.rb +604 -0
- data/lib/bio/db/fasta.rb +869 -0
- data/lib/bio/db/genbank/common.rb +299 -0
- data/lib/bio/db/genbank/ddbj.rb +34 -0
- data/lib/bio/db/genbank/genbank.rb +354 -0
- data/lib/bio/db/genbank/genpept.rb +73 -0
- data/lib/bio/db/genbank/refseq.rb +31 -0
- data/lib/bio/db/gff.rb +106 -0
- data/lib/bio/db/go.rb +497 -0
- data/lib/bio/db/kegg/brite.rb +51 -0
- data/lib/bio/db/kegg/cell.rb +88 -0
- data/lib/bio/db/kegg/compound.rb +130 -0
- data/lib/bio/db/kegg/enzyme.rb +125 -0
- data/lib/bio/db/kegg/expression.rb +173 -0
- data/lib/bio/db/kegg/genes.rb +293 -0
- data/lib/bio/db/kegg/genome.rb +362 -0
- data/lib/bio/db/kegg/glycan.rb +213 -0
- data/lib/bio/db/kegg/keggtab.rb +418 -0
- data/lib/bio/db/kegg/kgml.rb +299 -0
- data/lib/bio/db/kegg/ko.rb +178 -0
- data/lib/bio/db/kegg/reaction.rb +97 -0
- data/lib/bio/db/litdb.rb +131 -0
- data/lib/bio/db/medline.rb +317 -0
- data/lib/bio/db/nbrf.rb +199 -0
- data/lib/bio/db/pdb.rb +38 -0
- data/lib/bio/db/pdb/atom.rb +60 -0
- data/lib/bio/db/pdb/chain.rb +117 -0
- data/lib/bio/db/pdb/model.rb +106 -0
- data/lib/bio/db/pdb/pdb.rb +1682 -0
- data/lib/bio/db/pdb/residue.rb +122 -0
- data/lib/bio/db/pdb/utils.rb +234 -0
- data/lib/bio/db/prosite.rb +616 -0
- data/lib/bio/db/rebase.rb +417 -0
- data/lib/bio/db/transfac.rb +387 -0
- data/lib/bio/feature.rb +201 -0
- data/lib/bio/io/brdb.rb +103 -0
- data/lib/bio/io/das.rb +471 -0
- data/lib/bio/io/dbget.rb +212 -0
- data/lib/bio/io/ddbjxml.rb +614 -0
- data/lib/bio/io/fastacmd.rb +123 -0
- data/lib/bio/io/fetch.rb +114 -0
- data/lib/bio/io/flatfile.rb +496 -0
- data/lib/bio/io/flatfile/bdb.rb +266 -0
- data/lib/bio/io/flatfile/index.rb +1308 -0
- data/lib/bio/io/flatfile/indexer.rb +778 -0
- data/lib/bio/io/higet.rb +92 -0
- data/lib/bio/io/keggapi.rb +863 -0
- data/lib/bio/io/pubmed.rb +189 -0
- data/lib/bio/io/registry.rb +308 -0
- data/lib/bio/io/soapwsdl.rb +114 -0
- data/lib/bio/io/sql.rb +428 -0
- data/lib/bio/location.rb +650 -0
- data/lib/bio/pathway.rb +991 -0
- data/lib/bio/reference.rb +308 -0
- data/lib/bio/sequence.rb +593 -0
- data/lib/bio/shell.rb +51 -0
- data/lib/bio/shell/core.rb +512 -0
- data/lib/bio/shell/plugin/codon.rb +228 -0
- data/lib/bio/shell/plugin/entry.rb +85 -0
- data/lib/bio/shell/plugin/flatfile.rb +119 -0
- data/lib/bio/shell/plugin/keggapi.rb +187 -0
- data/lib/bio/shell/plugin/midi.rb +448 -0
- data/lib/bio/shell/plugin/obda.rb +63 -0
- data/lib/bio/shell/plugin/seq.rb +238 -0
- data/lib/bio/shell/session.rb +214 -0
- data/lib/bio/util/color_scheme.rb +214 -0
- data/lib/bio/util/color_scheme/buried.rb +78 -0
- data/lib/bio/util/color_scheme/helix.rb +78 -0
- data/lib/bio/util/color_scheme/hydropathy.rb +83 -0
- data/lib/bio/util/color_scheme/nucleotide.rb +50 -0
- data/lib/bio/util/color_scheme/strand.rb +78 -0
- data/lib/bio/util/color_scheme/taylor.rb +69 -0
- data/lib/bio/util/color_scheme/turn.rb +78 -0
- data/lib/bio/util/color_scheme/zappo.rb +69 -0
- data/lib/bio/util/contingency_table.rb +337 -0
- data/lib/bio/util/sirna.rb +306 -0
- data/lib/bioruby.rb +34 -0
- data/sample/biofetch.rb +475 -0
- data/sample/color_scheme_na.rb +99 -0
- data/sample/dbget +37 -0
- data/sample/fasta2tab.rb +99 -0
- data/sample/fsplit.rb +51 -0
- data/sample/gb2fasta.rb +31 -0
- data/sample/gb2tab.rb +325 -0
- data/sample/gbtab2mysql.rb +161 -0
- data/sample/genes2nuc.rb +33 -0
- data/sample/genes2pep.rb +33 -0
- data/sample/genes2tab.rb +81 -0
- data/sample/genome2rb.rb +29 -0
- data/sample/genome2tab.rb +76 -0
- data/sample/goslim.rb +311 -0
- data/sample/gt2fasta.rb +47 -0
- data/sample/pmfetch.rb +42 -0
- data/sample/pmsearch.rb +42 -0
- data/sample/psortplot_html.rb +222 -0
- data/sample/ssearch2tab.rb +96 -0
- data/sample/tdiary.rb +158 -0
- data/sample/tfastx2tab.rb +100 -0
- data/sample/vs-genes.rb +212 -0
- data/test/data/SOSUI/sample.report +11 -0
- data/test/data/TMHMM/sample.report +21 -0
- data/test/data/blast/eco:b0002.faa +15 -0
- data/test/data/blast/eco:b0002.faa.m0 +128 -0
- data/test/data/blast/eco:b0002.faa.m7 +65 -0
- data/test/data/blast/eco:b0002.faa.m8 +1 -0
- data/test/data/embl/AB090716.embl +65 -0
- data/test/data/genscan/sample.report +63 -0
- data/test/data/prosite/prosite.dat +2233 -0
- data/test/data/refseq/nm_126355.entret +64 -0
- data/test/data/uniprot/p53_human.uniprot +1456 -0
- data/test/runner.rb +10 -0
- data/test/unit/bio/appl/blast/test_report.rb +427 -0
- data/test/unit/bio/appl/blast/test_xmlparser.rb +400 -0
- data/test/unit/bio/appl/genscan/test_report.rb +195 -0
- data/test/unit/bio/appl/sosui/test_report.rb +94 -0
- data/test/unit/bio/appl/targetp/test_report.rb +159 -0
- data/test/unit/bio/appl/test_blast.rb +159 -0
- data/test/unit/bio/appl/test_fasta.rb +142 -0
- data/test/unit/bio/appl/tmhmm/test_report.rb +139 -0
- data/test/unit/bio/data/test_aa.rb +103 -0
- data/test/unit/bio/data/test_codontable.rb +120 -0
- data/test/unit/bio/data/test_na.rb +89 -0
- data/test/unit/bio/db/embl/test_common.rb +130 -0
- data/test/unit/bio/db/embl/test_embl.rb +227 -0
- data/test/unit/bio/db/embl/test_sptr.rb +268 -0
- data/test/unit/bio/db/embl/test_uniprot.rb +44 -0
- data/test/unit/bio/db/kegg/test_genes.rb +58 -0
- data/test/unit/bio/db/test_fasta.rb +263 -0
- data/test/unit/bio/db/test_gff.rb +140 -0
- data/test/unit/bio/db/test_prosite.rb +1450 -0
- data/test/unit/bio/io/test_ddbjxml.rb +87 -0
- data/test/unit/bio/io/test_soapwsdl.rb +45 -0
- data/test/unit/bio/shell/plugin/test_seq.rb +175 -0
- data/test/unit/bio/test_alignment.rb +1028 -0
- data/test/unit/bio/test_command.rb +71 -0
- data/test/unit/bio/test_db.rb +109 -0
- data/test/unit/bio/test_feature.rb +128 -0
- data/test/unit/bio/test_location.rb +51 -0
- data/test/unit/bio/test_pathway.rb +485 -0
- data/test/unit/bio/test_sequence.rb +386 -0
- data/test/unit/bio/test_shell.rb +31 -0
- data/test/unit/bio/util/test_color_scheme.rb +45 -0
- data/test/unit/bio/util/test_contingency_table.rb +106 -0
- data/test/unit/bio/util/test_sirna.rb +258 -0
- metadata +295 -0
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LOCUS NM_126355 615 bp mRNA linear PLN 25-JAN-2005
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DEFINITION Arabidopsis thaliana Toll-Interleukin-Resistance (TIR)
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domain-containing protein (At2g03030) mRNA, complete cds.
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ACCESSION NM_126355
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VERSION NM_126355.1 GI:18395472
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KEYWORDS .
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SOURCE Arabidopsis thaliana (thale cress)
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ORGANISM Arabidopsis thaliana
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Eukaryota; Viridiplantae; Streptophyta; Embryophyta; Tracheophyta;
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Spermatophyta; Magnoliophyta; eudicotyledons; core eudicotyledons;
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rosids; eurosids II; Brassicales; Brassicaceae; Arabidopsis.
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COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final
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NCBI review. This record is derived from an annotated genomic
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sequence (NC_003071). The reference sequence was derived from
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mrna.At2g03030.1.
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FEATURES Location/Qualifiers
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source 1..615
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/organism="Arabidopsis thaliana"
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/mol_type="mRNA"
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/db_xref="taxon:3702"
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/chromosome="2"
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/map="unknown"
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/clone="CHR2v01212004"
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/ecotype="Columbia"
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gene 1..615
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/locus_tag="At2g03030"
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/note="synonym: T17M13.20; Toll-Interleukin-Resistance
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(TIR) domain-containing protein"
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/db_xref="GeneID:814832"
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CDS 1..615
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/locus_tag="At2g03030"
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/note="domain signature TIR exists, suggestive of a
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disease resistance protein;
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go_function: defense/immunity protein activity [goid
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0003793];
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go_process: defense response signaling pathway,
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resistance-gene dependent [goid 0009870]"
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/codon_start=1
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/product="Toll-Interleukin-Resistance (TIR)
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domain-containing protein"
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/protein_id="NP_178403.1"
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/db_xref="GI:15227520"
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/db_xref="GeneID:814832"
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/translation="MTFFSPTQVFLNYRGEQLRRSFVSHLIDAFERNEINFFVDKYEQ
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RGKDLKNLFLRIQESKIALAIFSTRYTESSWCLDELVKIKKLADKKKLHVIPIFYKVK
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VEDVRKQTGEFGDNFWTLAKVSSGDQIKKWKEALECIPNKMGLSLGDKSSEADFIKEV
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VKAVQCVVATIGLEEEEENHFGKKKRKDCKCELPDLKKSRTKKL"
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misc_feature 22..423
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/locus_tag="At2g03030"
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/note="TIR; Region: Toll - interleukin 1 - resistance"
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/db_xref="CDD:22729"
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ORIGIN
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1 atgacattct tctctcccac tcaggtgttt ttgaactaca ggggagaaca actgcgtcgc
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61 agcttcgtga gccacctcat tgatgccttt gaaaggaatg agatcaactt cttcgtagac
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121 aaatacgaac agagaggcaa agacctcaaa aatctctttc ttaggatcca agagtcgaag
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181 atcgcgcttg ccatcttctc aaccagatac acggagtcaa gctggtgttt ggatgagttg
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241 gtgaagataa agaaacttgc tgataaaaaa aaactccatg tcattccaat tttctacaag
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301 gtgaaggtag aagacgttcg aaaacagaca ggtgagtttg gtgacaactt ctggacgctg
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361 gcaaaggttt caagtggtga tcagatcaag aaatggaaag aagccttgga atgtatcccc
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421 aacaagatgg gtttgtcgtt gggagacaag agttctgaag cagatttcat caaggaagtt
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481 gttaaggcgg ttcagtgtgt tgtagcaacg attggacttg aggaagaaga agagaatcat
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541 tttgggaaaa agaagagaaa ggattgcaaa tgtgagcttc ctgatttgaa gaaaagcaga
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601 accaaaaagt tgtga
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//
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ID P53_HUMAN STANDARD; PRT; 393 AA.
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AC P04637; Q15086; Q15087; Q15088; Q16535; Q16807; Q16808; Q16809;
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AC Q16810; Q16811; Q16848; Q86UG1; Q8J016; Q99659; Q9BTM4; Q9HAQ8;
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AC Q9NP68; Q9NPJ2; Q9NZD0; Q9UBI2; Q9UQ61;
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DT 13-AUG-1987 (Rel. 05, Created)
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DT 01-MAR-1989 (Rel. 10, Last sequence update)
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DT 13-SEP-2005 (Rel. 48, Last annotation update)
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DE Cellular tumor antigen p53 (Tumor suppressor p53) (Phosphoprotein p53)
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DE (Antigen NY-CO-13).
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GN Name=TP53; Synonyms=P53;
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OS Homo sapiens (Human).
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OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
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OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae;
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OC Homo.
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OX NCBI_TaxID=9606;
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RN [1]
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RP NUCLEOTIDE SEQUENCE.
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RX MEDLINE=85230577; PubMed=4006916;
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RA Zakut-Houri R., Bienz-Tadmor B., Givol D., Oren M.;
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RT "Human p53 cellular tumor antigen: cDNA sequence and expression in COS
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RT cells.";
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RL EMBO J. 4:1251-1255(1985).
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RN [2]
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RP NUCLEOTIDE SEQUENCE.
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RX MEDLINE=87064416; PubMed=2946935;
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RA Lamb P., Crawford L.;
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RT "Characterization of the human p53 gene.";
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RL Mol. Cell. Biol. 6:1379-1385(1986).
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RN [3]
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RP NUCLEOTIDE SEQUENCE.
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RX MEDLINE=85267676; PubMed=3894933;
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RA Harlow E., Williamson N.M., Ralston R., Helfman D.M., Adams T.E.;
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RT "Molecular cloning and in vitro expression of a cDNA clone for human
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RT cellular tumor antigen p53.";
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RL Mol. Cell. Biol. 5:1601-1610(1985).
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RN [4]
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RP NUCLEOTIDE SEQUENCE.
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RX MEDLINE=87089826; PubMed=3025664;
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RA Harris N., Brill E., Shohat O., Prokocimer M., Wolf D., Arai N.,
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RA Rotter V.;
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RT "Molecular basis for heterogeneity of the human p53 protein.";
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RL Mol. Cell. Biol. 6:4650-4656(1986).
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RN [5]
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RP NUCLEOTIDE SEQUENCE.
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RX MEDLINE=89108008; PubMed=2905688; DOI=10.1016/0378-1119(88)90196-5;
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RA Buchman V.L., Chumakov P.M., Ninkina N.N., Samarina O.P.,
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RA Georgiev G.P.;
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RT "A variation in the structure of the protein-coding region of the
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RT human p53 gene.";
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RL Gene 70:245-252(1988).
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RN [6]
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RP NUCLEOTIDE SEQUENCE OF 101-393.
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RX MEDLINE=85126934; PubMed=6396087;
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RA Matlashewski G., Lamb P., Pim D., Peacock J., Crawford L.,
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RA Benchimol S.;
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RT "Isolation and characterization of a human p53 cDNA clone: expression
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RT of the human p53 gene.";
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RL EMBO J. 3:3257-3262(1984).
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RN [7]
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RP NUCLEOTIDE SEQUENCE, VARIANTS BURKITT'S LYMPHOMA, AND VARIANT ARG-72.
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RX MEDLINE=92007731; PubMed=1915267;
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RA Farrell P.J., Allan G., Shanahan F., Vousden K.H., Crook T.;
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RT "p53 is frequently mutated in Burkitt's lymphoma cell lines.";
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RL EMBO J. 10:2879-2887(1991).
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RN [8]
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RP NUCLEOTIDE SEQUENCE, AND VARIANTS ARG-72 AND LYS-286.
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RX MEDLINE=93303270; PubMed=8316628;
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RA Allalunis-Turner M.J., Barron G.M., Day R.S. III, Dobler K.D.,
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RA Mirzayans R.;
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RT "Isolation of two cell lines from a human malignant glioma specimen
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RT differing in sensitivity to radiation and chemotherapeutic drugs.";
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RL Radiat. Res. 134:349-354(1993).
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RN [9]
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RP NUCLEOTIDE SEQUENCE, AND VARIANT ARG-72.
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|
+
RX MEDLINE=21264809; PubMed=11058590; DOI=10.1074/jbc.M007140200;
|
76
|
+
RA Chang N.-S., Pratt N., Heath J., Schultz L., Sleve D., Carey G.B.,
|
77
|
+
RA Zevotek N.;
|
78
|
+
RT "Hyaluronidase induction of a WW domain-containing oxidoreductase that
|
79
|
+
RT enhances tumor necrosis factor cytotoxicity.";
|
80
|
+
RL J. Biol. Chem. 276:3361-3370(2001).
|
81
|
+
RN [10]
|
82
|
+
RP NUCLEOTIDE SEQUENCE.
|
83
|
+
RA Chumakov P.M., Almazov V.P., Jenkins J.R.;
|
84
|
+
RL Submitted (JUN-1991) to the EMBL/GenBank/DDBJ databases.
|
85
|
+
RN [11]
|
86
|
+
RP NUCLEOTIDE SEQUENCE.
|
87
|
+
RA Rozemuller E.H., Tilanus M.G.J.;
|
88
|
+
RT "P53 genomic sequence. Corrections and polymorphism.";
|
89
|
+
RL Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases.
|
90
|
+
RN [12]
|
91
|
+
RP NUCLEOTIDE SEQUENCE, AND VARIANTS SER-47; ARG-72; LYS-339 AND ALA-366.
|
92
|
+
RA Livingston R.J., Rieder M.J., Chung M.-W., Ritchie T.K., Olson A.N.,
|
93
|
+
RA Nguyen C.P., Gildersleeve H., Cassidy C.M., Johnson E.J.,
|
94
|
+
RA Swanson J.E., McFarland I., Yool B., Park C., Nickerson D.A.;
|
95
|
+
RT "NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department
|
96
|
+
RT of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
|
97
|
+
RL Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases.
|
98
|
+
RN [13]
|
99
|
+
RP NUCLEOTIDE SEQUENCE, AND VARIANTS ARG-72 AND LYS-286.
|
100
|
+
RX PubMed=11023613;
|
101
|
+
RA Anderson C.W., Allalunis-Turner M.J.;
|
102
|
+
RT "Human TP53 from the malignant glioma-derived cell lines M059J and
|
103
|
+
RT M059K has a cancer-associated mutation in exon 8.";
|
104
|
+
RL Radiat. Res. 154:473-476(2000).
|
105
|
+
RN [14]
|
106
|
+
RP NUCLEOTIDE SEQUENCE, AND VARIANTS ARG-72; HIS-273 AND SER-309.
|
107
|
+
RA Azuma K., Shichijo S., Itoh K.;
|
108
|
+
RT "Identification of a tumor-rejection antigen recognized by HLA-B46
|
109
|
+
RT restricted CTL.";
|
110
|
+
RL Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases.
|
111
|
+
RN [15]
|
112
|
+
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ARG-72 AND
|
113
|
+
RP ALA-278.
|
114
|
+
RC TISSUE=Kidney;
|
115
|
+
RX MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899;
|
116
|
+
RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G.,
|
117
|
+
RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D.,
|
118
|
+
RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K.,
|
119
|
+
RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F.,
|
120
|
+
RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L.,
|
121
|
+
RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E.,
|
122
|
+
RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C.,
|
123
|
+
RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J.,
|
124
|
+
RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H.,
|
125
|
+
RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W.,
|
126
|
+
RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A.,
|
127
|
+
RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A.,
|
128
|
+
RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G.,
|
129
|
+
RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C.,
|
130
|
+
RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M.,
|
131
|
+
RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E.,
|
132
|
+
RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.;
|
133
|
+
RT "Generation and initial analysis of more than 15,000 full-length human
|
134
|
+
RT and mouse cDNA sequences.";
|
135
|
+
RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002).
|
136
|
+
RN [16]
|
137
|
+
RP NUCLEOTIDE SEQUENCE OF 1-379, AND VARIANTS ARG-72 AND ASN-139.
|
138
|
+
RC TISSUE=Lung carcinoma;
|
139
|
+
RX PubMed=14660794; DOI=10.1073/pnas.2536558100;
|
140
|
+
RA Kanashiro C.A., Schally A.V., Groot K., Armatis P., Bernardino A.L.,
|
141
|
+
RA Varga J.L.;
|
142
|
+
RT "Inhibition of mutant p53 expression and growth of DMS-153 small cell
|
143
|
+
RT lung carcinoma by antagonists of growth hormone-releasing hormone and
|
144
|
+
RT bombesin.";
|
145
|
+
RL Proc. Natl. Acad. Sci. U.S.A. 100:15836-15841(2003).
|
146
|
+
RN [17]
|
147
|
+
RP NUCLEOTIDE SEQUENCE OF 126-185.
|
148
|
+
RA Pan X.L., Zhang A.H.;
|
149
|
+
RT "Study on the effect of tumor suppressor gene p53 in arsenism
|
150
|
+
RT patients.";
|
151
|
+
RL Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases.
|
152
|
+
RN [18]
|
153
|
+
RP NUCLEOTIDE SEQUENCE OF 261-298.
|
154
|
+
RC TISSUE=Blood;
|
155
|
+
RA Nimri L.F., Owais W., Momani E.;
|
156
|
+
RT "Detection of P53 gene mutations and serum p53 antibodies associated
|
157
|
+
RT with cigarette smoking.";
|
158
|
+
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
|
159
|
+
RN [19]
|
160
|
+
RP NUCLEOTIDE SEQUENCE OF 262-306.
|
161
|
+
RC TISSUE=Ovarian adenocarcinoma;
|
162
|
+
RA Filippini G., Soldati G.;
|
163
|
+
RL Submitted (JUL-1996) to the EMBL/GenBank/DDBJ databases.
|
164
|
+
RN [20]
|
165
|
+
RP NUCLEOTIDE SEQUENCE OF 225-260.
|
166
|
+
RC TISSUE=Glial cell, and Glial tumor;
|
167
|
+
RA Thompson-Hehir J., Davies M.P.A., Green J.A., Halliwell N.,
|
168
|
+
RA Joyce K.A., Salisbury J., Sibson D.R., Vergote I., Walker C.;
|
169
|
+
RT "Mutation detection utilizing a novel PCR approach for amplification
|
170
|
+
RT of the p53 gene from microdissected tissue: application to archival
|
171
|
+
RT tumor samples.";
|
172
|
+
RL Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
|
173
|
+
RN [21]
|
174
|
+
RP NUCLEOTIDE SEQUENCE OF 225-260.
|
175
|
+
RA Yavuz A.S., Farner N.L., Yavuz S., Grammer A.C., Girschick H.J.,
|
176
|
+
RA Lipsky P.E.;
|
177
|
+
RT "Bcl6 and P53 gene mutations in tonsillar B cells.";
|
178
|
+
RL Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
|
179
|
+
RN [22]
|
180
|
+
RP NUCLEOTIDE SEQUENCE OF 332-366.
|
181
|
+
RA Pinto E.M., Mendonca B.B., Latronico A.C.;
|
182
|
+
RT "Allelic variant in intron 9 of TP53 gene.";
|
183
|
+
RL Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases.
|
184
|
+
RN [23]
|
185
|
+
RP RNA-BINDING.
|
186
|
+
RX MEDLINE=91141509; PubMed=1705009;
|
187
|
+
RA Samad A., Carroll R.B.;
|
188
|
+
RT "The tumor suppressor p53 is bound to RNA by a stable covalent
|
189
|
+
RT linkage.";
|
190
|
+
RL Mol. Cell. Biol. 11:1598-1606(1991).
|
191
|
+
RN [24]
|
192
|
+
RP ALTERNATIVE SPLICING.
|
193
|
+
RX MEDLINE=96197761; PubMed=8632903;
|
194
|
+
RA Flaman J.-M., Waridel F., Estreicher A., Vannier A., Limacher J.-M.,
|
195
|
+
RA Gilbert D., Iggo R., Frebourg T.;
|
196
|
+
RT "The human tumour suppressor gene p53 is alternatively spliced in
|
197
|
+
RT normal cells.";
|
198
|
+
RL Oncogene 12:813-818(1996).
|
199
|
+
RN [25]
|
200
|
+
RP NUCLEAR LOCALIZATION SIGNAL.
|
201
|
+
RX MEDLINE=90191730; PubMed=2156209;
|
202
|
+
RA Addison C., Jenkins J.R., Sturzbecher H.-W.;
|
203
|
+
RT "The p53 nuclear localisation signal is structurally linked to a
|
204
|
+
RT p34cdc2 kinase motif.";
|
205
|
+
RL Oncogene 5:423-426(1990).
|
206
|
+
RN [26]
|
207
|
+
RP MINIMAL REPRESSION DOMAIN.
|
208
|
+
RX MEDLINE=21125692; PubMed=11007800; DOI=10.1074/jbc.M008231200;
|
209
|
+
RA Hong T.M., Chen J.J., Peck K., Yang P.C., Wu C.W.;
|
210
|
+
RT "p53 amino acids 339-346 represent the minimal p53 repression
|
211
|
+
RT domain.";
|
212
|
+
RL J. Biol. Chem. 276:1510-1515(2001).
|
213
|
+
RN [27]
|
214
|
+
RP INTERACTION WITH ING4.
|
215
|
+
RX MEDLINE=22635239; PubMed=12750254;
|
216
|
+
RA Shiseki M., Nagashima M., Pedeux R.M., Kitahama-Shiseki M., Miura K.,
|
217
|
+
RA Okamura S., Onogi H., Higashimoto Y., Appella E., Yokota J.,
|
218
|
+
RA Harris C.C.;
|
219
|
+
RT "p29ING4 and p28ING5 bind to p53 and p300, and enhance p53 activity.";
|
220
|
+
RL Cancer Res. 63:2373-2378(2003).
|
221
|
+
RN [28]
|
222
|
+
RP PHOSPHORYLATION BY P60/CDC2 AND CYCLIN B/CDC2.
|
223
|
+
RX MEDLINE=90280456; PubMed=2141171;
|
224
|
+
RA Bischoff J.R., Friedman P.N., Marshak D.R., Prives C., Beach D.;
|
225
|
+
RT "Human p53 is phosphorylated by p60-cdc2 and cyclin B-cdc2.";
|
226
|
+
RL Proc. Natl. Acad. Sci. U.S.A. 87:4766-4770(1990).
|
227
|
+
RN [29]
|
228
|
+
RP DEPHOSPHORYLATION BY PP2A.
|
229
|
+
RX MEDLINE=91172186; PubMed=1848668;
|
230
|
+
RA Scheidtmann K.H., Mumby M.C., Rundell K., Walter G.;
|
231
|
+
RT "Dephosphorylation of simian virus 40 large-T antigen and p53 protein
|
232
|
+
RT by protein phosphatase 2A: inhibition by small-t antigen.";
|
233
|
+
RL Mol. Cell. Biol. 11:1996-2003(1991).
|
234
|
+
RN [30]
|
235
|
+
RP O-GLYCOSYLATION.
|
236
|
+
RX MEDLINE=96197773; PubMed=8632915;
|
237
|
+
RA Shaw P., Freeman J., Bovey R., Iggo R.;
|
238
|
+
RT "Regulation of specific DNA binding by p53: evidence for a role for O-
|
239
|
+
RT glycosylation and charged residues at the carboxy-terminus.";
|
240
|
+
RL Oncogene 12:921-930(1996).
|
241
|
+
RN [31]
|
242
|
+
RP PHOSPHORYLATION BY PRPK.
|
243
|
+
RX MEDLINE=21570176; PubMed=11546806; DOI=10.1074/jbc.M105669200;
|
244
|
+
RA Abe Y., Matsumoto S., Wei S., Nezu K., Miyoshi A., Kito K., Ueda N.,
|
245
|
+
RA Shigemoto K., Hitsumoto Y., Nikawa J.-I., Enomoto Y.;
|
246
|
+
RT "Cloning and characterization of a p53-related protein kinase
|
247
|
+
RT expressed in interleukin-2-activated cytotoxic T-cells, epithelial
|
248
|
+
RT tumor cell lines, and the testes.";
|
249
|
+
RL J. Biol. Chem. 276:44003-44011(2001).
|
250
|
+
RN [32]
|
251
|
+
RP PHOSPHORYLATION SITE THR-18.
|
252
|
+
RX MEDLINE=20406546; PubMed=10951572; DOI=10.1038/sj.onc.1203709;
|
253
|
+
RA Lopez-Borges S., Lazo P.A.;
|
254
|
+
RT "The human vaccinia-related kinase 1 (VRK1) phosphorylates threonine-
|
255
|
+
RT 18 within the mdm-2 binding site of the p53 tumour suppressor
|
256
|
+
RT protein.";
|
257
|
+
RL Oncogene 19:3656-3664(2000).
|
258
|
+
RN [33]
|
259
|
+
RP IDENTIFICATION IN A COMPLEX WITH CABLES1 AND TP73.
|
260
|
+
RX MEDLINE=21659718; PubMed=11706030; DOI=10.1074/jbc.M108535200;
|
261
|
+
RA Tsuji K., Mizumoto K., Yamochi T., Nishimoto I., Matsuoka M.;
|
262
|
+
RT "Differential effect of ik3-1/cables on p53- and p73-induced cell
|
263
|
+
RT death.";
|
264
|
+
RL J. Biol. Chem. 277:2951-2957(2002).
|
265
|
+
RN [34]
|
266
|
+
RP PHOSPHORYLATION SITE THR-55, MUTAGENESIS OF THR-55, AND INTERACTION
|
267
|
+
RP WITH TAF1.
|
268
|
+
RX PubMed=15053879; DOI=10.1016/S1097-2765(04)00123-6;
|
269
|
+
RA Li H.-H., Li A.G., Sheppard H.M., Liu X.;
|
270
|
+
RT "Phosphorylation on Thr-55 by TAF1 mediates degradation of p53: a role
|
271
|
+
RT for TAF1 in cell G1 progression.";
|
272
|
+
RL Mol. Cell 13:867-878(2004).
|
273
|
+
RN [35]
|
274
|
+
RP ACETYLATION SITE LYS-305.
|
275
|
+
RX MEDLINE=22726738; PubMed=12724314; DOI=10.1074/jbc.M212574200;
|
276
|
+
RA Wang Y.H., Tsay Y.G., Tan B.C., Lo W.Y., Lee S.C.;
|
277
|
+
RT "Identification and characterization of a novel p300-mediated p53
|
278
|
+
RT acetylation site, lysine 305.";
|
279
|
+
RL J. Biol. Chem. 278:25568-25576(2003).
|
280
|
+
RN [36]
|
281
|
+
RP ACETYLATION SITES LYS-373 AND LYS-382.
|
282
|
+
RX MEDLINE=20123976; PubMed=10656795; DOI=10.1006/jmbi.1999.3415;
|
283
|
+
RA Abraham J., Kelly J., Thibault P., Benchimol S.;
|
284
|
+
RT "Post-translational modification of p53 protein in response to
|
285
|
+
RT ionizing radiation analyzed by mass spectrometry.";
|
286
|
+
RL J. Mol. Biol. 295:853-864(2000).
|
287
|
+
RN [37]
|
288
|
+
RP DEACETYLATION OF LYS-382 BY SIRT1.
|
289
|
+
RX MEDLINE=21526627; PubMed=11672523; DOI=10.1016/S0092-8674(01)00527-X;
|
290
|
+
RA Vaziri H., Dessain S.K., Ng Eaton E., Imai S.-I., Frye R.A.,
|
291
|
+
RA Pandita T.K., Guarente L., Weinberg R.A.;
|
292
|
+
RT "hSIR2(SIRT1) functions as an NAD-dependent p53 deacetylase.";
|
293
|
+
RL Cell 107:149-159(2001).
|
294
|
+
RN [38]
|
295
|
+
RP INTERACTION WITH HIPK2.
|
296
|
+
RX MEDLINE=22191252; PubMed=11925430; DOI=10.1074/jbc.M200153200;
|
297
|
+
RA Kim E.-J., Park J.-S., Um S.-J.;
|
298
|
+
RT "Identification and characterization of HIPK2 interacting with p73 and
|
299
|
+
RT modulating functions of the p53 family in vivo.";
|
300
|
+
RL J. Biol. Chem. 277:32020-32028(2002).
|
301
|
+
RN [39]
|
302
|
+
RP INTERACTION WITH HIPK2, PHOSPHORYLATION SITE SER-46, AND MUTAGENESIS
|
303
|
+
RP OF SER-46 AND LYS-382.
|
304
|
+
RX MEDLINE=21638685; PubMed=11740489; DOI=10.1038/ncb715;
|
305
|
+
RA Hofmann T.G., Moeller A., Sirma H., Zentgraf H., Taya Y., Droege W.,
|
306
|
+
RA Will H., Schmitz M.L.;
|
307
|
+
RT "Regulation of p53 activity by its interaction with homeodomain-
|
308
|
+
RT interacting protein kinase-2.";
|
309
|
+
RL Nat. Cell Biol. 4:1-10(2002).
|
310
|
+
RN [40]
|
311
|
+
RP INTERACTION WITH HIPK2, AND PHOSPHORYLATION SITE SER-46.
|
312
|
+
RX MEDLINE=21638694; PubMed=11780126; DOI=10.1038/ncb714;
|
313
|
+
RA D'Orazi G., Cecchinelli B., Bruno T., Manni I., Higashimoto Y.,
|
314
|
+
RA Saito S., Gostissa M., Coen S., Marchetti A., Del Sal G., Piaggio G.,
|
315
|
+
RA Fanciulli M., Appella E., Soddu S.;
|
316
|
+
RT "Homeodomain-interacting protein kinase-2 phosphorylates p53 at Ser 46
|
317
|
+
RT and mediates apoptosis.";
|
318
|
+
RL Nat. Cell Biol. 4:11-19(2002).
|
319
|
+
RN [41]
|
320
|
+
RP INTERACTION WITH P53DINP1.
|
321
|
+
RX MEDLINE=22863074; PubMed=12851404; DOI=10.1074/jbc.M301979200;
|
322
|
+
RA Tomasini R., Samir A.A., Carrier A., Isnardon D., Cecchinelli B.,
|
323
|
+
RA Soddu S., Malissen B., Dagorn J.-C., Iovanna J.L., Dusetti N.J.;
|
324
|
+
RT "TP53INP1s and homeodomain-interacting protein kinase-2 (HIPK2) are
|
325
|
+
RT partners in regulating p53 activity.";
|
326
|
+
RL J. Biol. Chem. 278:37722-37729(2003).
|
327
|
+
RN [42]
|
328
|
+
RP INTERACTION WITH HIPK1.
|
329
|
+
RX MEDLINE=22608637; PubMed=12702766; DOI=10.1073/pnas.0530308100;
|
330
|
+
RA Kondo S., Lu Y., Debbas M., Lin A.W., Sarosi I., Itie A., Wakeham A.,
|
331
|
+
RA Tuan J., Saris C., Elliott G., Ma W., Benchimol S., Lowe S.W.,
|
332
|
+
RA Mak T.W., Thukral S.K.;
|
333
|
+
RT "Characterization of cells and gene-targeted mice deficient for the
|
334
|
+
RT p53-binding kinase homeodomain-interacting protein kinase 1 (HIPK1).";
|
335
|
+
RL Proc. Natl. Acad. Sci. U.S.A. 100:5431-5436(2003).
|
336
|
+
RN [43]
|
337
|
+
RP INTERACTIONS WITH HRMT1L2; EP300 AND CARM1, AND FUNCTION.
|
338
|
+
RX PubMed=15186775; DOI=10.1016/j.cell.2004.05.009;
|
339
|
+
RA An W., Kim J., Roeder R.G.;
|
340
|
+
RT "Ordered cooperative functions of PRMT1, p300, and CARM1 in
|
341
|
+
RT transcriptional activation by p53.";
|
342
|
+
RL Cell 117:735-748(2004).
|
343
|
+
RN [44]
|
344
|
+
RP NUCLEOCYTOPLASMIC SHUTTLING, AND NUCLEAR EXPORT SIGNAL.
|
345
|
+
RX MEDLINE=22825602; PubMed=12944468;
|
346
|
+
RX DOI=10.1128/MCB.23.18.6396-6405.2003;
|
347
|
+
RA O'Keefe K., Li H., Zhang Y.;
|
348
|
+
RT "Nucleocytoplasmic shuttling of p53 is essential for MDM2-mediated
|
349
|
+
RT cytoplasmic degradation but not ubiquitination.";
|
350
|
+
RL Mol. Cell. Biol. 23:6396-6405(2003).
|
351
|
+
RN [45]
|
352
|
+
RP REVIEW ON ZINC-BINDING PROPERTIES.
|
353
|
+
RX MEDLINE=21438235; PubMed=11554448; DOI=10.1089/15230860152542961;
|
354
|
+
RA Hainaut P., Mann K.;
|
355
|
+
RT "Zinc binding and redox control of p53 structure and function.";
|
356
|
+
RL Antioxid. Redox Signal. 3:611-623(2001).
|
357
|
+
RN [46]
|
358
|
+
RP STRUCTURE BY NMR OF 319-360.
|
359
|
+
RX MEDLINE=94294808; PubMed=8023159;
|
360
|
+
RA Clore G.M., Omichinski J.G., Sakaguchi K., Zambrano N., Sakamoto H.,
|
361
|
+
RA Appella E., Gronenborn A.M.;
|
362
|
+
RT "High-resolution structure of the oligomerization domain of p53 by
|
363
|
+
RT multidimensional NMR.";
|
364
|
+
RL Science 265:386-391(1994).
|
365
|
+
RN [47]
|
366
|
+
RP STRUCTURE BY NMR OF 325-355.
|
367
|
+
RX MEDLINE=95292092; PubMed=7773777;
|
368
|
+
RA Lee W., Harvey T.S., Yin Y., Yau P., Litchfield D., Arrowsmith C.H.;
|
369
|
+
RT "Solution structure of the tetrameric minimum transforming domain of
|
370
|
+
RT p53.";
|
371
|
+
RL Nat. Struct. Biol. 1:877-890(1994).
|
372
|
+
RN [48]
|
373
|
+
RP STRUCTURE BY NMR OF 326-354.
|
374
|
+
RX MEDLINE=98026899; PubMed=9321402; DOI=10.1093/emboj/16.20.6230;
|
375
|
+
RA McCoy M., Stavridi E.S., Waterman J.L., Wieczorek A.M., Opella S.J.,
|
376
|
+
RA Halazonetis T.D.;
|
377
|
+
RT "Hydrophobic side-chain size is a determinant of the three-dimensional
|
378
|
+
RT structure of the p53 oligomerization domain.";
|
379
|
+
RL EMBO J. 16:6230-6236(1997).
|
380
|
+
RN [49]
|
381
|
+
RP X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 94-289.
|
382
|
+
RX MEDLINE=94294806; PubMed=8023157;
|
383
|
+
RA Cho Y., Gorina S., Jeffrey P.D., Pavletich N.P.;
|
384
|
+
RT "Crystal structure of a p53 tumor suppressor-DNA complex:
|
385
|
+
RT understanding tumorigenic mutations.";
|
386
|
+
RL Science 265:346-355(1994).
|
387
|
+
RN [50]
|
388
|
+
RP X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 325-356.
|
389
|
+
RX MEDLINE=95184011; PubMed=7878469;
|
390
|
+
RA Jeffrey P.D., Gorina S., Pavletich N.P.;
|
391
|
+
RT "Crystal structure of the tetramerization domain of the p53 tumor
|
392
|
+
RT suppressor at 1.7 angstroms.";
|
393
|
+
RL Science 267:1498-1502(1995).
|
394
|
+
RN [51]
|
395
|
+
RP X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 13-29 IN COMPLEX WITH MDM2.
|
396
|
+
RX MEDLINE=97081050; PubMed=8875929; DOI=10.1126/science.274.5289.948;
|
397
|
+
RA Kussie P.H., Gorina S., Marechal V., Elenbaas B., Moreau J.,
|
398
|
+
RA Levine A.J., Pavletich N.P.;
|
399
|
+
RT "Structure of the MDM2 oncoprotein bound to the p53 tumor suppressor
|
400
|
+
RT transactivation domain.";
|
401
|
+
RL Science 274:948-953(1996).
|
402
|
+
RN [52]
|
403
|
+
RP X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 97-287 IN COMPLEX WITH 53BP2.
|
404
|
+
RX MEDLINE=97035414; PubMed=8875926; DOI=10.1126/science.274.5289.1001;
|
405
|
+
RA Gorina S., Pavletich N.P.;
|
406
|
+
RT "Structure of the p53 tumor suppressor bound to the ankyrin and SH3
|
407
|
+
RT domains of 53BP2.";
|
408
|
+
RL Science 274:1001-1005(1996).
|
409
|
+
RN [53]
|
410
|
+
RP REVIEW.
|
411
|
+
RX MEDLINE=94090335; PubMed=8266092;
|
412
|
+
RA Harris C.C.;
|
413
|
+
RT "p53: at the crossroads of molecular carcinogenesis and risk
|
414
|
+
RT assessment.";
|
415
|
+
RL Science 262:1980-1981(1993).
|
416
|
+
RN [54]
|
417
|
+
RP REVIEW ON VARIANTS.
|
418
|
+
RX MEDLINE=91289156; PubMed=1905840;
|
419
|
+
RA Hoolstein M., Sidransky D., Vogelstein B., Harris C.C.;
|
420
|
+
RT "p53 mutations in human cancers.";
|
421
|
+
RL Science 253:49-53(1991).
|
422
|
+
RN [55]
|
423
|
+
RP REVIEW ON VARIANTS.
|
424
|
+
RX MEDLINE=96271983; PubMed=8829653;
|
425
|
+
RX DOI=10.1002/(SICI)1098-1004(1996)7:3<202::AID-HUMU4>3.3.CO;2-5;
|
426
|
+
RA de Vries E.M.G., Ricke D.O., de Vries T.N., Hartmann A., Blaszyk H.,
|
427
|
+
RA Liao D., Soussi T., Kovach J.S., Sommer S.S.;
|
428
|
+
RT "Database of mutations in the p53 and APC tumor suppressor genes
|
429
|
+
RT designed to facilitate molecular epidemiological analyses.";
|
430
|
+
RL Hum. Mutat. 7:202-213(1996).
|
431
|
+
RN [56]
|
432
|
+
RP VARIANT ARG-72.
|
433
|
+
RX MEDLINE=91153807; PubMed=1999338; DOI=10.1007/BF00201836;
|
434
|
+
RA Olschwang S., Laurent-Puig P., Vassal A., Salmon R.-J., Thomas G.;
|
435
|
+
RT "Characterization of a frequent polymorphism in the coding sequence of
|
436
|
+
RT the Tp53 gene in colonic cancer patients and a control population.";
|
437
|
+
RL Hum. Genet. 86:369-370(1991).
|
438
|
+
RN [57]
|
439
|
+
RP VARIANT LFS THR-133.
|
440
|
+
RX MEDLINE=92034774; PubMed=1933902;
|
441
|
+
RA Law J.C., Strong L.C., Chidambaram A., Ferrell R.E.;
|
442
|
+
RT "A germ line mutation in exon 5 of the p53 gene in an extended cancer
|
443
|
+
RT family.";
|
444
|
+
RL Cancer Res. 51:6385-6387(1991).
|
445
|
+
RN [58]
|
446
|
+
RP VARIANTS LFS CYS-245; TRP-248; PRO-252 AND LYS-258.
|
447
|
+
RX MEDLINE=91057657; PubMed=1978757;
|
448
|
+
RA Malkin D., Li F.P., Strong L.C., Fraumeni J.F. Jr., Nelson C.E.,
|
449
|
+
RA Kim D.H., Kassel J., Gryka M.A., Bischoff F.Z., Tainsky M.A.,
|
450
|
+
RA Friend S.H.;
|
451
|
+
RT "Germ line p53 mutations in a familial syndrome of breast cancer,
|
452
|
+
RT sarcomas, and other neoplasms.";
|
453
|
+
RL Science 250:1233-1238(1990).
|
454
|
+
RN [59]
|
455
|
+
RP VARIANT LFS ASP-245.
|
456
|
+
RX MEDLINE=91080929; PubMed=2259385; DOI=10.1038/348747a0;
|
457
|
+
RA Srivastava S., Zou Z., Pirollo K., Blattner W., Chang E.H.;
|
458
|
+
RT "Germ-line transmission of a mutated p53 gene in a cancer-prone family
|
459
|
+
RT with Li-Fraumeni syndrome.";
|
460
|
+
RL Nature 348:747-749(1990).
|
461
|
+
RN [60]
|
462
|
+
RP VARIANT LFS LEU-272.
|
463
|
+
RX MEDLINE=92147883; PubMed=1737852;
|
464
|
+
RA Felix C.A., Nau M.M., Takahashi T., Mitsudomi T., Chiba I.,
|
465
|
+
RA Poplack D.G., Reaman G.H., Cole D.E., Letterio J.J., Whang-Peng J.,
|
466
|
+
RA Knutsen T., Minna J.D.;
|
467
|
+
RT "Hereditary and acquired p53 gene mutations in childhood acute
|
468
|
+
RT lymphoblastic leukemia.";
|
469
|
+
RL J. Clin. Invest. 89:640-647(1992).
|
470
|
+
RN [61]
|
471
|
+
RP VARIANTS LFS HIS-273 AND VAL-325.
|
472
|
+
RX MEDLINE=92228023; PubMed=1565144;
|
473
|
+
RA Malkin D., Jolly K.W., Barbier N., Look A.T., Friend S.H.,
|
474
|
+
RA Gebhardt M.C., Andersen T.I., Boerresen A.-L., Li F.P., Garber J.,
|
475
|
+
RA Strong L.C.;
|
476
|
+
RT "Germline mutations of the p53 tumor-suppressor gene in children and
|
477
|
+
RT young adults with second malignant neoplasms.";
|
478
|
+
RL N. Engl. J. Med. 326:1309-1315(1992).
|
479
|
+
RN [62]
|
480
|
+
RP VARIANTS BREAST TUMORS GLN-132; SER-249; LYS-280 AND LYS-285.
|
481
|
+
RX MEDLINE=90295284; PubMed=1694291;
|
482
|
+
RA Bartek J., Iggo R., Gannon J., Lane D.P.;
|
483
|
+
RT "Genetic and immunochemical analysis of mutant p53 in human breast
|
484
|
+
RT cancer cell lines.";
|
485
|
+
RL Oncogene 5:893-899(1990).
|
486
|
+
RN [63]
|
487
|
+
RP VARIANTS COLON TUMORS PHE-241 AND HIS-273.
|
488
|
+
RX MEDLINE=91017544; PubMed=1699228;
|
489
|
+
RA Rodrigues N.R., Rowan A., Smith M.E.F., Kerr I.B., Bodmer W.F.,
|
490
|
+
RA Gannon J.V., Lane D.P.;
|
491
|
+
RT "p53 mutations in colorectal cancer.";
|
492
|
+
RL Proc. Natl. Acad. Sci. U.S.A. 87:7555-7559(1990).
|
493
|
+
RN [64]
|
494
|
+
RP VARIANTS ESOPHAGUS TUMOR VAL-154; VAL-245; GLN-248; LEU-278 AND
|
495
|
+
RP SER-278.
|
496
|
+
RX MEDLINE=91088630; PubMed=2263646;
|
497
|
+
RA Hollstein M.C., Metcalf R.A., Welsh J.A., Montesano R., Harris C.C.;
|
498
|
+
RT "Frequent mutation of the p53 gene in human esophageal cancer.";
|
499
|
+
RL Proc. Natl. Acad. Sci. U.S.A. 87:9958-9961(1990).
|
500
|
+
RN [65]
|
501
|
+
RP VARIANTS COLORECTAL CANCER MUTATIONS.
|
502
|
+
RX MEDLINE=91282784; PubMed=1647768;
|
503
|
+
RA Ishioka C., Sato T., Gamoh M., Suzuki T., Shibata H., Kanamaru R.,
|
504
|
+
RA Wakui A., Yamazaki T.;
|
505
|
+
RT "Mutations of the P53 gene, including an intronic point mutation, in
|
506
|
+
RT colorectal tumors.";
|
507
|
+
RL Biochem. Biophys. Res. Commun. 177:901-906(1991).
|
508
|
+
RN [66]
|
509
|
+
RP VARIANTS ESOPHAGUS TUMORS LEU-152; ALA-155; HIS-175; PHE-176 AND
|
510
|
+
RP HIS-273.
|
511
|
+
RX MEDLINE=91330175; PubMed=1868473;
|
512
|
+
RA Casson A.G., Mukhopadhyay T., Cleary K.R., Ro J.Y., Levin B.,
|
513
|
+
RA Roth J.A.;
|
514
|
+
RT "p53 gene mutations in Barrett's epithelium and esophageal cancer.";
|
515
|
+
RL Cancer Res. 51:4495-4499(1991).
|
516
|
+
RN [67]
|
517
|
+
RP VARIANTS HEPATOCELLULAR CARCINOMAS MUTATIONS IN CHINA.
|
518
|
+
RX MEDLINE=91187113; PubMed=1849234; DOI=10.1038/350427a0;
|
519
|
+
RA Hsu I.C., Metcalf R.A., Sun T., Welsh J.A., Wang N.J., Harris C.C.;
|
520
|
+
RT "Mutational hotspot in the p53 gene in human hepatocellular
|
521
|
+
RT carcinomas.";
|
522
|
+
RL Nature 350:427-428(1991).
|
523
|
+
RN [68]
|
524
|
+
RP VARIANTS HEPATOCELLULAR CARCINOMAS MUTATIONS IN SOUTH AFRICA.
|
525
|
+
RX MEDLINE=91187114; PubMed=1672732; DOI=10.1038/350429a0;
|
526
|
+
RA Bressac B., Kew M., Wands J., Ozturk M.;
|
527
|
+
RT "Selective G to T mutations of p53 gene in hepatocellular carcinoma
|
528
|
+
RT from southern Africa.";
|
529
|
+
RL Nature 350:429-431(1991).
|
530
|
+
RN [69]
|
531
|
+
RP VARIANTS HNSCC PHE-176; PHE-242; CYS-245; LEU-248 AND HIS-273.
|
532
|
+
RX MEDLINE=93007999; PubMed=1394225;
|
533
|
+
RA Somers K.D., Merrick M.A., Lopez M.E., Incognito L.S., Schechter G.L.,
|
534
|
+
RA Casey G.;
|
535
|
+
RT "Frequent p53 mutations in head and neck cancer.";
|
536
|
+
RL Cancer Res. 52:5997-6000(1992).
|
537
|
+
RN [70]
|
538
|
+
RP VARIANTS ANOGENITAL CARCINOMAS.
|
539
|
+
RX MEDLINE=93010989; PubMed=1327751;
|
540
|
+
RA Crook T., Vousden K.H.;
|
541
|
+
RT "Properties of p53 mutations detected in primary and secondary
|
542
|
+
RT cervical cancers suggest mechanisms of metastasis and involvement of
|
543
|
+
RT environmental carcinogens.";
|
544
|
+
RL EMBO J. 11:3935-3940(1992).
|
545
|
+
RN [71]
|
546
|
+
RP VARIANTS ORAL SQUAMOUS CELL CARCINOMA CYS-205; GLU-281 AND LYS-285.
|
547
|
+
RX MEDLINE=93093790; PubMed=1459726;
|
548
|
+
RA Sakai E., Rikimaru K., Ueda M., Matsumoto Y., Ishii N., Enomoto S.,
|
549
|
+
RA Yamamoto H., Tsuchida N.;
|
550
|
+
RT "The p53 tumor-suppressor gene and ras oncogene mutations in oral
|
551
|
+
RT squamous-cell carcinoma.";
|
552
|
+
RL Int. J. Cancer 52:867-872(1992).
|
553
|
+
RN [72]
|
554
|
+
RP VARIANT PRO-HIS-PRO-178 INS.
|
555
|
+
RX MEDLINE=93265016; PubMed=1303181;
|
556
|
+
RA Bhatia K., Guiterrez M.I., Magrath I.T.;
|
557
|
+
RT "A novel mutation in the p53 gene in a Burkitt's lymphoma cell line.";
|
558
|
+
RL Hum. Mol. Genet. 1:207-208(1992).
|
559
|
+
RN [73]
|
560
|
+
RP VARIANTS BURKITT'S LYMPHOMAS.
|
561
|
+
RX MEDLINE=93064692; PubMed=1437144;
|
562
|
+
RA Duthu A., Debuire B., Romano J.W., Ehrhart J.C., Fiscella M., May E.,
|
563
|
+
RA Appella E., May P.;
|
564
|
+
RT "p53 mutations in Raji cells: characterization and localization
|
565
|
+
RT relative to other Burkitt's lymphomas.";
|
566
|
+
RL Oncogene 7:2161-2167(1992).
|
567
|
+
RN [74]
|
568
|
+
RP VARIANT NASOPHARYNGEAL CARCINOMA THR-280.
|
569
|
+
RX MEDLINE=92335329; PubMed=1631151;
|
570
|
+
RA Sun Y., Hegamyer G., Heng Y.-J., Hildesheim A., Chen J.-Y., Cao Y.,
|
571
|
+
RA Yao K.-T., Colburn N.H.;
|
572
|
+
RT "An infrequent point mutation of the p53 gene in human nasopharyngeal
|
573
|
+
RT carcinoma.";
|
574
|
+
RL Proc. Natl. Acad. Sci. U.S.A. 89:6516-6520(1992).
|
575
|
+
RN [75]
|
576
|
+
RP VARIANTS HNSCC.
|
577
|
+
RX MEDLINE=93235942; PubMed=7682763;
|
578
|
+
RA Caamano J., Zhang S.Y., Rosvold E.A., Bauer B., Klein-Szanto A.J.P.;
|
579
|
+
RT "p53 alterations in human squamous cell carcinomas and carcinoma cell
|
580
|
+
RT lines.";
|
581
|
+
RL Am. J. Pathol. 142:1131-1139(1993).
|
582
|
+
RN [76]
|
583
|
+
RP VARIANTS HNSCC.
|
584
|
+
RX MEDLINE=94006220; PubMed=8402617;
|
585
|
+
RA Boyle J.O., Hakim J., Koch W., van der Riet P., Hruban R.H., Roa R.A.,
|
586
|
+
RA Correo R., Eby Y.J., Ruppert J.M., Sidransky D.;
|
587
|
+
RT "The incidence of p53 mutations increases with progression of head and
|
588
|
+
RT neck cancer.";
|
589
|
+
RL Cancer Res. 53:4477-4480(1993).
|
590
|
+
RN [77]
|
591
|
+
RP VARIANTS COLON TUMORS.
|
592
|
+
RX MEDLINE=93330562; PubMed=8336944;
|
593
|
+
RA Hamelin R., Jego N., Laurent-Puig P., Vidaud M., Thomas G.;
|
594
|
+
RT "Efficient screening of p53 mutations by denaturing gradient gel
|
595
|
+
RT electrophoresis in colorectal tumors.";
|
596
|
+
RL Oncogene 8:2213-2220(1993).
|
597
|
+
RN [78]
|
598
|
+
RP CHARACTERIZATION OF VARIANT ALA-143.
|
599
|
+
RX MEDLINE=94283378; PubMed=8013454;
|
600
|
+
RA Zhang W., Guo X.-Y., Hu G.-Y., Liu W.-B., Shay J.W., Deisseroth A.B.;
|
601
|
+
RT "A temperature-sensitive mutant of human p53.";
|
602
|
+
RL EMBO J. 13:2535-2544(1994).
|
603
|
+
RN [79]
|
604
|
+
RP VARIANTS LFS HIS-175; ARG-193; GLN-248; CYS-273 AND TYR-275.
|
605
|
+
RX MEDLINE=95193787; PubMed=7887414;
|
606
|
+
RA Frebourg T., Barbier N., Yan Y.-X., Garber J.E., Dreyfus M.,
|
607
|
+
RA Fraumeni J.F. Jr., Li F.P., Friend S.H.;
|
608
|
+
RT "Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.";
|
609
|
+
RL Am. J. Hum. Genet. 56:608-615(1995).
|
610
|
+
RN [80]
|
611
|
+
RP VARIANT LFS HIS-175.
|
612
|
+
RX MEDLINE=96423319; PubMed=8825920;
|
613
|
+
RA Varley J.M., McGrown G., Thorncroft M., Tricker K.J., Teare M.D.,
|
614
|
+
RA Santibanez-Koref M.F., Houlston R.S., Martin J., Birch J.M.,
|
615
|
+
RA Evans D.G.R.;
|
616
|
+
RT "An extended Li-Fraumeni kindred with gastric carcinoma and a codon
|
617
|
+
RT 175 mutation in TP53.";
|
618
|
+
RL J. Med. Genet. 32:942-945(1995).
|
619
|
+
RN [81]
|
620
|
+
RP VARIANTS ESOPHAGEAL ADENOCARCINOMA PHE-176; SER-245; TRP-248; TRP-282
|
621
|
+
RP AND GLN-286.
|
622
|
+
RX MEDLINE=96233927; PubMed=8829627;
|
623
|
+
RX DOI=10.1002/(SICI)1098-1004(1996)7:2<109::AID-HUMU4>3.3.CO;2-0;
|
624
|
+
RA Audrezet M.-P., Robaszkiewicz M., Mercier B., Nousbaum J.-B.,
|
625
|
+
RA Hardy E., Bail J.-P., Volant A., Lozac'H P., Gouerou H., Ferec C.;
|
626
|
+
RT "Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.";
|
627
|
+
RL Hum. Mutat. 7:109-113(1996).
|
628
|
+
RN [82]
|
629
|
+
RP VARIANTS COLORECTAL TUMORS.
|
630
|
+
RX MEDLINE=97255965; PubMed=9101296;
|
631
|
+
RX DOI=10.1002/(SICI)1098-1004(1997)9:4<348::AID-HUMU8>3.3.CO;2-7;
|
632
|
+
RA Guldberg P., Nedergaard T., Nielsen H.J., Olsen A.C., Ahrenkiel V.,
|
633
|
+
RA Zeuthen J.;
|
634
|
+
RT "Single-step DGGE-based mutation scanning of the p53 gene: application
|
635
|
+
RT to genetic diagnosis of colorectal cancer.";
|
636
|
+
RL Hum. Mutat. 9:348-355(1997).
|
637
|
+
RN [83]
|
638
|
+
RP VARIANT COLORECTAL CARCINOMA ILE-157.
|
639
|
+
RX MEDLINE=98080146; PubMed=9419979; DOI=10.1038/sj.onc.1201668;
|
640
|
+
RA Miyaki M., Nishio J., Konishi M., Kikuchi-Yanoshita R., Tanaka K.,
|
641
|
+
RA Muraoka M., Nagato M., Chong J.-M., Koike M., Terada T., Kawahara Y.,
|
642
|
+
RA Fukutome A., Tomiyama J., Chuganji Y., Momoi M., Utsunomiya J.;
|
643
|
+
RT "Drastic genetic instability of tumors and normal tissues in Turcot
|
644
|
+
RT syndrome.";
|
645
|
+
RL Oncogene 15:2877-2881(1997).
|
646
|
+
RN [84]
|
647
|
+
RP VARIANTS SER-152; ILE-169; PHE-176; THR-195; CYS-220; ILE-230; CYS-273
|
648
|
+
RP AND SER-278.
|
649
|
+
RX MEDLINE=98111377; PubMed=9450901;
|
650
|
+
RX DOI=10.1002/(SICI)1098-1004(1998)11:1<39::AID-HUMU6>3.0.CO;2-G;
|
651
|
+
RA van Rensburg E.J., Engelbrecht S., van Heerden W.F.P., Kotze M.J.,
|
652
|
+
RA Raubenheimer E.J.;
|
653
|
+
RT "Detection of p53 gene mutations in oral squamous cell carcinomas of a
|
654
|
+
RT black African population sample.";
|
655
|
+
RL Hum. Mutat. 11:39-44(1998).
|
656
|
+
RN [85]
|
657
|
+
RP VARIANT NONCLASSICAL LFS CYS-337.
|
658
|
+
RX MEDLINE=98112421; PubMed=9452042;
|
659
|
+
RA Luca J.W., Strong L.C., Hansen M.F.;
|
660
|
+
RT "A germline missense mutation R337C in exon 10 of the human p53
|
661
|
+
RT gene.";
|
662
|
+
RL Hum. Mutat. Suppl. 1:S58-S61(1998).
|
663
|
+
RN [86]
|
664
|
+
RP VARIANT LFS ILE-292.
|
665
|
+
RX MEDLINE=99414637; PubMed=10484981; DOI=10.1016/S0165-4608(98)00276-3;
|
666
|
+
RA Gueran S., Tunca Y., Imirzalioglu N.;
|
667
|
+
RT "Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in
|
668
|
+
RT a Li-Fraumeni syndrome family.";
|
669
|
+
RL Cancer Genet. Cytogenet. 113:145-151(1999).
|
670
|
+
RN [87]
|
671
|
+
RP INVOLVEMENT IN CHOROID PLEXUS PAPILLOMA.
|
672
|
+
RX MEDLINE=22079076; PubMed=12085209; DOI=10.1038/sj/bjc/6600269;
|
673
|
+
RA Rutherford J., Chu C.E., Duddy P.M., Charlton R.S., Chumas P.,
|
674
|
+
RA Taylor G.R., Lu X., Barnes D.M., Camplejohn R.S.;
|
675
|
+
RT "Investigations on a clinically and functionally unusual and novel
|
676
|
+
RT germline p53 mutation.";
|
677
|
+
RL Br. J. Cancer 86:1592-1596(2002).
|
678
|
+
CC -!- FUNCTION: Acts as a tumor suppressor in many tumor types; induces
|
679
|
+
CC growth arrest or apoptosis depending on the physiological
|
680
|
+
CC circumstances and cell type. Involved in cell cycle regulation as
|
681
|
+
CC a trans-activator that acts to negatively regulate cell division
|
682
|
+
CC by controlling a set of genes required for this process. One of
|
683
|
+
CC the activated genes is an inhibitor of cyclin-dependent kinases.
|
684
|
+
CC Apoptosis induction seems to be mediated either by stimulation of
|
685
|
+
CC BAX and FAS antigen expression, or by repression of Bcl-2
|
686
|
+
CC expression.
|
687
|
+
CC -!- COFACTOR: Binds 1 zinc ion per subunit.
|
688
|
+
CC -!- SUBUNIT: Interacts with AXIN1. Probably part of a complex
|
689
|
+
CC consisiting of TP53, HIPK2 and AXIN1 (By similarity). Binds DNA as
|
690
|
+
CC a homotetramer. Interacts with histone acetyltransferases EP300
|
691
|
+
CC and methyltransferases HRMT1L2 and CARM1, and recruits them to
|
692
|
+
CC promoters. In vitro, the interaction of TP53 with cancer-
|
693
|
+
CC associated/HPV (E6) viral proteins leads to ubiquitination and
|
694
|
+
CC degradation of TP53 giving a possible model for cell growth
|
695
|
+
CC regulation. This complex formation requires an additional factor,
|
696
|
+
CC E6-AP, which stably associates with TP53 in the presence of E6. C-
|
697
|
+
CC terminus interacts with TAF1, when TAF1 is part of the TFIID
|
698
|
+
CC complex. Interacts with ING4 and this interaction may be indirect.
|
699
|
+
CC Found in a complex with CABLES1 and TP73. Interacts with HIPK1,
|
700
|
+
CC HIPK2, and P53DINP1.
|
701
|
+
CC -!- INTERACTION:
|
702
|
+
CC Q8TDN4:CABLES1; NbExp=1; IntAct=EBI-366083, EBI-604615;
|
703
|
+
CC Q9ESJ1:Cables1 (xeno); NbExp=1; IntAct=EBI-366083, EBI-604411;
|
704
|
+
CC Q92793:CREBBP; NbExp=3; IntAct=EBI-366083, EBI-81215;
|
705
|
+
CC P42858:HD; NbExp=2; IntAct=EBI-366083, EBI-466029;
|
706
|
+
CC P09429:HMGB1; NbExp=1; IntAct=EBI-366083, EBI-389432;
|
707
|
+
CC P56273:MDM2 (xeno); NbExp=1; IntAct=EBI-366083, EBI-541233;
|
708
|
+
CC Q00987:MDM2; NbExp=1; IntAct=EBI-366083, EBI-389668;
|
709
|
+
CC P06748:NPM1; NbExp=3; IntAct=EBI-366083, EBI-78579;
|
710
|
+
CC P06748-1:NPM1; NbExp=1; IntAct=EBI-366083, EBI-354150;
|
711
|
+
CC Q06609:RAD51; NbExp=1; IntAct=EBI-366083, EBI-297202;
|
712
|
+
CC Q96ST3:SIN3A; NbExp=2; IntAct=EBI-366083, EBI-347218;
|
713
|
+
CC P20226:TBP; NbExp=1; IntAct=EBI-366083, EBI-355371;
|
714
|
+
CC Q7Z6Z7:UREB1; NbExp=2; IntAct=EBI-366083, EBI-625934;
|
715
|
+
CC -!- SUBCELLULAR LOCATION: Cytoplasmic and nuclear.
|
716
|
+
CC -!- ALTERNATIVE PRODUCTS:
|
717
|
+
CC Event=Alternative splicing; Named isoforms=2;
|
718
|
+
CC Name=1;
|
719
|
+
CC IsoId=P04637-1; Sequence=Displayed;
|
720
|
+
CC Name=2; Synonyms=I9RET;
|
721
|
+
CC IsoId=P04637-2; Sequence=VSP_006535, VSP_006536;
|
722
|
+
CC Note=Seems to be non-functional. Expressed in quiescent
|
723
|
+
CC lymphocytes;
|
724
|
+
CC -!- DOMAIN: The nuclear export signal acts as a transcriptional
|
725
|
+
CC repression domain.
|
726
|
+
CC -!- PTM: Acetylated. Acetylation of Lys-382 by CREBBP enhances
|
727
|
+
CC transcriptional activity. Deacetylation of Lys-382 by SIRT1
|
728
|
+
CC impairs its ability to induce proapoptotic program and modulate
|
729
|
+
CC cell senescence.
|
730
|
+
CC -!- PTM: Phosphorylated. Phosphorylation on Ser residues mediates
|
731
|
+
CC transcriptional activation. Phosphorylated by HIPK1 (By
|
732
|
+
CC similarity). Phosphorylated on Thr-18 by VRK1, which may prevent
|
733
|
+
CC the interaction with MDM2. Phosphorylated on Thr-55 by TAF1, which
|
734
|
+
CC promotes MDM2-mediated degradation. Phosphorylated on Ser-46 by
|
735
|
+
CC HIPK2 upon UV irradiation. Phosphorylation on Ser-46 is required
|
736
|
+
CC for acetylation by CREBBP.
|
737
|
+
CC -!- PTM: Dephosphorylated by PP2A. SV40 small T antigen inhibits the
|
738
|
+
CC dephosphorylation by the AC form of PP2A.
|
739
|
+
CC -!- PTM: May be O-glycosylated in the C-terminal basic region. Studied
|
740
|
+
CC in EB-1 cell line.
|
741
|
+
CC -!- DISEASE: TP53 is found in increased amounts in a wide variety of
|
742
|
+
CC transformed cells. TP53 is frequently mutated or inactivated in
|
743
|
+
CC about 60% of cancers.
|
744
|
+
CC -!- DISEASE: Defects in TP53 are involved in esophageal squamous cell
|
745
|
+
CC carcinoma (ESCC) [MIM:133239]. ESCC is a tumor of the esophagus.
|
746
|
+
CC -!- DISEASE: Defects in TP53 are a cause of Li-Fraumeni syndrome (LFS)
|
747
|
+
CC [MIM:151623]. LFS is an autosomal dominant familial cancer
|
748
|
+
CC syndrome that in its classic form is defined by the existence of
|
749
|
+
CC both a proband with a sarcoma and two other first-degree relatives
|
750
|
+
CC with a cancer by age 45 years. In these families the affected
|
751
|
+
CC relatives develop a diverse set of malignancies at unusually early
|
752
|
+
CC ages. The spectrum of cancers in LFS includes breast carcinomas,
|
753
|
+
CC soft-tissue sarcomas, brain tumors, osteosarcoma, leukemia and
|
754
|
+
CC adreno-cortical carcinoma. Other possible component tumors of LFS
|
755
|
+
CC are melanoma, gonadal cell tumors and carcinomas of the lung,
|
756
|
+
CC pancreas and prostate.
|
757
|
+
CC -!- DISEASE: Defects in TP53 are found in Barrett metaplasia; also
|
758
|
+
CC known as Barrett esophagus. It is a condition in which the
|
759
|
+
CC normally stratified squamous epithelium of the lower esophagus is
|
760
|
+
CC replaced by a metaplastic columnar epithelium. The condition
|
761
|
+
CC develops as a complication in approximately 10% of patients with
|
762
|
+
CC chronic gastroesophageal reflux disease and predisposes to the
|
763
|
+
CC development of esophageal adenocarcinoma.
|
764
|
+
CC -!- DISEASE: Defects in TP53 are involved in head and neck squamous
|
765
|
+
CC cell carcinomas (HNSCC) [MIM:275355].
|
766
|
+
CC -!- DISEASE: Defects in TP53 are involved in oral squamous cell
|
767
|
+
CC carcinoma (OSCC). Cigarette smoke is a prime mutagenic agent in
|
768
|
+
CC cancer of the aerodigestive tract.
|
769
|
+
CC -!- DISEASE: Defects in TP53 are a cause of lung cancer [MIM:211980].
|
770
|
+
CC -!- DISEASE: Defects in TP53 are a cause of choroid plexus papilloma
|
771
|
+
CC [MIM:260500]. Choroid plexus papilloma is a slow-growing benign
|
772
|
+
CC tumor of the choroid plexus that often invades the leptomeninges.
|
773
|
+
CC In children it is usually in a lateral ventricle but in adults it
|
774
|
+
CC is more often in the fourth ventricle. Hydrocephalus is common,
|
775
|
+
CC either from obstruction or from tumor secretion of cerebrospinal
|
776
|
+
CC fluid. If it undergoes malignant transformation it is called a
|
777
|
+
CC choroid plexus carcinoma. Primary choroid plexus tumors are rare
|
778
|
+
CC and usually occur in early childhood.
|
779
|
+
CC -!- SIMILARITY: Belongs to the p53 family.
|
780
|
+
CC -!- DATABASE: NAME=IARC TP53 mutation database;
|
781
|
+
CC NOTE=IARC db of somatic p53 mutations;
|
782
|
+
CC WWW="http://www.iarc.fr/p53/".
|
783
|
+
CC -!- DATABASE: NAME=Tokyo p53;
|
784
|
+
CC NOTE=University of Tokyo db of p53 mutations;
|
785
|
+
CC WWW="http://p53.genome.ad.jp/".
|
786
|
+
CC -!- DATABASE: NAME=p53 web site at the Institut Curie;
|
787
|
+
CC WWW="http://p53.curie.fr/".
|
788
|
+
CC -!- DATABASE: NAME=Atlas Genet. Cytogenet. Oncol. Haematol.;
|
789
|
+
CC WWW="http://www.infobiogen.fr/services/chromcancer/Genes/P53ID88.html".
|
790
|
+
CC --------------------------------------------------------------------------
|
791
|
+
CC This Swiss-Prot entry is copyright. It is produced through a collaboration
|
792
|
+
CC between the Swiss Institute of Bioinformatics and the EMBL outstation -
|
793
|
+
CC the European Bioinformatics Institute. There are no restrictions on its
|
794
|
+
CC use as long as its content is in no way modified and this statement is not
|
795
|
+
CC removed.
|
796
|
+
CC --------------------------------------------------------------------------
|
797
|
+
DR EMBL; X02469; CAA26306.1; -; mRNA.
|
798
|
+
DR EMBL; M13121; AAA59987.1; -; Genomic_DNA.
|
799
|
+
DR EMBL; M13112; AAA59987.1; JOINED; Genomic_DNA.
|
800
|
+
DR EMBL; M13113; AAA59987.1; JOINED; Genomic_DNA.
|
801
|
+
DR EMBL; M13114; AAA59987.1; JOINED; Genomic_DNA.
|
802
|
+
DR EMBL; M13115; AAA59987.1; JOINED; Genomic_DNA.
|
803
|
+
DR EMBL; M13116; AAA59987.1; JOINED; Genomic_DNA.
|
804
|
+
DR EMBL; M13117; AAA59987.1; JOINED; Genomic_DNA.
|
805
|
+
DR EMBL; M13118; AAA59987.1; JOINED; Genomic_DNA.
|
806
|
+
DR EMBL; M13119; AAA59987.1; JOINED; Genomic_DNA.
|
807
|
+
DR EMBL; M13120; AAA59987.1; JOINED; Genomic_DNA.
|
808
|
+
DR EMBL; K03199; AAA59989.1; -; mRNA.
|
809
|
+
DR EMBL; M14694; AAA61211.1; -; mRNA.
|
810
|
+
DR EMBL; M14695; AAA61212.1; -; mRNA.
|
811
|
+
DR EMBL; M22898; AAA59988.1; -; Genomic_DNA.
|
812
|
+
DR EMBL; M22882; AAA59988.1; JOINED; Genomic_DNA.
|
813
|
+
DR EMBL; M22883; AAA59988.1; JOINED; Genomic_DNA.
|
814
|
+
DR EMBL; M22884; AAA59988.1; JOINED; Genomic_DNA.
|
815
|
+
DR EMBL; M22887; AAA59988.1; JOINED; Genomic_DNA.
|
816
|
+
DR EMBL; M22888; AAA59988.1; JOINED; Genomic_DNA.
|
817
|
+
DR EMBL; M22894; AAA59988.1; JOINED; Genomic_DNA.
|
818
|
+
DR EMBL; M22895; AAA59988.1; JOINED; Genomic_DNA.
|
819
|
+
DR EMBL; M22896; AAA59988.1; JOINED; Genomic_DNA.
|
820
|
+
DR EMBL; M22897; AAA59988.1; JOINED; Genomic_DNA.
|
821
|
+
DR EMBL; X01405; CAA25652.1; -; mRNA.
|
822
|
+
DR EMBL; X60011; CAA42626.1; -; mRNA.
|
823
|
+
DR EMBL; X60012; CAA42627.1; ALT_TERM; mRNA.
|
824
|
+
DR EMBL; X60013; CAA42628.1; -; mRNA.
|
825
|
+
DR EMBL; X60014; CAA42629.1; -; mRNA.
|
826
|
+
DR EMBL; X60015; CAA42630.1; -; mRNA.
|
827
|
+
DR EMBL; X60016; CAA42631.1; -; mRNA.
|
828
|
+
DR EMBL; X60017; CAA42632.1; -; mRNA.
|
829
|
+
DR EMBL; X60018; CAA42633.1; -; mRNA.
|
830
|
+
DR EMBL; X60019; CAA42634.1; -; mRNA.
|
831
|
+
DR EMBL; X60020; CAA42635.1; -; mRNA.
|
832
|
+
DR EMBL; AF135121; AAD28535.1; -; Genomic_DNA.
|
833
|
+
DR EMBL; AF135120; AAD28535.1; JOINED; Genomic_DNA.
|
834
|
+
DR EMBL; AF307851; AAG28785.1; -; mRNA.
|
835
|
+
DR EMBL; X54156; CAA38095.1; -; Genomic_DNA.
|
836
|
+
DR EMBL; U94788; AAC12971.1; -; Genomic_DNA.
|
837
|
+
DR EMBL; AF136271; AAD28628.1; -; Genomic_DNA.
|
838
|
+
DR EMBL; AF136270; AAD28628.1; JOINED; Genomic_DNA.
|
839
|
+
DR EMBL; AB082923; BAC16799.1; -; mRNA.
|
840
|
+
DR EMBL; AY838896; AAV80424.1; -; Genomic_DNA.
|
841
|
+
DR EMBL; BC003596; AAH03596.1; -; mRNA.
|
842
|
+
DR EMBL; AY429684; AAR10356.1; -; mRNA.
|
843
|
+
DR EMBL; AY390341; AAQ90158.1; -; Genomic_DNA.
|
844
|
+
DR EMBL; AY359814; AAR13239.1; -; Genomic_DNA.
|
845
|
+
DR EMBL; U63714; AAB39322.1; -; Genomic_DNA.
|
846
|
+
DR EMBL; AF209136; AAF36362.1; -; Genomic_DNA.
|
847
|
+
DR EMBL; AF209128; AAF36354.1; -; Genomic_DNA.
|
848
|
+
DR EMBL; AF209129; AAF36355.1; -; Genomic_DNA.
|
849
|
+
DR EMBL; AF209130; AAF36356.1; -; Genomic_DNA.
|
850
|
+
DR EMBL; AF209131; AAF36357.1; -; Genomic_DNA.
|
851
|
+
DR EMBL; AF209132; AAF36358.1; -; Genomic_DNA.
|
852
|
+
DR EMBL; AF209133; AAF36359.1; -; Genomic_DNA.
|
853
|
+
DR EMBL; AF209134; AAF36360.1; -; Genomic_DNA.
|
854
|
+
DR EMBL; AF209135; AAF36361.1; -; Genomic_DNA.
|
855
|
+
DR EMBL; AF209148; AAF36374.1; -; Genomic_DNA.
|
856
|
+
DR EMBL; AF209149; AAF36375.1; -; Genomic_DNA.
|
857
|
+
DR EMBL; AF209150; AAF36376.1; -; Genomic_DNA.
|
858
|
+
DR EMBL; AF209151; AAF36377.1; -; Genomic_DNA.
|
859
|
+
DR EMBL; AF209152; AAF36378.1; -; Genomic_DNA.
|
860
|
+
DR EMBL; AF209153; AAF36379.1; -; Genomic_DNA.
|
861
|
+
DR EMBL; AF209154; AAF36380.1; -; Genomic_DNA.
|
862
|
+
DR EMBL; AF209155; AAF36381.1; -; Genomic_DNA.
|
863
|
+
DR EMBL; AF209156; AAF36382.1; -; Genomic_DNA.
|
864
|
+
DR EMBL; AF210309; AAF63442.1; -; Genomic_DNA.
|
865
|
+
DR EMBL; AF210308; AAF63442.1; JOINED; Genomic_DNA.
|
866
|
+
DR EMBL; AF210310; AAF63443.1; -; Genomic_DNA.
|
867
|
+
DR EMBL; AF240684; AAK76358.1; -; Genomic_DNA.
|
868
|
+
DR EMBL; AF240685; AAK76359.1; -; Genomic_DNA.
|
869
|
+
DR EMBL; AY270155; AAP30003.1; -; Genomic_DNA.
|
870
|
+
DR PIR; A25224; DNHU53.
|
871
|
+
DR PDB; 1A1U; NMR; A/C=324-358.
|
872
|
+
DR PDB; 1AIE; X-ray; @=326-356.
|
873
|
+
DR PDB; 1C26; X-ray; A=325-356.
|
874
|
+
DR PDB; 1DT7; NMR; X/Y=367-388.
|
875
|
+
DR PDB; 1GZH; X-ray; A/C=-.
|
876
|
+
DR PDB; 1H26; X-ray; E=376-386.
|
877
|
+
DR PDB; 1HS5; NMR; A/B=324-357.
|
878
|
+
DR PDB; 1KZY; X-ray; A/B=95-289.
|
879
|
+
DR PDB; 1OLG; NMR; A/B/C/D=319-360.
|
880
|
+
DR PDB; 1OLH; NMR; A/B/C/D=319-360.
|
881
|
+
DR PDB; 1PES; NMR; A/B/C/D=325-355.
|
882
|
+
DR PDB; 1PET; NMR; A/B/C/D=325-355.
|
883
|
+
DR PDB; 1SAE; NMR; A/B/C/D=319-360.
|
884
|
+
DR PDB; 1SAF; NMR; A/B/C/D=319-360.
|
885
|
+
DR PDB; 1SAG; NMR; A/B/C/D=319-360.
|
886
|
+
DR PDB; 1SAH; NMR; A/B/C/D=319-360.
|
887
|
+
DR PDB; 1SAI; NMR; A/B/C/D=319-360.
|
888
|
+
DR PDB; 1SAJ; NMR; A/B/C/D=319-360.
|
889
|
+
DR PDB; 1SAK; NMR; A/B/C/D=319-360.
|
890
|
+
DR PDB; 1SAL; NMR; A/B/C/D=319-360.
|
891
|
+
DR PDB; 1TSR; X-ray; A/B/C=94-312.
|
892
|
+
DR PDB; 1TUP; X-ray; A/B/C=94-312.
|
893
|
+
DR PDB; 1UOL; X-ray; A/B=94-312.
|
894
|
+
DR PDB; 1YCQ; X-ray; B=13-29.
|
895
|
+
DR PDB; 1YCR; X-ray; B=15-29.
|
896
|
+
DR PDB; 1YCS; X-ray; A=94-292.
|
897
|
+
DR PDB; 2BIM; X-ray; A/B=94-312.
|
898
|
+
DR PDB; 2BIN; X-ray; A=94-312.
|
899
|
+
DR PDB; 2BIO; X-ray; A=94-312.
|
900
|
+
DR PDB; 2BIP; X-ray; A=94-312.
|
901
|
+
DR PDB; 2BIQ; X-ray; A=94-312.
|
902
|
+
DR PDB; 3SAK; NMR; A/B/C/D=319-360.
|
903
|
+
DR IntAct; P04637; -.
|
904
|
+
DR TRANSFAC; T00671; -.
|
905
|
+
DR SWISS-2DPAGE; P04637; HUMAN.
|
906
|
+
DR Ensembl; ENSG00000141510; Homo sapiens.
|
907
|
+
DR HGNC; HGNC:11998; TP53.
|
908
|
+
DR H-InvDB; HIX0013510; -.
|
909
|
+
DR Reactome; P04637; -.
|
910
|
+
DR MIM; 191170; -.
|
911
|
+
DR MIM; 133239; -.
|
912
|
+
DR MIM; 151623; -.
|
913
|
+
DR MIM; 275355; -.
|
914
|
+
DR MIM; 211980; -.
|
915
|
+
DR MIM; 260500; -.
|
916
|
+
DR GO; GO:0005739; C:mitochondrion; IDA.
|
917
|
+
DR GO; GO:0005730; C:nucleolus; IDA.
|
918
|
+
DR GO; GO:0005524; F:ATP binding; IDA.
|
919
|
+
DR GO; GO:0005507; F:copper ion binding; IDA.
|
920
|
+
DR GO; GO:0000739; F:DNA strand annealing activity; IDA.
|
921
|
+
DR GO; GO:0004518; F:nuclease activity; TAS.
|
922
|
+
DR GO; GO:0005515; F:protein binding; IPI.
|
923
|
+
DR GO; GO:0046982; F:protein heterodimerization activity; IPI.
|
924
|
+
DR GO; GO:0003700; F:transcription factor activity; IDA.
|
925
|
+
DR GO; GO:0008270; F:zinc ion binding; TAS.
|
926
|
+
DR GO; GO:0006915; P:apoptosis; IDA.
|
927
|
+
DR GO; GO:0006284; P:base-excision repair; TAS.
|
928
|
+
DR GO; GO:0008635; P:caspase activation via cytochrome c; IDA.
|
929
|
+
DR GO; GO:0007569; P:cell aging; IMP.
|
930
|
+
DR GO; GO:0007050; P:cell cycle arrest; TAS.
|
931
|
+
DR GO; GO:0000075; P:cell cycle checkpoint; TAS.
|
932
|
+
DR GO; GO:0030154; P:cell differentiation; TAS.
|
933
|
+
DR GO; GO:0008283; P:cell proliferation; TAS.
|
934
|
+
DR GO; GO:0008630; P:DNA damage response, signal transduction re...; TAS.
|
935
|
+
DR GO; GO:0006310; P:DNA recombination; TAS.
|
936
|
+
DR GO; GO:0008628; P:induction of apoptosis by hormones; TAS.
|
937
|
+
DR GO; GO:0030308; P:negative regulation of cell growth; IMP.
|
938
|
+
DR GO; GO:0051097; P:negative regulation of helicase activity; TAS.
|
939
|
+
DR GO; GO:0006289; P:nucleotide-excision repair; IMP.
|
940
|
+
DR GO; GO:0051262; P:protein tetramerization; TAS.
|
941
|
+
DR GO; GO:0046902; P:regulation of mitochondrial membrane permea...; TAS.
|
942
|
+
DR GO; GO:0006355; P:regulation of transcription, DNA-dependent; IDA.
|
943
|
+
DR InterPro; IPR002117; P53.
|
944
|
+
DR InterPro; IPR011615; P53_DNA_bd.
|
945
|
+
DR InterPro; IPR012346; P53_RUNT_DNA_bd.
|
946
|
+
DR InterPro; IPR010991; p53_tetrameristn.
|
947
|
+
DR Pfam; PF00870; P53; 1.
|
948
|
+
DR Pfam; PF07710; P53_tetramer; 1.
|
949
|
+
DR PRINTS; PR00386; P53SUPPRESSR.
|
950
|
+
DR ProDom; PD002681; P53; 1.
|
951
|
+
DR PROSITE; PS00348; P53; 1.
|
952
|
+
KW 3D-structure; Acetylation; Activator; Alternative splicing;
|
953
|
+
KW Anti-oncogene; Apoptosis; Cell cycle; Disease mutation; DNA-binding;
|
954
|
+
KW Glycoprotein; Li-Fraumeni syndrome; Metal-binding; Nuclear protein;
|
955
|
+
KW Phosphorylation; Polymorphism; Transcription;
|
956
|
+
KW Transcription regulation; Zinc.
|
957
|
+
FT DNA_BIND 102 292
|
958
|
+
FT REGION 1 83 Interaction with HRMT1L2.
|
959
|
+
FT REGION 1 44 Transcription activation (acidic).
|
960
|
+
FT REGION 100 370 Interaction with HIPK1 (By similarity).
|
961
|
+
FT REGION 116 292 Interaction with AXIN1 (By similarity).
|
962
|
+
FT REGION 241 248 Interacts with the 53BP2 SH3 domain.
|
963
|
+
FT REGION 300 393 Interaction with CARM1.
|
964
|
+
FT REGION 319 360 Interaction with HIPK2.
|
965
|
+
FT REGION 325 356 Oligomerization.
|
966
|
+
FT REGION 368 387 Basic (repression of DNA-binding).
|
967
|
+
FT MOTIF 305 321 Bipartite nuclear localization signal.
|
968
|
+
FT MOTIF 339 350 Nuclear export signal.
|
969
|
+
FT METAL 176 176 Zinc.
|
970
|
+
FT METAL 179 179 Zinc.
|
971
|
+
FT METAL 238 238 Zinc.
|
972
|
+
FT METAL 242 242 Zinc.
|
973
|
+
FT BINDING 392 392 5'-phospho-RNA (covalent).
|
974
|
+
FT MOD_RES 15 15 Phosphoserine (by PRPK).
|
975
|
+
FT MOD_RES 18 18 Phosphothreonine (by VRK1).
|
976
|
+
FT MOD_RES 46 46 Phosphoserine (by HIPK2).
|
977
|
+
FT MOD_RES 55 55 Phosphothreonine (by TAF1).
|
978
|
+
FT MOD_RES 305 305 N6-acetyllysine.
|
979
|
+
FT MOD_RES 315 315 Phosphoserine (by CDC2).
|
980
|
+
FT MOD_RES 373 373 N6-acetyllysine.
|
981
|
+
FT MOD_RES 382 382 N6-acetyllysine.
|
982
|
+
FT VARSPLIC 332 341 IRGRERFEMF -> DGTSFQKENC (in isoform 2).
|
983
|
+
FT /FTId=VSP_006535.
|
984
|
+
FT VARSPLIC 342 393 Missing (in isoform 2).
|
985
|
+
FT /FTId=VSP_006536.
|
986
|
+
FT VARIANT 7 7 D -> H (in a skin tumor).
|
987
|
+
FT /FTId=VAR_005851.
|
988
|
+
FT VARIANT 35 35 L -> F (in a liver tumor).
|
989
|
+
FT /FTId=VAR_005852.
|
990
|
+
FT VARIANT 43 43 L -> S (in a renal tumor).
|
991
|
+
FT /FTId=VAR_005853.
|
992
|
+
FT VARIANT 47 47 P -> S (in dbSNP:1800371).
|
993
|
+
FT /FTId=VAR_014632.
|
994
|
+
FT VARIANT 53 53 W -> C (in a leukemia and a lymphoma).
|
995
|
+
FT /FTId=VAR_005854.
|
996
|
+
FT VARIANT 60 60 P -> S (in a leukemia and a lymphoma).
|
997
|
+
FT /FTId=VAR_005855.
|
998
|
+
FT VARIANT 72 72 P -> R (in dbSNP:1042522).
|
999
|
+
FT /FTId=VAR_005856.
|
1000
|
+
FT VARIANT 79 79 A -> T (in clone P53-H-1).
|
1001
|
+
FT /FTId=VAR_005857.
|
1002
|
+
FT VARIANT 87 87 P -> Q (in a brain tumor).
|
1003
|
+
FT /FTId=VAR_005858.
|
1004
|
+
FT VARIANT 94 94 S -> T (in a colon tumor).
|
1005
|
+
FT /FTId=VAR_005859.
|
1006
|
+
FT VARIANT 110 110 R -> C (in a liver and an uterus tumor).
|
1007
|
+
FT /FTId=VAR_005860.
|
1008
|
+
FT VARIANT 110 110 R -> L (in a liver tumor).
|
1009
|
+
FT /FTId=VAR_005861.
|
1010
|
+
FT VARIANT 110 110 R -> P (in a breast tumor).
|
1011
|
+
FT /FTId=VAR_005862.
|
1012
|
+
FT VARIANT 113 113 F -> C (in a lung tumor).
|
1013
|
+
FT /FTId=VAR_005863.
|
1014
|
+
FT VARIANT 125 125 T -> M (in a lung tumor).
|
1015
|
+
FT /FTId=VAR_005864.
|
1016
|
+
FT VARIANT 126 126 Y -> D (in a colorectal tumor).
|
1017
|
+
FT /FTId=VAR_005865.
|
1018
|
+
FT VARIANT 126 126 Y -> N (in a leukemia and a lymphoma).
|
1019
|
+
FT /FTId=VAR_005866.
|
1020
|
+
FT VARIANT 127 127 S -> F (in a lung tumor).
|
1021
|
+
FT /FTId=VAR_005867.
|
1022
|
+
FT VARIANT 128 128 P -> S (in a breast tumor).
|
1023
|
+
FT /FTId=VAR_005868.
|
1024
|
+
FT VARIANT 129 129 A -> D (in a sarcoma).
|
1025
|
+
FT /FTId=VAR_005869.
|
1026
|
+
FT VARIANT 130 130 L -> R (in a liver tumor).
|
1027
|
+
FT /FTId=VAR_005870.
|
1028
|
+
FT VARIANT 131 131 N -> K (in a colon tumor).
|
1029
|
+
FT /FTId=VAR_005872.
|
1030
|
+
FT VARIANT 131 131 N -> S (in a liver tumor).
|
1031
|
+
FT /FTId=VAR_005871.
|
1032
|
+
FT VARIANT 132 132 K -> M (in a sarcoma).
|
1033
|
+
FT /FTId=VAR_005873.
|
1034
|
+
FT VARIANT 132 132 K -> Q (in a breast tumor).
|
1035
|
+
FT /FTId=VAR_005874.
|
1036
|
+
FT VARIANT 133 133 M -> T (in LFS).
|
1037
|
+
FT /FTId=VAR_005875.
|
1038
|
+
FT VARIANT 135 135 C -> F (in a colon tumor).
|
1039
|
+
FT /FTId=VAR_005877.
|
1040
|
+
FT VARIANT 135 135 C -> S (in a colon tumor).
|
1041
|
+
FT /FTId=VAR_005876.
|
1042
|
+
FT VARIANT 136 136 Q -> E (in a breast tumor).
|
1043
|
+
FT /FTId=VAR_005878.
|
1044
|
+
FT VARIANT 136 136 Q -> K (in a colon tumor).
|
1045
|
+
FT /FTId=VAR_005879.
|
1046
|
+
FT VARIANT 137 137 L -> Q (in a liver tumor).
|
1047
|
+
FT /FTId=VAR_005880.
|
1048
|
+
FT VARIANT 138 138 A -> P (in a lung tumor).
|
1049
|
+
FT /FTId=VAR_005881.
|
1050
|
+
FT VARIANT 139 139 K -> N (in a breast, an ovary tumor, a
|
1051
|
+
FT leukemia and a lymphoma).
|
1052
|
+
FT /FTId=VAR_005882.
|
1053
|
+
FT VARIANT 140 140 T -> Y (in a leukemia and a lymphoma).
|
1054
|
+
FT /FTId=VAR_005883.
|
1055
|
+
FT VARIANT 141 141 C -> F (in a breast tumor).
|
1056
|
+
FT /FTId=VAR_005885.
|
1057
|
+
FT VARIANT 141 141 C -> G (in an ovary tumor).
|
1058
|
+
FT /FTId=VAR_005884.
|
1059
|
+
FT VARIANT 141 141 C -> Y (in many types of tumors).
|
1060
|
+
FT /FTId=VAR_005886.
|
1061
|
+
FT VARIANT 143 143 V -> A (in a colon tumor; strong DNA
|
1062
|
+
FT binding ability at 32.5 degrees Celsius;
|
1063
|
+
FT strong reduction of transcriptional
|
1064
|
+
FT activity at 37.5 degrees Celsius).
|
1065
|
+
FT /FTId=VAR_005887.
|
1066
|
+
FT VARIANT 144 144 Q -> P (in a leukemia and a lymphoma).
|
1067
|
+
FT /FTId=VAR_005888.
|
1068
|
+
FT VARIANT 145 145 L -> P (in a brain tumor).
|
1069
|
+
FT /FTId=VAR_005889.
|
1070
|
+
FT VARIANT 145 145 L -> Q (in an esophagus tumor).
|
1071
|
+
FT /FTId=VAR_005890.
|
1072
|
+
FT VARIANT 147 147 V -> D (in an ovary tumor).
|
1073
|
+
FT /FTId=VAR_005891.
|
1074
|
+
FT VARIANT 147 147 V -> G (in a prostate tumor).
|
1075
|
+
FT /FTId=VAR_005892.
|
1076
|
+
FT VARIANT 149 149 S -> P (in a breast tumor).
|
1077
|
+
FT /FTId=VAR_005893.
|
1078
|
+
FT VARIANT 151 151 P -> A (in a brain and a colon tumor).
|
1079
|
+
FT /FTId=VAR_005894.
|
1080
|
+
FT VARIANT 151 151 P -> S (in many types of tumors).
|
1081
|
+
FT /FTId=VAR_005895.
|
1082
|
+
FT VARIANT 151 151 P -> T (in a breast tumor).
|
1083
|
+
FT /FTId=VAR_005896.
|
1084
|
+
FT VARIANT 152 152 P -> L (in an esophagus tumor).
|
1085
|
+
FT /FTId=VAR_005897.
|
1086
|
+
FT VARIANT 152 152 P -> S (in oral squamous cell carcinoma).
|
1087
|
+
FT /FTId=VAR_005898.
|
1088
|
+
FT VARIANT 153 153 P -> T (in a colon tumor).
|
1089
|
+
FT /FTId=VAR_005899.
|
1090
|
+
FT VARIANT 154 154 G -> V (in esophagus tumor).
|
1091
|
+
FT /FTId=VAR_005900.
|
1092
|
+
FT VARIANT 155 155 T -> A (in an esophagus tumor).
|
1093
|
+
FT /FTId=VAR_005901.
|
1094
|
+
FT VARIANT 156 156 R -> P (in an osteosarcoma cell line).
|
1095
|
+
FT /FTId=VAR_005902.
|
1096
|
+
FT VARIANT 157 157 V -> D (in a liver tumor).
|
1097
|
+
FT /FTId=VAR_005903.
|
1098
|
+
FT VARIANT 157 157 V -> I (in colorectal carcinoma; from a
|
1099
|
+
FT patient with Turcot syndrome).
|
1100
|
+
FT /FTId=VAR_012977.
|
1101
|
+
FT VARIANT 157 157 V -> S (in a S. African hepatocellular
|
1102
|
+
FT carcinoma).
|
1103
|
+
FT /FTId=VAR_005904.
|
1104
|
+
FT VARIANT 158 158 R -> C (in a noninvasive head and neck
|
1105
|
+
FT tumor).
|
1106
|
+
FT /FTId=VAR_005905.
|
1107
|
+
FT VARIANT 158 158 R -> G (in a brain and a lung tumor).
|
1108
|
+
FT /FTId=VAR_005906.
|
1109
|
+
FT VARIANT 158 158 R -> H (in many types of tumors).
|
1110
|
+
FT /FTId=VAR_005907.
|
1111
|
+
FT VARIANT 160 160 M -> I (in a lung and a skin tumor).
|
1112
|
+
FT /FTId=VAR_005908.
|
1113
|
+
FT VARIANT 161 161 A -> S (in a brain tumor).
|
1114
|
+
FT /FTId=VAR_005909.
|
1115
|
+
FT VARIANT 162 162 I -> S (in a brain tumor).
|
1116
|
+
FT /FTId=VAR_005910.
|
1117
|
+
FT VARIANT 162 162 I -> V (in an ovary tumor).
|
1118
|
+
FT /FTId=VAR_005911.
|
1119
|
+
FT VARIANT 163 163 Y -> H (in HNSCC).
|
1120
|
+
FT /FTId=VAR_005912.
|
1121
|
+
FT VARIANT 164 164 K -> N (in a lung tumor).
|
1122
|
+
FT /FTId=VAR_005913.
|
1123
|
+
FT VARIANT 164 164 K -> Q (in a breast tumor).
|
1124
|
+
FT /FTId=VAR_005914.
|
1125
|
+
FT VARIANT 165 165 Q -> L (in a breast tumor).
|
1126
|
+
FT /FTId=VAR_005915.
|
1127
|
+
FT VARIANT 165 165 Q -> R (in an ovary tumor).
|
1128
|
+
FT /FTId=VAR_005916.
|
1129
|
+
FT VARIANT 166 166 S -> L (in a lung tumor).
|
1130
|
+
FT /FTId=VAR_005917.
|
1131
|
+
FT VARIANT 168 168 H -> R (in a brain tumor).
|
1132
|
+
FT /FTId=VAR_005918.
|
1133
|
+
FT VARIANT 169 169 M -> I (in oral squamous cell carcinoma).
|
1134
|
+
FT /FTId=VAR_005919.
|
1135
|
+
FT VARIANT 169 169 M -> T (in a noninvasive head and neck
|
1136
|
+
FT tumor).
|
1137
|
+
FT /FTId=VAR_005920.
|
1138
|
+
FT VARIANT 170 170 T -> M (in a colon tumor).
|
1139
|
+
FT /FTId=VAR_005921.
|
1140
|
+
FT VARIANT 170 170 T -> S (in a colon tumor).
|
1141
|
+
FT /FTId=VAR_005922.
|
1142
|
+
FT VARIANT 172 172 V -> A (in a prostate tumor).
|
1143
|
+
FT /FTId=VAR_005923.
|
1144
|
+
FT VARIANT 173 173 V -> E (in a colon tumor).
|
1145
|
+
FT /FTId=VAR_005924.
|
1146
|
+
FT VARIANT 173 173 V -> L (in a cervical carcinoma).
|
1147
|
+
FT /FTId=VAR_005925.
|
1148
|
+
FT VARIANT 173 173 V -> M (in a colon tumor).
|
1149
|
+
FT /FTId=VAR_005926.
|
1150
|
+
FT VARIANT 174 174 R -> H (in the cell line Detroit 562 of
|
1151
|
+
FT squamous cell carcinoma).
|
1152
|
+
FT /FTId=VAR_005927.
|
1153
|
+
FT VARIANT 175 175 R -> C (in a colon and an uterus tumor).
|
1154
|
+
FT /FTId=VAR_005928.
|
1155
|
+
FT VARIANT 175 175 R -> G (in a brain tumor).
|
1156
|
+
FT /FTId=VAR_005929.
|
1157
|
+
FT VARIANT 175 175 R -> H (in LFS and colon/esophagus/
|
1158
|
+
FT gastric tumors).
|
1159
|
+
FT /FTId=VAR_005932.
|
1160
|
+
FT VARIANT 175 175 R -> L (in a breast and a colon tumor).
|
1161
|
+
FT /FTId=VAR_005930.
|
1162
|
+
FT VARIANT 175 175 R -> P (in a cervical carcinoma).
|
1163
|
+
FT /FTId=VAR_005931.
|
1164
|
+
FT VARIANT 176 176 C -> F (in esophagus tumors and many
|
1165
|
+
FT types of tumors).
|
1166
|
+
FT /FTId=VAR_005933.
|
1167
|
+
FT VARIANT 176 176 C -> W (in a lung tumor).
|
1168
|
+
FT /FTId=VAR_005934.
|
1169
|
+
FT VARIANT 177 177 P -> L (in a skin tumor).
|
1170
|
+
FT /FTId=VAR_005935.
|
1171
|
+
FT VARIANT 178 178 H -> HPHP (in a Burkitt's lymphoma).
|
1172
|
+
FT /FTId=VAR_005936.
|
1173
|
+
FT VARIANT 181 181 R -> L (in a cervical carcinoma).
|
1174
|
+
FT /FTId=VAR_005937.
|
1175
|
+
FT VARIANT 182 182 C -> S (in a stomach tumor).
|
1176
|
+
FT /FTId=VAR_005938.
|
1177
|
+
FT VARIANT 184 184 D -> Y (in a leukemia and a lymphoma).
|
1178
|
+
FT /FTId=VAR_005939.
|
1179
|
+
FT VARIANT 186 186 D -> Y (in a breast tumor).
|
1180
|
+
FT /FTId=VAR_005940.
|
1181
|
+
FT VARIANT 187 187 G -> C (in a breast tumor).
|
1182
|
+
FT /FTId=VAR_005941.
|
1183
|
+
FT VARIANT 187 187 G -> S (in a leukemia and a lymphoma).
|
1184
|
+
FT /FTId=VAR_005942.
|
1185
|
+
FT VARIANT 189 189 A -> P (in an ovary tumor).
|
1186
|
+
FT /FTId=VAR_005943.
|
1187
|
+
FT VARIANT 190 190 P -> L (in a colorectal tumor).
|
1188
|
+
FT /FTId=VAR_005944.
|
1189
|
+
FT VARIANT 191 191 P -> T (in a colon tumor).
|
1190
|
+
FT /FTId=VAR_005945.
|
1191
|
+
FT VARIANT 192 192 Q -> R (in a colon tumor).
|
1192
|
+
FT /FTId=VAR_005946.
|
1193
|
+
FT VARIANT 193 193 H -> D (in an uterus tumor).
|
1194
|
+
FT /FTId=VAR_005947.
|
1195
|
+
FT VARIANT 193 193 H -> R (in LFS).
|
1196
|
+
FT /FTId=VAR_005948.
|
1197
|
+
FT VARIANT 194 194 L -> P (in a colon tumor).
|
1198
|
+
FT /FTId=VAR_005949.
|
1199
|
+
FT VARIANT 194 194 L -> R (in the cell line HU 281 of
|
1200
|
+
FT squamous cell carcinoma).
|
1201
|
+
FT /FTId=VAR_005950.
|
1202
|
+
FT VARIANT 195 195 I -> T (in oral squamous cell carcinoma).
|
1203
|
+
FT /FTId=VAR_005951.
|
1204
|
+
FT VARIANT 198 198 E -> K (in HNSCC).
|
1205
|
+
FT /FTId=VAR_005952.
|
1206
|
+
FT VARIANT 205 205 Y -> C (in oral squamous cell carcinoma).
|
1207
|
+
FT /FTId=VAR_005953.
|
1208
|
+
FT VARIANT 205 205 Y -> D (in HNSCC).
|
1209
|
+
FT /FTId=VAR_005954.
|
1210
|
+
FT VARIANT 213 213 R -> Q (in a Burkitt's lymphoma and a
|
1211
|
+
FT colorectal tumor).
|
1212
|
+
FT /FTId=VAR_005955.
|
1213
|
+
FT VARIANT 216 216 V -> M (in HNSCC).
|
1214
|
+
FT /FTId=VAR_005956.
|
1215
|
+
FT VARIANT 220 220 Y -> C (in oral squamous cell carcinoma).
|
1216
|
+
FT /FTId=VAR_005957.
|
1217
|
+
FT VARIANT 220 220 Y -> H (in a colon tumor).
|
1218
|
+
FT /FTId=VAR_005958.
|
1219
|
+
FT VARIANT 220 220 Y -> S (in HNSCC).
|
1220
|
+
FT /FTId=VAR_005959.
|
1221
|
+
FT VARIANT 228 228 D -> E (in HNSCC).
|
1222
|
+
FT /FTId=VAR_005960.
|
1223
|
+
FT VARIANT 230 230 T -> I (in oral squamous cell carcinoma).
|
1224
|
+
FT /FTId=VAR_005961.
|
1225
|
+
FT VARIANT 232 232 I -> T (in an anal tumor).
|
1226
|
+
FT /FTId=VAR_005962.
|
1227
|
+
FT VARIANT 234 234 Y -> C (in HNSCC).
|
1228
|
+
FT /FTId=VAR_005963.
|
1229
|
+
FT VARIANT 234 234 Y -> H (in a Burkitt's lymphoma).
|
1230
|
+
FT /FTId=VAR_005964.
|
1231
|
+
FT VARIANT 237 237 M -> I (in a colon tumor).
|
1232
|
+
FT /FTId=VAR_005965.
|
1233
|
+
FT VARIANT 238 238 C -> F (in an anal tumor).
|
1234
|
+
FT /FTId=VAR_005966.
|
1235
|
+
FT VARIANT 238 238 C -> Y (in a colorectal tumor).
|
1236
|
+
FT /FTId=VAR_005967.
|
1237
|
+
FT VARIANT 240 240 S -> I (in an anal tumor).
|
1238
|
+
FT /FTId=VAR_005968.
|
1239
|
+
FT VARIANT 241 241 S -> F (in a colon tumor).
|
1240
|
+
FT /FTId=VAR_005969.
|
1241
|
+
FT VARIANT 242 242 C -> F (in a skin tumor).
|
1242
|
+
FT /FTId=VAR_005970.
|
1243
|
+
FT VARIANT 245 245 G -> A (in a renal tumor).
|
1244
|
+
FT /FTId=VAR_005971.
|
1245
|
+
FT VARIANT 245 245 G -> C (in LFS, colon and larynx tumors).
|
1246
|
+
FT /FTId=VAR_005972.
|
1247
|
+
FT VARIANT 245 245 G -> D (in LFS and a colon tumor).
|
1248
|
+
FT /FTId=VAR_005973.
|
1249
|
+
FT VARIANT 245 245 G -> S (in esophageal adenocarcinoma and
|
1250
|
+
FT many types of tumors).
|
1251
|
+
FT /FTId=VAR_005974.
|
1252
|
+
FT VARIANT 245 245 G -> V (in HNSCC).
|
1253
|
+
FT /FTId=VAR_005975.
|
1254
|
+
FT VARIANT 246 246 M -> R (in a liver tumor).
|
1255
|
+
FT /FTId=VAR_005976.
|
1256
|
+
FT VARIANT 246 246 M -> T (in a leukemia and a lymphoma).
|
1257
|
+
FT /FTId=VAR_005977.
|
1258
|
+
FT VARIANT 246 246 M -> V (in many types of tumors).
|
1259
|
+
FT /FTId=VAR_005978.
|
1260
|
+
FT VARIANT 247 247 N -> I (in a lung tumor).
|
1261
|
+
FT /FTId=VAR_005980.
|
1262
|
+
FT VARIANT 247 247 N -> W (in a skin tumor).
|
1263
|
+
FT /FTId=VAR_005979.
|
1264
|
+
FT VARIANT 248 248 R -> G (in an endocrine tumor).
|
1265
|
+
FT /FTId=VAR_005981.
|
1266
|
+
FT VARIANT 248 248 R -> L (in tumors of hypopharynx, larynx
|
1267
|
+
FT and tonsil).
|
1268
|
+
FT /FTId=VAR_005982.
|
1269
|
+
FT VARIANT 248 248 R -> Q (in LFS and many types of tumors).
|
1270
|
+
FT /FTId=VAR_005983.
|
1271
|
+
FT VARIANT 248 248 R -> W (in LFS, esophageal adenocarcinoma
|
1272
|
+
FT and many types of tumors).
|
1273
|
+
FT /FTId=VAR_005984.
|
1274
|
+
FT VARIANT 249 249 R -> G (in a breast tumor).
|
1275
|
+
FT /FTId=VAR_005985.
|
1276
|
+
FT VARIANT 249 249 R -> S (in many types of tumors).
|
1277
|
+
FT /FTId=VAR_005986.
|
1278
|
+
FT VARIANT 251 251 I -> N (in HNSCC).
|
1279
|
+
FT /FTId=VAR_005987.
|
1280
|
+
FT VARIANT 252 252 L -> P (in LFS and many types of tumors).
|
1281
|
+
FT /FTId=VAR_005988.
|
1282
|
+
FT VARIANT 254 254 I -> N (in a breast tumor).
|
1283
|
+
FT /FTId=VAR_017908.
|
1284
|
+
FT VARIANT 254 254 I -> T (in a colon tumor).
|
1285
|
+
FT /FTId=VAR_017909.
|
1286
|
+
FT VARIANT 257 257 L -> P (in HNSCC).
|
1287
|
+
FT /FTId=VAR_005989.
|
1288
|
+
FT VARIANT 258 258 E -> D (in a colorectal tumor).
|
1289
|
+
FT /FTId=VAR_005990.
|
1290
|
+
FT VARIANT 258 258 E -> K (in LFS).
|
1291
|
+
FT /FTId=VAR_005991.
|
1292
|
+
FT VARIANT 272 272 V -> L (in LFS).
|
1293
|
+
FT /FTId=VAR_005992.
|
1294
|
+
FT VARIANT 273 273 R -> C (in LFS, colorectal tumor and oral
|
1295
|
+
FT squamous cell carcinoma).
|
1296
|
+
FT /FTId=VAR_005993.
|
1297
|
+
FT VARIANT 273 273 R -> G (in HNSCC).
|
1298
|
+
FT /FTId=VAR_005994.
|
1299
|
+
FT VARIANT 273 273 R -> H (in LFS, colon and esophagus
|
1300
|
+
FT tumors).
|
1301
|
+
FT /FTId=VAR_005995.
|
1302
|
+
FT VARIANT 274 274 V -> F (in a colorectal tumor).
|
1303
|
+
FT /FTId=VAR_005997.
|
1304
|
+
FT VARIANT 275 275 C -> W (in a breast and a stomach tumor).
|
1305
|
+
FT /FTId=VAR_005999.
|
1306
|
+
FT VARIANT 275 275 C -> Y (in LFS and tumors of brain, lung,
|
1307
|
+
FT kidney, stomach).
|
1308
|
+
FT /FTId=VAR_005998.
|
1309
|
+
FT VARIANT 277 277 C -> G (in a lung tumor).
|
1310
|
+
FT /FTId=VAR_006000.
|
1311
|
+
FT VARIANT 278 278 P -> A (in a breast tumor).
|
1312
|
+
FT /FTId=VAR_006001.
|
1313
|
+
FT VARIANT 278 278 P -> H (in a leukemia and a lymphoma).
|
1314
|
+
FT /FTId=VAR_006002.
|
1315
|
+
FT VARIANT 278 278 P -> L (in an esophagus and a lung
|
1316
|
+
FT tumor).
|
1317
|
+
FT /FTId=VAR_006003.
|
1318
|
+
FT VARIANT 278 278 P -> S (in oral squamous cell carcinoma).
|
1319
|
+
FT /FTId=VAR_006004.
|
1320
|
+
FT VARIANT 278 278 P -> T (in HNSCC; same patient as
|
1321
|
+
FT mutation His-281).
|
1322
|
+
FT /FTId=VAR_006005.
|
1323
|
+
FT VARIANT 279 279 G -> E (in a colorectal tumor).
|
1324
|
+
FT /FTId=VAR_006006.
|
1325
|
+
FT VARIANT 280 280 R -> I (in a colorectal tumor).
|
1326
|
+
FT /FTId=VAR_006008.
|
1327
|
+
FT VARIANT 280 280 R -> K (in a breast tumor).
|
1328
|
+
FT /FTId=VAR_006007.
|
1329
|
+
FT VARIANT 280 280 R -> T (in nasopharyngeal carcinoma).
|
1330
|
+
FT /FTId=VAR_006009.
|
1331
|
+
FT VARIANT 281 281 D -> A (in a leukemia and a lymphoma).
|
1332
|
+
FT /FTId=VAR_006010.
|
1333
|
+
FT VARIANT 281 281 D -> E (in many types of tumors).
|
1334
|
+
FT /FTId=VAR_006011.
|
1335
|
+
FT VARIANT 281 281 D -> G (in many types of tumors).
|
1336
|
+
FT /FTId=VAR_006012.
|
1337
|
+
FT VARIANT 281 281 D -> H (in HNSCC; same patient as
|
1338
|
+
FT mutation Thr-278).
|
1339
|
+
FT /FTId=VAR_006013.
|
1340
|
+
FT VARIANT 281 281 D -> V (in a colorectal tumor).
|
1341
|
+
FT /FTId=VAR_006014.
|
1342
|
+
FT VARIANT 282 282 R -> L (in a breast tumor).
|
1343
|
+
FT /FTId=VAR_006015.
|
1344
|
+
FT VARIANT 282 282 R -> W (in esophageal adenocarcinoma and
|
1345
|
+
FT many types of tumors).
|
1346
|
+
FT /FTId=VAR_006016.
|
1347
|
+
FT VARIANT 283 283 R -> C (in a colon tumor).
|
1348
|
+
FT /FTId=VAR_006017.
|
1349
|
+
FT VARIANT 283 283 R -> G (in a lung tumor).
|
1350
|
+
FT /FTId=VAR_006018.
|
1351
|
+
FT VARIANT 283 283 R -> H (in a colon tumor).
|
1352
|
+
FT /FTId=VAR_006019.
|
1353
|
+
FT VARIANT 283 283 R -> P (in a breast and a lung tumor).
|
1354
|
+
FT /FTId=VAR_006020.
|
1355
|
+
FT VARIANT 284 284 T -> A (in a colorectal tumor).
|
1356
|
+
FT /FTId=VAR_006021.
|
1357
|
+
FT VARIANT 284 284 T -> P (in a lung tumor).
|
1358
|
+
FT /FTId=VAR_006022.
|
1359
|
+
FT VARIANT 285 285 E -> K (in many types of tumors).
|
1360
|
+
FT /FTId=VAR_006023.
|
1361
|
+
FT VARIANT 285 285 E -> Q (in an uterus tumor).
|
1362
|
+
FT /FTId=VAR_006024.
|
1363
|
+
FT VARIANT 285 285 E -> V (in a liver tumor).
|
1364
|
+
FT /FTId=VAR_006025.
|
1365
|
+
FT VARIANT 286 286 E -> A (in LFS).
|
1366
|
+
FT /FTId=VAR_006026.
|
1367
|
+
FT VARIANT 286 286 E -> D (in a liver tumor).
|
1368
|
+
FT /FTId=VAR_006027.
|
1369
|
+
FT VARIANT 286 286 E -> G (in tumors of colon, lung, head
|
1370
|
+
FT and neck).
|
1371
|
+
FT /FTId=VAR_006028.
|
1372
|
+
FT VARIANT 286 286 E -> K (in many types of tumors).
|
1373
|
+
FT /FTId=VAR_006029.
|
1374
|
+
FT VARIANT 286 286 E -> Q (in esophageal adenocarcinoma).
|
1375
|
+
FT /FTId=VAR_006030.
|
1376
|
+
FT VARIANT 292 292 K -> I (in LFS).
|
1377
|
+
FT /FTId=VAR_015819.
|
1378
|
+
FT VARIANT 296 296 H -> P (in HNSCC).
|
1379
|
+
FT /FTId=VAR_006031.
|
1380
|
+
FT VARIANT 300 300 P -> R (in a skin tumor).
|
1381
|
+
FT /FTId=VAR_006032.
|
1382
|
+
FT VARIANT 301 301 P -> L (in a colon tumor).
|
1383
|
+
FT /FTId=VAR_006033.
|
1384
|
+
FT VARIANT 302 302 G -> E (in a colon tumor).
|
1385
|
+
FT /FTId=VAR_006034.
|
1386
|
+
FT VARIANT 302 302 G -> V (in a colon tumor).
|
1387
|
+
FT /FTId=VAR_006035.
|
1388
|
+
FT VARIANT 306 306 R -> Q (in a sarcoma).
|
1389
|
+
FT /FTId=VAR_006036.
|
1390
|
+
FT VARIANT 307 307 A -> T (in a breast tumor).
|
1391
|
+
FT /FTId=VAR_006037.
|
1392
|
+
FT VARIANT 309 309 P -> S (in a colon tumor).
|
1393
|
+
FT /FTId=VAR_006038.
|
1394
|
+
FT VARIANT 325 325 G -> V (in LFS).
|
1395
|
+
FT /FTId=VAR_006039.
|
1396
|
+
FT VARIANT 334 334 G -> V (in a lung tumor).
|
1397
|
+
FT /FTId=VAR_006040.
|
1398
|
+
FT VARIANT 337 337 R -> C (in LFS; nonclassical form; also
|
1399
|
+
FT found in a liver tumor).
|
1400
|
+
FT /FTId=VAR_006041.
|
1401
|
+
FT VARIANT 339 339 E -> K.
|
1402
|
+
FT /FTId=VAR_022316.
|
1403
|
+
FT VARIANT 366 366 S -> A.
|
1404
|
+
FT /FTId=VAR_022317.
|
1405
|
+
FT MUTAGEN 46 46 S->A: Abolishes phosphorylation by HIPK2
|
1406
|
+
FT and acetylation of K-382 by CREBBP.
|
1407
|
+
FT MUTAGEN 55 55 T->A: Blocks phosphorylation by TAF1.
|
1408
|
+
FT MUTAGEN 135 135 C->Y: Decreased E6-mediated binding to
|
1409
|
+
FT E6-AP.
|
1410
|
+
FT MUTAGEN 382 382 K->A: Abolishes acetylation by CREBBP.
|
1411
|
+
FT CONFLICT 76 76 A -> G (in Ref. 2; AAA59987).
|
1412
|
+
FT CONFLICT 155 155 T -> P (in Ref. 16).
|
1413
|
+
FT CONFLICT 254 254 I -> D (in Ref. 7; CAA42635).
|
1414
|
+
FT CONFLICT 262 262 G -> V (in Ref. 19).
|
1415
|
+
FT CONFLICT 282 282 R -> Q (in Ref. 18).
|
1416
|
+
FT STRAND 103 103
|
1417
|
+
FT HELIX 105 107
|
1418
|
+
FT TURN 108 108
|
1419
|
+
FT STRAND 110 112
|
1420
|
+
FT TURN 120 121
|
1421
|
+
FT STRAND 124 127
|
1422
|
+
FT TURN 128 131
|
1423
|
+
FT STRAND 132 135
|
1424
|
+
FT TURN 137 138
|
1425
|
+
FT STRAND 141 146
|
1426
|
+
FT TURN 153 154
|
1427
|
+
FT STRAND 156 163
|
1428
|
+
FT TURN 166 170
|
1429
|
+
FT HELIX 177 181
|
1430
|
+
FT TURN 191 192
|
1431
|
+
FT STRAND 195 197
|
1432
|
+
FT TURN 201 202
|
1433
|
+
FT STRAND 204 207
|
1434
|
+
FT TURN 209 211
|
1435
|
+
FT STRAND 214 219
|
1436
|
+
FT TURN 225 226
|
1437
|
+
FT STRAND 230 236
|
1438
|
+
FT TURN 240 241
|
1439
|
+
FT TURN 243 248
|
1440
|
+
FT STRAND 251 258
|
1441
|
+
FT TURN 260 261
|
1442
|
+
FT STRAND 264 274
|
1443
|
+
FT HELIX 278 286
|
1444
|
+
FT HELIX 335 354
|
1445
|
+
FT HELIX 376 378
|
1446
|
+
FT HELIX 379 384
|
1447
|
+
FT TURN 385 386
|
1448
|
+
SQ SEQUENCE 393 AA; 43653 MW; AD5C149FD8106131 CRC64;
|
1449
|
+
MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
|
1450
|
+
DEAPRMPEAA PPVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
|
1451
|
+
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
|
1452
|
+
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
|
1453
|
+
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP
|
1454
|
+
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QIRGRERFEM FRELNEALEL KDAQAGKEPG
|
1455
|
+
GSRAHSSHLK SKKGQSTSRH KKLMFKTEGP DSD
|
1456
|
+
//
|