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General information about the entry
Entry name P53_HUMAN
Primary accession number P04637
Secondary accession numbers Q16848 Q9UBI2
Entered in Swiss-Prot in Release 05, August 1987
Sequence was last modified in Release 10, March 1989
Annotations were last modified in    Release 41, February 2003
Name and origin of the protein
Protein name Cellular tumor antigen p53
Synonyms Tumor suppressor p53
Phosphoprotein p53
Antigen NY-CO-13
Gene name
TP53 or P53
From
Homo sapiens (Human) [TaxID: 9606]
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
References
[1]
SEQUENCE FROM NUCLEIC ACID.
MEDLINE=85230577; PubMed=4006916; [NCBI, ExPASy, EBI, Israel, Japan]
Zakut-Houri R., Bienz-Tadmor B., Givol D., Oren M.;
"Human p53 cellular tumor antigen: cDNA sequence and expression in COS cells.";
EMBO J. 4:1251-1255(1985).
[2]
SEQUENCE FROM NUCLEIC ACID.
MEDLINE=87064416; PubMed=2946935; [NCBI, ExPASy, EBI, Israel, Japan]
Lamb P., Crawford L.;
"Characterization of the human p53 gene.";
Mol. Cell. Biol. 6:1379-1385(1986).
[3]
SEQUENCE FROM NUCLEIC ACID.
MEDLINE=85267676; PubMed=3894933; [NCBI, ExPASy, EBI, Israel, Japan]
Harlow E., Williamson N.M., Ralston R., Helfman D.M., Adams T.E.;
"Molecular cloning and in vitro expression of a cDNA clone for human cellular tumor antigen p53.";
Mol. Cell. Biol. 5:1601-1610(1985).
[4]
SEQUENCE FROM NUCLEIC ACID.
MEDLINE=87089826; PubMed=3025664; [NCBI, ExPASy, EBI, Israel, Japan]
Harris N., Brill E., Shohat O., Prokocimer M., Wolf D., Arai N., Rotter V.;
"Molecular basis for heterogeneity of the human p53 protein.";
Mol. Cell. Biol. 6:4650-4656(1986).
[5]
SEQUENCE FROM NUCLEIC ACID.
MEDLINE=89108008; PubMed=2905688; [NCBI, ExPASy, EBI, Israel, Japan]
Buchman V.L., Chumakov P.M., Ninkina N.N., Samarina O.P., Georgiev G.P.;
"A variation in the structure of the protein-coding region of the human p53 gene.";
Gene 70:245-252(1988).
[6]
SEQUENCE OF 101-393 FROM NUCLEIC ACID.
MEDLINE=85126934; PubMed=6396087; [NCBI, ExPASy, EBI, Israel, Japan]
Matlashewski G., Lamb P., Pim D., Peacock J., Crawford L., Benchimol S.;
"Isolation and characterization of a human p53 cDNA clone: expression of the human p53 gene.";
EMBO J. 3:3257-3262(1984).
[7]
SEQUENCE FROM NUCLEIC ACID.
MEDLINE=92007731; PubMed=1915267; [NCBI, ExPASy, EBI, Israel, Japan]
Farrell P.J., Allan G., Shanahan F., Vousden K.H., Crook T.;
"p53 is frequently mutated in Burkitt's lymphoma cell lines.";
EMBO J. 10:2879-2887(1991).
[8]
SEQUENCE FROM NUCLEIC ACID.
Chumakov P.M., Almazov V.P., Jenkins J.R.;
Submitted (JUN-1991) to the EMBL/GenBank/DDBJ databases.
[9]
SEQUENCE FROM NUCLEIC ACID.
Rozemuller E.H., Tilanus M.G.J.;
"P53 genomic sequence. Corrections and polymorphism.";
Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases.
[10]
SEQUENCE FROM NUCLEIC ACID.
Anderson C.W., Kieleczawa J., Allalunis-Turner J.;
"Human p53 from the malignant glioma-derived cell lines M059J and M059K have a cancer-associated mutation in exon 8.";
Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases.
[11]
ALTERNATIVE SPLICING.
MEDLINE=96197761; PubMed=8632903; [NCBI, ExPASy, EBI, Israel, Japan]
Flaman J.-M., Waridel F., Estreicher A., Vannier A., Limacher J.-M., Gilbert D., Iggo R., Frebourg T.;
"The human tumour suppressor gene p53 is alternatively spliced in normal cells.";
Oncogene 12:813-818(1996).
[12]
NUCLEAR LOCALIZATION SIGNAL.
MEDLINE=90191730; PubMed=2156209; [NCBI, ExPASy, EBI, Israel, Japan]
Addison C., Jenkins J.R., Sturzbecher H.-W.;
"The p53 nuclear localisation signal is structurally linked to a p34cdc2 kinase motif.";
Oncogene 5:423-426(1990).
[13]
MINIMAL REPRESSION DOMAIN.
PubMed=11007800; [NCBI, EBI]
Hong T.M., Chen J.J., Peck K., Yang P.C., Wu C.W.;
"p53 amino acids 339-346 represent the minimal p53 repression domain.";
J. Biol. Chem. 276:1510-1515(2001).
[14]
PHOSPHORYLATION BY P60/CDC2 AND CYCLIN B/CDC2.
MEDLINE=90280456; PubMed=2141171; [NCBI, ExPASy, EBI, Israel, Japan]
Bischoff J.R., Friedman P.N., Marshak D.R., Prives C., Beach D.;
"Human p53 is phosphorylated by p60-cdc2 and cyclin B-cdc2.";
Proc. Natl. Acad. Sci. U.S.A. 87:4766-4770(1990).
[15]
DEPHOSPHORYLATION BY PP2A.
MEDLINE=91172186; PubMed=1848668; [NCBI, ExPASy, EBI, Israel, Japan]
Scheidtmann K.H., Mumby M.C., Rundell K., Walter G.;
"Dephosphorylation of simian virus 40 large-T antigen and p53 protein by protein phosphatase 2A: inhibition by small-t antigen.";
Mol. Cell. Biol. 11:1996-2003(1991).
[16]
O-GLYCOSYLATION.
MEDLINE=96197773; PubMed=8632915; [NCBI, ExPASy, EBI, Israel, Japan]
Shaw P., Freeman J., Bovey R., Iggo R.;
"Regulation of specific DNA binding by p53: evidence for a role for O-glycosylation and charged residues at the carboxy-terminus.";
Oncogene 12:921-930(1996).
[17]
PHOSPHORYLATION BY PRPK.
MEDLINE=21570176; PubMed=11546806; [NCBI, ExPASy, EBI, Israel, Japan]
Abe Y., Matsumoto S., Wei S., Nezu K., Miyoshi A., Kito K., Ueda N., Shigemoto K., Hitsumoto Y., Nikawa J.-I., Enomoto Y.;
"Cloning and characterization of a p53-related protein kinase expressed in interleukin-2-activated cytotoxic T-cells, epithelial tumor cell lines, and the testes.";
J. Biol. Chem. 276:44003-44011(2001).
[18]
STRUCTURE BY NMR OF 319-360.
MEDLINE=94294808; PubMed=8023159; [NCBI, ExPASy, EBI, Israel, Japan]
Clore G.M., Omichinski J.G., Sakaguchi K., Zambrano N., Sakamoto H., Appella E., Gronenborn A.M.;
"High-resolution structure of the oligomerization domain of p53 by multidimensional NMR.";
Science 265:386-391(1994).
[19]
STRUCTURE BY NMR OF 325-355.
MEDLINE=95292092; PubMed=7773777; [NCBI, ExPASy, EBI, Israel, Japan]
Lee W., Harvey T.S., Yin Y., Yau P., Litchfield D., Arrowsmith C.H.;
"Solution structure of the tetrameric minimum transforming domain of p53.";
Nat. Struct. Biol. 1:877-890(1994).
[20]
STRUCTURE BY NMR OF 326-354.
MEDLINE=98026899; PubMed=9321402; [NCBI, ExPASy, EBI, Israel, Japan]
McCoy M., Stavridi E.S., Waterman J.L., Wieczorek A.M., Opella S.J., Halazonetis T.D.;
"Hydrophobic side-chain size is a determinant of the three-dimensional structure of the p53 oligomerization domain.";
EMBO J. 16:6230-6236(1997).
[21]
X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 94-289.
MEDLINE=94294806; PubMed=8023157; [NCBI, ExPASy, EBI, Israel, Japan]
Cho Y., Gorina S., Jeffrey P.D., Pavletich N.P.;
"Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations.";
Science 265:346-355(1994).
[22]
X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 325-356.
MEDLINE=95184011; PubMed=7878469; [NCBI, ExPASy, EBI, Israel, Japan]
Jeffrey P.D., Gorina S., Pavletich N.P.;
"Crystal structure of the tetramerization domain of the p53 tumor suppressor at 1.7 angstroms.";
Science 267:1498-1502(1995).
[23]
X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 13-29 IN COMPLEX WITH MDM2.
MEDLINE=97081050; PubMed=8875929; [NCBI, ExPASy, EBI, Israel, Japan]
Kussie P.H., Gorina S., Marechal V., Elenbaas B., Moreau J., Levine A.J., Pavletich N.P.;
"Structure of the MDM2 oncoprotein bound to the p53 tumor suppressor transactivation domain.";
Science 274:948-953(1996).
[24]
X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 97-287 IN COMPLEX WITH 53BP2.
MEDLINE=97035414; PubMed=8875926; [NCBI, ExPASy, EBI, Israel, Japan]
Gorina S., Pavletich N.P.;
"Structure of the p53 tumor suppressor bound to the ankyrin and SH3 domains of 53BP2.";
Science 274:1001-1005(1996).
[25]
REVIEW.
MEDLINE=94090335; PubMed=8266092; [NCBI, ExPASy, EBI, Israel, Japan]
Harris C.C.;
"p53: at the crossroads of molecular carcinogenesis and risk assessment.";
Science 262:1980-1981(1993).
[26]
REVIEW ON VARIANTS.
MEDLINE=91289156; PubMed=1905840; [NCBI, ExPASy, EBI, Israel, Japan]
Hoolstein M., Sidransky D., Vogelstein B., Harris C.C.;
"p53 mutations in human cancers.";
Science 253:49-53(1991).
[27]
REVIEW ON VARIANTS.
MEDLINE=96271983; PubMed=8829653; [NCBI, ExPASy, EBI, Israel, Japan]
de Vries E.M.G., Ricke D.O., de Vries T.N., Hartmann A., Blaszyk H., Liao D., Soussi T., Kovach J.S., Sommer S.S.;
"Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses.";
Hum. Mutat. 7:202-213(1996).
[28]
VARIANT ARG-72.
MEDLINE=91153807; PubMed=1999338; [NCBI, ExPASy, EBI, Israel, Japan]
Olschwang S., Laurent-Puig P., Vassal A., Salmon R.-J., Thomas G.;
"Characterization of a frequent polymorphism in the coding sequence of the Tp53 gene in colonic cancer patients and a control population.";
Hum. Genet. 86:369-370(1991).
[29]
VARIANT LFS THR-133.
MEDLINE=92034774; PubMed=1933902; [NCBI, ExPASy, EBI, Israel, Japan]
Law J.C., Strong L.C., Chidambaram A., Ferrell R.E.;
"A germ line mutation in exon 5 of the p53 gene in an extended cancer family.";
Cancer Res. 51:6385-6387(1991).
[30]
VARIANTS LFS CYS-245; TRP-248; PRO-252 AND LYS-258.
MEDLINE=91057657; PubMed=1978757; [NCBI, ExPASy, EBI, Israel, Japan]
Malkin D., Li F.P., Strong L.C., Fraumeni J.F. Jr., Nelson C.E., Kim D.H., Kassel J., Gryka M.A., Bischoff F.Z., Tainsky M.A., Friend S.H.;
"Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.";
Science 250:1233-1238(1990).
[31]
VARIANT LFS ASP-245.
MEDLINE=91080929; PubMed=2259385; [NCBI, ExPASy, EBI, Israel, Japan]
Srivastava S., Zou Z., Pirollo K., Blattner W., Chang E.H.;
"Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.";
Nature 348:747-749(1990).
[32]
VARIANT LFS LEU-272.
MEDLINE=92147883; PubMed=1737852; [NCBI, ExPASy, EBI, Israel, Japan]
Felix C.A., Nau M.M., Takahashi T., Mitsudomi T., Chiba I., Poplack D.G., Reaman G.H., Cole D.E., Letterio J.J., Whang-Peng J., Knutsen T., Minna J.D.;
"Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.";
J. Clin. Invest. 89:640-647(1992).
[33]
VARIANTS LFS HIS-273 AND VAL-325.
MEDLINE=92228023; PubMed=1565144; [NCBI, ExPASy, EBI, Israel, Japan]
Malkin D., Jolly K.W., Barbier N., Look A.T., Friend S.H., Gebhardt M.C., Andersen T.I., Boerresen A.-L., Li F.P., Garber J., Strong L.C.;
"Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.";
New Engl. J. Med. 326:1309-1315(1992).
[34]
VARIANTS BREAST TUMORS GLN-132; SER-249; LYS-280 AND LYS-285.
MEDLINE=90295284; PubMed=1694291; [NCBI, ExPASy, EBI, Israel, Japan]
Bartek J., Iggo R., Gannon J., Lane D.P.;
"Genetic and immunochemical analysis of mutant p53 in human breast cancer cell lines.";
Oncogene 5:893-899(1990).
[35]
VARIANTS COLON TUMORS PHE-241 AND HIS-273.
MEDLINE=91017544; PubMed=1699228; [NCBI, ExPASy, EBI, Israel, Japan]
Rodrigues N.R., Rowan A., Smith M.E.F., Kerr I.B., Bodmer W.F., Gannon J.V., Lane D.P.;
"p53 mutations in colorectal cancer.";
Proc. Natl. Acad. Sci. U.S.A. 87:7555-7559(1990).
[36]
VARIANTS ESOPHAGUS TUMOR VAL-154; VAL-245; GLN-248; LEU-278 AND SER-278.
MEDLINE=91088630; PubMed=2263646; [NCBI, ExPASy, EBI, Israel, Japan]
Hollstein M.C., Metcalf R.A., Welsh J.A., Montesano R., Harris C.C.;
"Frequent mutation of the p53 gene in human esophageal cancer.";
Proc. Natl. Acad. Sci. U.S.A. 87:9958-9961(1990).
[37]
VARIANTS COLORECTAL CANCER MUTATIONS.
MEDLINE=91282784; PubMed=1647768; [NCBI, ExPASy, EBI, Israel, Japan]
Ishioka C., Sato T., Gamoh M., Suzuki T., Shibata H., Kanamaru R., Wakui A., Yamazaki T.;
"Mutations of the P53 gene, including an intronic point mutation, in colorectal tumors.";
Biochem. Biophys. Res. Commun. 177:901-906(1991).
[38]
VARIANTS ESOPHAGUS TUMORS LEU-152; ALA-155; HIS-175; PHE-176 AND HIS-273.
MEDLINE=91330175; PubMed=1868473; [NCBI, ExPASy, EBI, Israel, Japan]
Casson A.G., Mukhopadhyay T., Cleary K.R., Ro J.Y., Levin B., Roth J.A.;
"p53 gene mutations in Barrett's epithelium and esophageal cancer.";
Cancer Res. 51:4495-4499(1991).
[39]
VARIANTS HEPATOCELLULAR CARCINOMAS MUTATIONS IN CHINA.
MEDLINE=91187113; PubMed=1849234; [NCBI, ExPASy, EBI, Israel, Japan]
Hsu I.C., Metcalf R.A., Sun T., Welsh J.A., Wang N.J., Harris C.C.;
"Mutational hotspot in the p53 gene in human hepatocellular carcinomas.";
Nature 350:427-428(1991).
[40]
VARIANTS HEPATOCELLULAR CARCINOMAS MUTATIONS IN SOUTH AFRICA.
MEDLINE=91187114; PubMed=1672732; [NCBI, ExPASy, EBI, Israel, Japan]
Bressac B., Kew M., Wands J., Ozturk M.;
"Selective G to T mutations of p53 gene in hepatocellular carcinoma from southern Africa.";
Nature 350:429-431(1991).
[41]
VARIANTS HNSC PHE-176; PHE-242; CYS-245; LEU-248 AND HIS-273.
MEDLINE=93007999; PubMed=1394225; [NCBI, ExPASy, EBI, Israel, Japan]
Somers K.D., Merrick M.A., Lopez M.E., Incognito L.S., Schechter G.L., Casey G.;
"Frequent p53 mutations in head and neck cancer.";
Cancer Res. 52:5997-6000(1992).
[42]
VARIANTS IN ANOGENITAL CARCINOMAS.
MEDLINE=93010989; PubMed=1327751; [NCBI, ExPASy, EBI, Israel, Japan]
Crook T., Vousden K.H.;
"Properties of p53 mutations detected in primary and secondary cervical cancers suggest mechanisms of metastasis and involvement of environmental carcinogens.";
EMBO J. 11:3935-3940(1992).
[43]
VARIANTS OSCC CYS-205; GLU-281 AND LYS-285.
MEDLINE=93093790; PubMed=1459726; [NCBI, ExPASy, EBI, Israel, Japan]
Sakai E., Rikimaru K., Ueda M., Matsumoto Y., Ishii N., Enomoto S., Yamamoto H., Tsuchida N.;
"The p53 tumor-suppressor gene and ras oncogene mutations in oral squamous-cell carcinoma.";
Int. J. Cancer 52:867-872(1992).
[44]
VARIANT 177-PRO--HIS-178 DUPL.
MEDLINE=93265016; PubMed=1303181; [NCBI, ExPASy, EBI, Israel, Japan]
Bhatia K., Guiterrez M.I., Magrath I.T.;
"A novel mutation in the p53 gene in a Burkitt's lymphoma cell line.";
Hum. Mol. Genet. 1:207-208(1992).
[45]
VARIANTS IN BURKITT'S LYMPHOMAS.
MEDLINE=93064692; PubMed=1437144; [NCBI, ExPASy, EBI, Israel, Japan]
Duthu A., Debuire B., Romano J.W., Ehrhart J.C., Fiscella M., May E., Appella E., May P.;
"p53 mutations in Raji cells: characterization and localization relative to other Burkitt's lymphomas.";
Oncogene 7:2161-2167(1992).
[46]
VARIANT NASOPHARYNGEAL CARCINOMA THR-280.
MEDLINE=92335329; PubMed=1631151; [NCBI, ExPASy, EBI, Israel, Japan]
Sun Y., Hegamyer G., Heng Y.-J., Hildesheim A., Chen J.-Y., Cao Y., Yao K.-T., Colburn N.H.;
"An infrequent point mutation of the p53 gene in human nasopharyngeal carcinoma.";
Proc. Natl. Acad. Sci. U.S.A. 89:6516-6520(1992).
[47]
VARIANTS IN SCC OF THE HNSC.
MEDLINE=93235942; PubMed=7682763; [NCBI, ExPASy, EBI, Israel, Japan]
Caamano J., Zhang S.Y., Rosvold E.A., Bauer B., Klein-Szanto A.J.P.;
"p53 alterations in human squamous cell carcinomas and carcinoma cell lines.";
Am. J. Pathol. 142:1131-1139(1993).
[48]
VARIANTS IN HNSC.
MEDLINE=94006220; PubMed=8402617; [NCBI, ExPASy, EBI, Israel, Japan]
Boyle J.O., Hakim J., Koch W., van der Riet P., Hruban R.H., Roa R.A., Correo R., Eby Y.J., Ruppert J.M., Sidransky D.;
"The incidence of p53 mutations increases with progression of head and neck cancer.";
Cancer Res. 53:4477-4480(1993).
[49]
VARIANTS IN COLON TUMORS.
MEDLINE=93330562; PubMed=8336944; [NCBI, ExPASy, EBI, Israel, Japan]
Hamelin R., Jego N., Laurent-Puig P., Vidaud M., Thomas G.;
"Efficient screening of p53 mutations by denaturing gradient gel electrophoresis in colorectal tumors.";
Oncogene 8:2213-2220(1993).
[50]
CHARACTERIZATION OF VARIANT ALA-143.
MEDLINE=94283378; PubMed=8013454; [NCBI, ExPASy, EBI, Israel, Japan]
Zhang W., Guo X.-Y., Hu G.-Y., Liu W.-B., Shay J.W., Deisseroth A.B.;
"A temperature-sensitive mutant of human p53.";
EMBO J. 13:2535-2544(1994).
[51]
VARIANTS LFS HIS-175; ARG-193; GLN-248; CYS-273 AND TYR-275.
MEDLINE=95193787; PubMed=7887414; [NCBI, ExPASy, EBI, Israel, Japan]
Frebourg T., Barbier N., Yan Y.-X., Garber J.E., Dreyfus M., Fraumeni J.F. Jr., Li F.P., Friend S.H.;
"Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.";
Am. J. Hum. Genet. 56:608-615(1995).
[52]
VARIANT LFS HIS-175.
MEDLINE=96423319; PubMed=8825920; [NCBI, ExPASy, EBI, Israel, Japan]
Varley J.M., McGrown G., Thorncroft M., Tricker K.J., Teare M.D., Santibanez-Koref M.F., Houlston R.S., Martin J., Birch J.M., Evans D.G.R.;
"An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.";
J. Med. Genet. 32:942-945(1995).
[53]
VARIANTS BA PHE-176; SER-245; TRP-248; TRP-282 AND GLN-286.
MEDLINE=96233927; PubMed=8829627; [NCBI, ExPASy, EBI, Israel, Japan]
Audrezet M.-P., Robaszkiewicz M., Mercier B., Nousbaum J.-B., Hardy E., Bail J.-P., Volant A., Lozac'H P., Gouerou H., Ferec C.;
"Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.";
Hum. Mutat. 7:109-113(1996).
[54]
VARIANTS COLORECTAL TUMORS.
MEDLINE=97255965; PubMed=9101296; [NCBI, ExPASy, EBI, Israel, Japan]
Guldberg P., Nedergaard T., Nielsen H.J., Olsen A.C., Ahrenkiel V., Zeuthen J.;
"Single-step DGGE-based mutation scanning of the p53 gene: application to genetic diagnosis of colorectal cancer.";
Hum. Mutat. 9:348-355(1997).
[55]
VARIANT COLORECTAL CARCINOMA ILE-157.
MEDLINE=98080146; PubMed=9419979; [NCBI, ExPASy, EBI, Israel, Japan]
Miyaki M., Nishio J., Konishi M., Kikuchi-Yanoshita R., Tanaka K., Muraoka M., Nagato M., Chong J.-M., Koike M., Terada T., Kawahara Y., Fukutome A., Tomiyama J., Chuganji Y., Momoi M., Utsunomiya J.;
"Drastic genetic instability of tumors and normal tissues in Turcot syndrome.";
Oncogene 15:2877-2881(1997).
[56]
VARIANTS SER-152; ILE-169; PHE-176; THR-195; CYS-220; ILE-230; CYS-273 AND SER-278.
MEDLINE=98111377; PubMed=9450901; [NCBI, ExPASy, EBI, Israel, Japan]
van Rensburg E.J., Engelbrecht S., van Heerden W.F.P., Kotze M.J., Raubenheimer E.J.;
"Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample.";
Hum. Mutat. 11:39-44(1998).
[57]
VARIANT NONCLASSICAL LFS CYS-337.
MEDLINE=98112421; PubMed=9452042; [NCBI, ExPASy, EBI, Israel, Japan]
Luca J.W., Strong L.C., Hansen M.F.;
"A germline missense mutation R337C in exon 10 of the human p53 gene.";
Hum. Mutat. Suppl. 1:S58-S61(1998).
Comments
  • FUNCTION: Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression.
  • SUBUNIT: Binds DNA as a homotetramer. In vitro, the interaction of TP53 with cancer-associated/HPV (E6) viral proteins leads to ubiquitination and degradation of TP53 giving a possible model for cell growth regulation. This complex formation requires an additional factor, E6-AP, which stably associates with TP53 in the presence of E6.
  • SUBCELLULAR LOCATION: Nuclear.
  • ALTERNATIVE PRODUCTS: 2 isoforms; 1 (shown here) and 2/I9RET; are produced by alternative splicing. Isoform 2 seems to be non-functional is expressed in quiescent lymphocytes.
  • PTM: Phosphorylation on Ser residues mediates transcriptional activation.
  • PTM: Dephosphorylated by PP2A. SV40 small T antigen inhibits the dephosphorylation by the AC form of PP2A.
  • PTM: O-linked glycosylation in the C-terminal basic region was studied in EB-1 cell line.
  • DISEASE: TP53 is found in increased amounts in a wide variety of transformed cells. TP53 is frequently mutated or inactivated in about 60% of cancers.
  • DISEASE: Defects in TP53 are also the cause of germline cancers such as Li-Fraumeni syndrome (LFS) [MIM:151623]. LFS is an autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of both a proband with a sarcoma and two other first-degree relatives with a cancer by age 45 years. In these families the affected relatives develop a diverse set of malignancies including breast carcinomas, sarcomas, and brain tumors at unusually early ages.
  • DISEASE: Variant Ala-143 is temperature sensitive. At 32.5 degrees celsius it possesses strong DNA binding ability, but at 37.5 degrees celsius its transcriptional activities are greatly reduced.
  • DISEASE: Defects in TP53 are also the cause of Barrett's adenocarcinomas (BA). BA is a condition in which the normally stratified squamous epithelium of the lower esophagus is replaced by a metaplastic columnar epithelium. The condition develops as a complication in approximately 10% of patients with chronic gastroesophageal reflux disease and predisposes to the development of esophageal adenocarcinoma.
  • DISEASE: Defects in TP53 are the cause of head and neck squamous carcinomas (HNSC) and oral squamous cell carcinomas (OSCC). Cigarette smoke is a prime mutagenic agent in cancer of the aerodigestive tract.
  • SIMILARITY: BELONGS TO THE P53 FAMILY.
  • DATABASE: NAME=HotMolecBase; NOTE=p53 entry; WWW="http://bioinformatics.weizmann.ac.il/hotmolecbase/entries/p53.htm".
  • DATABASE: NAME=IARC p53; NOTE=IARC db of somatic p53 mutations; WWW="http://www.iarc.fr/p53/homepage.htm".
  • DATABASE: NAME=Tokyo p53; NOTE=University of Tokyo db of p53 mutations; WWW="http://p53.genome.ad.jp/".
  • DATABASE: NAME=Atlas Genet. Cytogenet. Oncol. Haematol.; WWW="http://www.infobiogen.fr/services/chromcancer/Genes/P53ID88.html".
Copyright
This SWISS-PROT entry is copyright. It is produced through a collaboration between the Swiss Institute of Bioinformatics and the EMBL outstation - the European Bioinformatics Institute. There are no restrictions on its use by non-profit institutions as long as its content is in no way modified and this statement is not removed. Usage by and for commercial entities requires a license agreement (See http://www.isb-sib.ch/announce/ or send an email to license@isb-sib.ch).
Cross-references
EMBL
M14695; AAA61212.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
M22898; AAA59988.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
M22882; AAA59988.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M22883; AAA59988.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M22884; AAA59988.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M22887; AAA59988.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M22888; AAA59988.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M22894; AAA59988.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M22895; AAA59988.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M22896; AAA59988.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M22897; AAA59988.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
K03199; AAA59989.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
X01405; CAA25652.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
M14694; AAA61211.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
X02469; CAA26306.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
U94788; AAC12971.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF136271; AAD28628.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF136270; AAD28628.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
X60012; CAA42627.1; ALT_TERM.[EMBL / GenBank / DDBJ] [CoDingSequence]
X54156; CAA38095.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR A25224; A25224.
A25397; A25397.
B25397; B25397.
JT0436; JT0436.
PDB
1OLG; 08-MAR-95.[ExPASy / RCSB]
1OLH; 31-MAR-95.[ExPASy / RCSB]
1SAE; 15-OCT-95.[ExPASy / RCSB]
1SAF; 15-OCT-95.[ExPASy / RCSB]
1SAG; 15-OCT-95.[ExPASy / RCSB]
1SAH; 15-OCT-95.[ExPASy / RCSB]
1SAI; 15-OCT-95.[ExPASy / RCSB]
1SAJ; 15-OCT-95.[ExPASy / RCSB]
1SAK; 15-OCT-95.[ExPASy / RCSB]
1SAL; 15-OCT-95.[ExPASy / RCSB]
1TSR; 29-JAN-96.[ExPASy / RCSB]
1AIE; 16-JUN-97.[ExPASy / RCSB]
1PES; 07-FEB-95.[ExPASy / RCSB]
1PET; 07-FEB-95.[ExPASy / RCSB]
1TUP; 07-DEC-95.[ExPASy / RCSB]
1YCQ; 19-NOV-97.[ExPASy / RCSB]
1YCR; 19-NOV-97.[ExPASy / RCSB]
1YCS; 19-NOV-97.[ExPASy / RCSB]
1A1U; 08-APR-98.[ExPASy / RCSB]
1C26; 24-JAN-01.[ExPASy / RCSB]
Detailed list of linked structures.
TRANSFAC T00671; -.
SWISS-2DPAGE P04637; HUMAN.
Genew HGNC:11998; TP53.
CleanEx HGNC:11998; TP53.
MIM 191170 [NCBI / EBI].
151623 [NCBI / EBI].
GeneCards TP53.
GeneLynx TP53; Homo sapiens.
SOURCE TP53; Homo sapiens.
Ensembl P04637; Homo sapiens. [Entry / Contig view]
InterPro IPR002117; P53.
Graphical view of domain structure.
Pfam PF00870; P53; 1.
PRINTS PR00386; P53SUPPRESSR.
ProDom PD002681; P53; 1.
[Domain structure / List of seq. sharing at least 1 domain].
PROSITE PS00348; P53; 1.
BLOCKS P04637.
ProtoNet P04637.
ProtoMap P04637.
PRESAGE P04637.
DIP P04637.
ModBase P04637.
Keywords
Anti-oncogene; DNA-binding; Transcription regulation; Activator; Nuclear protein; Phosphorylation; Glycoprotein; Apoptosis; Alternative splicing; Disease mutation; Polymorphism; 3D-structure; Li-Fraumeni syndrome.
Features
KeyFrom   To Length Description
DOMAIN   1    44  44     TRANSCRIPTION ACTIVATION (ACIDIC).
DNA_BIND   102   292  191     
DOMAIN   325   356  32     OLIGOMERIZATION.
DOMAIN   368   387  20     BASIC (REPRESSION OF DNA-BINDING).
DOMAIN   241   248  8     INTERACTS WITH THE 53BP2 SH3 DOMAIN.
DOMAIN   311   323  13     NUCLEAR LOCALIZATION SIGNAL.
DOMAIN   339   346  8     TRANSCRIPTIONAL REPRESSION.
MOD_RES   15    15        PHOSPHORYLATION (BY PRPK).
MOD_RES   315   315        PHOSPHORYLATION (BY CDC2).
MOD_RES   392   392        PHOSPHORYLATION (BY SIMILARITY).
VARSPLIC   332   341        IRGRERFEMF -> DGTSFQKENC (IN ISOFORM 2).
VARSPLIC   342   393        MISSING (IN ISOFORM 2).
VARIANT   7     7        D -> H (IN A SKIN TUMOR).
/FTId=VAR_005851.
VARIANT   35    35        L -> F (IN A LIVER TUMOR).
/FTId=VAR_005852.
VARIANT   43    43        L -> S (IN A RENAL TUMOR).
/FTId=VAR_005853.
VARIANT   47    47        P -> S (IN DBSNP:1800371) [NCBI/Ensembl].
/FTId=VAR_014632.
VARIANT   53    53        W -> C (IN A LEUKEMIA AND A LYMPHOMA).
/FTId=VAR_005854.
VARIANT   60    60        P -> S (IN A LEUKEMIA AND A LYMPHOMA).
/FTId=VAR_005855.
VARIANT   72    72        P -> R (IN DBSNP:1042522) [NCBI/Ensembl].
/FTId=VAR_005856.
VARIANT   79    79        A -> T (IN CLONE P53-H-1).
/FTId=VAR_005857.
VARIANT   87    87        P -> Q (IN A BRAIN TUMOR).
/FTId=VAR_005858.
VARIANT   94    94        S -> T (IN A COLON TUMOR).
/FTId=VAR_005859.
VARIANT   110   110        R -> C (IN A LIVER AND AN UTERUS TUMOR).
/FTId=VAR_005860.
VARIANT   110   110        R -> L (IN A LIVER TUMOR).
/FTId=VAR_005861.
VARIANT   110   110        R -> P (IN A BREAST TUMOR).
/FTId=VAR_005862.
VARIANT   113   113        F -> C (IN A LUNG TUMOR).
/FTId=VAR_005863.
VARIANT   125   125        T -> M (IN A LUNG TUMOR).
/FTId=VAR_005864.
VARIANT   126   126        Y -> D (IN A COLORECTAL TUMOR).
/FTId=VAR_005865.
VARIANT   126   126        Y -> N (IN A LEUKEMIA AND A LYMPHOMA).
/FTId=VAR_005866.
VARIANT   127   127        S -> F (IN A LUNG TUMOR).
/FTId=VAR_005867.
VARIANT   128   128        P -> S (IN A BREAST TUMOR).
/FTId=VAR_005868.
VARIANT   129   129        A -> D (IN A SARCOMA).
/FTId=VAR_005869.
VARIANT   130   130        L -> R (IN A LIVER TUMOR).
/FTId=VAR_005870.
VARIANT   131   131        N -> S (IN A LIVER TUMOR).
/FTId=VAR_005871.
VARIANT   131   131        N -> K (IN A COLON TUMOR).
/FTId=VAR_005872.
VARIANT   132   132        K -> M (IN A SARCOMA).
/FTId=VAR_005873.
VARIANT   132   132        K -> Q (IN A BREAST TUMOR).
/FTId=VAR_005874.
VARIANT   133   133        M -> T (IN LFS).
/FTId=VAR_005875.
VARIANT   135   135        C -> S (IN A COLON TUMOR).
/FTId=VAR_005876.
VARIANT   135   135        C -> F (IN A COLON TUMOR).
/FTId=VAR_005877.
VARIANT   136   136        Q -> E (IN A BREAST TUMOR).
/FTId=VAR_005878.
VARIANT   136   136        Q -> K (IN A COLON TUMOR).
/FTId=VAR_005879.
VARIANT   137   137        L -> Q (IN A LIVER TUMOR).
/FTId=VAR_005880.
VARIANT   138   138        A -> P (IN A LUNG TUMOR).
/FTId=VAR_005881.
VARIANT   139   139        K -> N (IN A BREAST, AN OVARY TUMOR, A LEUKEMIA AND A LYMPHOMA).
/FTId=VAR_005882.
VARIANT   140   140        T -> Y (IN A LEUKEMIA AND A LYMPHOMA).
/FTId=VAR_005883.
VARIANT   141   141        C -> G (IN AN OVARY TUMOR).
/FTId=VAR_005884.
VARIANT   141   141        C -> F (IN A BREAST TUMOR).
/FTId=VAR_005885.
VARIANT   141   141        C -> Y (IN MANY TYPES OF TUMORS).
/FTId=VAR_005886.
VARIANT   143   143        V -> A (IN A COLON TUMOR).
/FTId=VAR_005887.
VARIANT   144   144        Q -> P (IN A LEUKEMIA AND A LYMPHOMA).
/FTId=VAR_005888.
VARIANT   145   145        L -> P (IN A BRAIN TUMOR).
/FTId=VAR_005889.
VARIANT   145   145        L -> Q (IN AN ESOPHAGUS TUMOR).
/FTId=VAR_005890.
VARIANT   147   147        V -> D (IN AN OVARY TUMOR).
/FTId=VAR_005891.
VARIANT   147   147        V -> G (IN A PROSTATE TUMOR).
/FTId=VAR_005892.
VARIANT   149   149        S -> P (IN A BREAST TUMOR).
/FTId=VAR_005893.
VARIANT   151   151        P -> A (IN A BRAIN AND A COLON TUMOR).
/FTId=VAR_005894.
VARIANT   151   151        P -> S (IN MANY TYPES OF TUMORS).
/FTId=VAR_005895.
VARIANT   151   151        P -> T (IN A BREAST TUMOR).
/FTId=VAR_005896.
VARIANT   152   152        P -> L (IN AN ESOPHAGUS TUMOR).
/FTId=VAR_005897.
VARIANT   152   152        P -> S (IN OSCC).
/FTId=VAR_005898.
VARIANT   153   153        P -> T (IN A COLON TUMOR).
/FTId=VAR_005899.
VARIANT   154   154        G -> V (IN ESOPHAGUS TUMOR).
/FTId=VAR_005900.
VARIANT   155   155        T -> A (IN AN ESOPHAGUS TUMOR).
/FTId=VAR_005901.
VARIANT   156   156        R -> P (IN AN OSTEOSARCOMA CELL LINE).
/FTId=VAR_005902.
VARIANT   157   157        V -> D (IN A LIVER TUMOR).
/FTId=VAR_005903.
VARIANT   157   157        V -> I (IN COLORECTAL CARCINOMA FROM A PATIENT WITH TURCOT SYNDROME).
/FTId=VAR_012977.
VARIANT   157   157        V -> S (IN A S.AFRICAN HEPATOCELLULAR CARCINOMA).
/FTId=VAR_005904.
VARIANT   158   158        R -> C (IN A NONINVASIVE HEAD AND NECK TUMOR).
/FTId=VAR_005905.
VARIANT   158   158        R -> G (IN A BRAIN AND A LUNG TUMOR).
/FTId=VAR_005906.
VARIANT   158   158        R -> H (IN A MANY TYPES OF TUMORS).
/FTId=VAR_005907.
VARIANT   160   160        M -> I (IN A LUNG AND A SKIN TUMOR).
/FTId=VAR_005908.
VARIANT   161   161        A -> S (IN A BRAIN TUMOR).
/FTId=VAR_005909.
VARIANT   162   162        I -> S (IN A BRAIN TUMOR).
/FTId=VAR_005910.
VARIANT   162   162        I -> V (IN AN OVARY TUMOR).
/FTId=VAR_005911.
VARIANT   163   163        Y -> H (IN HNSC).
/FTId=VAR_005912.
VARIANT   164   164        K -> N (IN A LUNG TUMOR).
/FTId=VAR_005913.
VARIANT   164   164        K -> Q (IN A BREAST TUMOR).
/FTId=VAR_005914.
VARIANT   165   165        Q -> L (IN A BREAST TUMOR).
/FTId=VAR_005915.
VARIANT   165   165        Q -> R (IN AN OVARY TUMOR).
/FTId=VAR_005916.
VARIANT   166   166        S -> L (IN A LUNG TUMOR).
/FTId=VAR_005917.
VARIANT   168   168        H -> R (IN A BRAIN TUMOR).
/FTId=VAR_005918.
VARIANT   169   169        M -> I (IN OSCC).
/FTId=VAR_005919.
VARIANT   169   169        M -> T (IN A NONINVASIVE HEAD AND NECK TUMOR).
/FTId=VAR_005920.
VARIANT   170   170        T -> M (IN A COLON TUMOR).
/FTId=VAR_005921.
VARIANT   170   170        T -> S (IN A COLON TUMOR).
/FTId=VAR_005922.
VARIANT   172   172        V -> A (IN A PROSTATE TUMOR).
/FTId=VAR_005923.
VARIANT   173   173        V -> E (IN A COLON TUMOR).
/FTId=VAR_005924.
VARIANT   173   173        V -> L (IN A CERVICAL CARCINOMA).
/FTId=VAR_005925.
VARIANT   173   173        V -> M (IN A COLON TUMOR).
/FTId=VAR_005926.
VARIANT   174   174        R -> H (IN THE CELL LINE DETROIT 562 OF SQUAMOUS CELL CARCINOMA).
/FTId=VAR_005927.
VARIANT   175   175        R -> C (IN A COLON AND AN UTERUS TUMOR).
/FTId=VAR_005928.
VARIANT   175   175        R -> G (IN A BRAIN TUMOR).
/FTId=VAR_005929.
VARIANT   175   175        R -> L (IN A BREAST AND A COLON TUMOR).
/FTId=VAR_005930.
VARIANT   175   175        R -> P (IN A CERVICAL CARCINOMA).
/FTId=VAR_005931.
VARIANT   175   175        R -> H (IN LFS, COLON/ESOPHAGUS/GASTRIC TUMORS).
/FTId=VAR_005932.
VARIANT   176   176        C -> F (IN BA AND MANY TYPES OF TUMORS).
/FTId=VAR_005933.
VARIANT   176   176        C -> W (IN A LUNG TUMOR).
/FTId=VAR_005934.
VARIANT   177   177        P -> L (IN A SKIN TUMOR).
/FTId=VAR_005935.
VARIANT   178   178        H -> HPHP (IN A BURKITT'S LYMPHOMA).
/FTId=VAR_005936.
VARIANT   181   181        R -> L (IN A CERVICAL CARCINOMA).
/FTId=VAR_005937.
VARIANT   182   182        C -> S (IN A STOMACH TUMOR).
/FTId=VAR_005938.
VARIANT   184   184        D -> Y (IN A LEUKEMIA AND A LYMPHOMA).
/FTId=VAR_005939.
VARIANT   186   186        D -> Y (IN A BREAST TUMOR).
/FTId=VAR_005940.
VARIANT   187   187        G -> C (IN A BREAST TUMOR).
/FTId=VAR_005941.
VARIANT   187   187        G -> S (IN A LEUKEMIA AND A LYMPHOMA).
/FTId=VAR_005942.
VARIANT   189   189        A -> P (IN AN OVARY TUMOR).
/FTId=VAR_005943.
VARIANT   190   190        P -> L (IN A COLORECTAL TUMOR).
/FTId=VAR_005944.
VARIANT   191   191        P -> T (IN A COLON TUMOR).
/FTId=VAR_005945.
VARIANT   192   192        Q -> R (IN A COLON TUMOR).
/FTId=VAR_005946.
VARIANT   193   193        H -> D (IN AN UTERUS TUMOR).
/FTId=VAR_005947.
VARIANT   193   193        H -> R (IN LFS).
/FTId=VAR_005948.
VARIANT   194   194        L -> P (IN A COLON TUMOR).
/FTId=VAR_005949.
VARIANT   194   194        L -> R (IN THE CELL LINE HU 281 OF SQUAMOUS CELL CARCINOMA).
/FTId=VAR_005950.
VARIANT   195   195        I -> T (IN OSCC).
/FTId=VAR_005951.
VARIANT   198   198        E -> K (IN HNSC).
/FTId=VAR_005952.
VARIANT   205   205        Y -> C (IN OSCC).
/FTId=VAR_005953.
VARIANT   205   205        Y -> D (IN HNSC).
/FTId=VAR_005954.
VARIANT   213   213        R -> Q (IN A BURKITT'S LYMPHOMA AND A COLORECTAL TUMOR).
/FTId=VAR_005955.
VARIANT   216   216        V -> M (IN HNSC).
/FTId=VAR_005956.
VARIANT   220   220        Y -> C (IN OSCC).
/FTId=VAR_005957.
VARIANT   220   220        Y -> H (IN A COLON TUMOR).
/FTId=VAR_005958.
VARIANT   220   220        Y -> S (IN HNSC).
/FTId=VAR_005959.
VARIANT   228   228        D -> E (IN HNSC).
/FTId=VAR_005960.
VARIANT   230   230        T -> I (IN OSCC).
/FTId=VAR_005961.
VARIANT   232   232        I -> T (IN AN ANAL TUMOR).
/FTId=VAR_005962.
VARIANT   234   234        Y -> C (IN HNSC).
/FTId=VAR_005963.
VARIANT   234   234        Y -> H (IN A BURKITT'S LYMPHOMA).
/FTId=VAR_005964.
VARIANT   237   237        M -> I (IN A COLON TUMOR).
/FTId=VAR_005965.
VARIANT   238   238        C -> F (IN AN ANAL TUMOR).
/FTId=VAR_005966.
VARIANT   238   238        C -> Y (IN A COLORECTAL TUMOR).
/FTId=VAR_005967.
VARIANT   240   240        S -> I (IN AN ANAL TUMOR).
/FTId=VAR_005968.
VARIANT   241   241        S -> F (IN A COLON TUMOR).
/FTId=VAR_005969.
VARIANT   242   242        C -> F (IN A SKIN TUMOR).
/FTId=VAR_005970.
VARIANT   245   245        G -> A (IN A RENAL TUMOR).
/FTId=VAR_005971.
VARIANT   245   245        G -> C (IN LFS; IN OSTEOSARCOMA; COLON AND LARYNX TUMORS).
/FTId=VAR_005972.
VARIANT   245   245        G -> D (IN LFS AND IN A COLON TUMOR).
/FTId=VAR_005973.
VARIANT   245   245        G -> S (IN BA AND MANY TYPES OF TUMORS).
/FTId=VAR_005974.
VARIANT   245   245        G -> V (IN HNSC).
/FTId=VAR_005975.
VARIANT   246   246        M -> R (IN A LIVER TUMOR).
/FTId=VAR_005976.
VARIANT   246   246        M -> T (IN A LEUKEMIA AND A LYMPHOMA).
/FTId=VAR_005977.
VARIANT   246   246        M -> V (IN A MANY TYPES OF TUMORS).
/FTId=VAR_005978.
VARIANT   247   247        N -> W (IN A SKIN TUMOR).
/FTId=VAR_005979.
VARIANT   247   247        N -> I (IN A LUNG TUMOR).
/FTId=VAR_005980.
VARIANT   248   248        R -> G (IN AN ENDOCRINE TUMOR).
/FTId=VAR_005981.
VARIANT   248   248        R -> L (IN HYPOPHARYNX; LARYNX AND TONSIL TUMORS).
/FTId=VAR_005982.
VARIANT   248   248        R -> Q (IN LFS AND IN MANY TYPES OF TUMORS).
/FTId=VAR_005983.
VARIANT   248   248        R -> W (IN LFS, BA AND IN MANY TYPES OF TUMORS).
/FTId=VAR_005984.
VARIANT   249   249        R -> G (IN A BREAST TUMOR).
/FTId=VAR_005985.
VARIANT   249   249        R -> S (IN MANY TYPES OF TUMORS).
/FTId=VAR_005986.
VARIANT   251   251        I -> N (IN HNSC).
/FTId=VAR_005987.
VARIANT   252   252        L -> P (IN LFS AND IN MANY TYPES OF TUMORS).
/FTId=VAR_005988.
VARIANT   257   257        L -> P (IN HNSC).
/FTId=VAR_005989.
VARIANT   258   258        E -> D (IN A COLORECTAL TUMOR).
/FTId=VAR_005990.
VARIANT   258   258        E -> K (IN LFS AND IN BREAST CANCER CELLS).
/FTId=VAR_005991.
VARIANT   272   272        V -> L (IN LFS).
/FTId=VAR_005992.
VARIANT   273   273        R -> C (IN LFS; IN COLORECTAL TUMOR AND OSCC).
/FTId=VAR_005993.
VARIANT   273   273        R -> G (IN HNSC).
/FTId=VAR_005994.
VARIANT   273   273        R -> H (IN LFS, COLON AND ESOPHAGUS TUMORS).
/FTId=VAR_005995.
VARIANT   274   274        V -> F (IN A COLORECTAL TUMOR).
/FTId=VAR_005997.
VARIANT   275   275        C -> Y (IN LFS, A BRAIN, A LUNG, A RENAL, A STOMACH TUMOR).
/FTId=VAR_005998.
VARIANT   275   275        C -> W (IN A BREAST AND A STOMACH TUMOR).
/FTId=VAR_005999.
VARIANT   277   277        C -> G (IN A LUNG TUMOR).
/FTId=VAR_006000.
VARIANT   278   278        P -> A (IN A BREAST TUMOR).
/FTId=VAR_006001.
VARIANT   278   278        P -> H (IN A LEUKEMIA AND A LYMPHOMA).
/FTId=VAR_006002.
VARIANT   278   278        P -> L (IN AN ESOPHAGUS AND A LUNG TUMOR).
/FTId=VAR_006003.
VARIANT   278   278        P -> S (IN OSCC).
/FTId=VAR_006004.
VARIANT   278   278        P -> T (IN HNSC; SAME PATIENT AS MUTATION HIS-281).
/FTId=VAR_006005.
VARIANT   279   279        G -> E (IN A COLORECTAL TUMOR).
/FTId=VAR_006006.
VARIANT   280   280        R -> K (IN A BREAST TUMOR).
/FTId=VAR_006007.
VARIANT   280   280        R -> I (IN A COLORECTAL TUMOR).
/FTId=VAR_006008.
VARIANT   280   280        R -> T (IN NASOPHARYNGEAL CARCINOMA).
/FTId=VAR_006009.
VARIANT   281   281        D -> A (IN A LEUKEMIA AND A LYMPHOMA).
/FTId=VAR_006010.
VARIANT   281   281        D -> E (IN MANY TYPES OF TUMORS).
/FTId=VAR_006011.
VARIANT   281   281        D -> G (IN MANY TYPES OF TUMORS).
/FTId=VAR_006012.
VARIANT   281   281        D -> H (IN HNSC; SAME PATIENT AS MUTATION THR-278).
/FTId=VAR_006013.
VARIANT   281   281        D -> V (IN A COLORECTAL TUMOR).
/FTId=VAR_006014.
VARIANT   282   282        R -> L (IN A BREAST TUMOR).
/FTId=VAR_006015.
VARIANT   282   282        R -> W (IN BA AND MANY TYPES OF TUMORS).
/FTId=VAR_006016.
VARIANT   283   283        R -> C (IN A COLON TUMOR).
/FTId=VAR_006017.
VARIANT   283   283        R -> G (IN A LUNG TUMOR).
/FTId=VAR_006018.
VARIANT   283   283        R -> H (IN A COLON TUMOR).
/FTId=VAR_006019.
VARIANT   283   283        R -> P (IN A BREAST AND A LUNG TUMOR).
/FTId=VAR_006020.
VARIANT   284   284        T -> A (IN A COLORECTAL TUMOR).
/FTId=VAR_006021.
VARIANT   284   284        T -> P (IN A LUNG TUMOR).
/FTId=VAR_006022.
VARIANT   285   285        E -> K (IN MANY TYPES OF TUMORS).
/FTId=VAR_006023.
VARIANT   285   285        E -> Q (IN AN UTERUS TUMOR).
/FTId=VAR_006024.
VARIANT   285   285        E -> V (IN A LIVER TUMOR).
/FTId=VAR_006025.
VARIANT   286   286        E -> A (IN LFS).
/FTId=VAR_006026.
VARIANT   286   286        E -> D (IN A LIVER TUMOR).
/FTId=VAR_006027.
VARIANT   286   286        E -> G (IN A COLON, A LUNG, A HEAD AND A NECK TUMOR).
/FTId=VAR_006028.
VARIANT   286   286        E -> K (IN MANY TYPES OF TUMORS).
/FTId=VAR_006029.
VARIANT   286   286        E -> Q (IN BA).
/FTId=VAR_006030.
VARIANT   296   296        H -> P (IN HNSC).
/FTId=VAR_006031.
VARIANT   300   300        P -> R (IN A SKIN TUMOR).
/FTId=VAR_006032.
VARIANT   301   301        P -> L (IN A COLON TUMOR).
/FTId=VAR_006033.
VARIANT   302   302        G -> E (IN A COLON TUMOR).
/FTId=VAR_006034.
VARIANT   302   302        G -> V (IN A COLON TUMOR).
/FTId=VAR_006035.
VARIANT   306   306        R -> Q (IN A SARCOMA).
/FTId=VAR_006036.
VARIANT   307   307        A -> T (IN A BREAST TUMOR).
/FTId=VAR_006037.
VARIANT   309   309        P -> S (IN A COLON TUMOR).
/FTId=VAR_006038.
VARIANT   325   325        G -> V (IN LFS).
/FTId=VAR_006039.
VARIANT   334   334        G -> V (IN A LUNG TUMOR).
/FTId=VAR_006040.
VARIANT   337   337        R -> C (IN A LIVER TUMOR AND NONCLASSICAL LFS).
/FTId=VAR_006041.
MUTAGEN   135   135        C->Y: DECREASED E6-MEDIATED BINDING TO E6-AP.
STRAND   103   103  1     
HELIX   105   107  3     
TURN   108   108  1     
STRAND   110   112  3     
TURN   120   121  2     
STRAND   124   127  4     
TURN   128   131  4     
STRAND   132   135  4     
TURN   137   138  2     
STRAND   141   146  6     
TURN   153   154  2     
STRAND   156   163  8     
TURN   166   170  5     
HELIX   177   181  5     
TURN   191   192  2     
STRAND   195   197  3     
TURN   201   202  2     
STRAND   204   207  4     
TURN   209   211  3     
STRAND   214   219  6     
TURN   225   226  2     
STRAND   230   236  7     
TURN   240   241  2     
TURN   243   248  6     
STRAND   251   258  8     
TURN   260   261  2     
STRAND   264   274  11     
HELIX   278   286  9     
HELIX   335   354  20     
FT aligner logo Feature aligner
SEVIEWER logo Feature table viewer
Sequence information
Length: 393 AA Molecular weight: 43653 Da CRC64: AD5C149FD8106131 [This is a checksum on the sequence]
        10         20         30         40         50         60 
         |          |          |          |          |          | 
MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP 

        70         80         90        100        110        120 
         |          |          |          |          |          | 
DEAPRMPEAA PPVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK 

       130        140        150        160        170        180 
         |          |          |          |          |          | 
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE 

       190        200        210        220        230        240 
         |          |          |          |          |          | 
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS 

       250        260        270        280        290        300 
         |          |          |          |          |          | 
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP 

       310        320        330        340        350        360 
         |          |          |          |          |          | 
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QIRGRERFEM FRELNEALEL KDAQAGKEPG 

       370        380        390 
         |          |          | 
GSRAHSSHLK SKKGQSTSRH KKLMFKTEGP DSD 

P04637 in FASTA format

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