LOCUS AAB59465.1 928 aa PRT HUM 05-MAY-1995 DEFINITION Homo sapiens retinoblastoma suspectibility protein protein. ACCESSION L41870-1 PROTEIN_ID AAB59465.1 SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (sites) AUTHORS McGee,T.L., Yandell,D.W. and Dryja,T.P. TITLE Structure and partial genomic sequence of the human retinoblastoma susceptibility gene JOURNAL Gene 80 (1), 119-128 (1989) PUBMED 2701949 REFERENCE 2 (sites) AUTHORS Hogg,A., Onadim,Z., Baird,P.N. and Cowell,J.K. TITLE Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing JOURNAL Oncogene 7 (7), 1445-1451 (1992) PUBMED 1352398 REFERENCE 3 (sites) AUTHORS Onadim,Z., Hogg,A., Baird,P.N. and Cowell,J.K. TITLE Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (13), 6177-6181 (1992) PUBMED 1352883 REFERENCE 4 (sites) AUTHORS Onadim,Z., Hogg,A. and Cowell,J.K. TITLE Mechanisms of oncogenesis in patients with familial retinoblastoma JOURNAL Br. J. Cancer 68 (5), 958-964 (1993) PUBMED 8217609 REFERENCE 5 (sites) AUTHORS Hogg,A., Bia,B., Onadim,Z. and Cowell,J.K. TITLE Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma JOURNAL Proc. Natl. Acad. Sci. U.S.A. 90 (15), 7351-7355 (1993) PUBMED 8346255 REFERENCE 6 (sites) AUTHORS Kratzke,R.A., Otterson,G.A., Hogg,A., Coxon,A.B., Geradts,J., Cowell,J.K. and Kaye,F.J. TITLE Partial inactivation of the RB product in a family with incomplete penetrance of familial retinoblastoma and benign retinal tumors JOURNAL Oncogene 9 (5), 1321-1326 (1994) PUBMED 8152792 COMMENT Original source text: Homo sapiens cDNA to mRNA. Mutation data provided by Dr. B.L.Gallie, Hospital for Sick Children 555 Univ. Ave. Toronto ONT W5G 1X8 Canada Ph: 416 813-5868 FAX: 416 813-4989 E-mail: brenda@hafiz.eric.on.ca. FEATURES Qualifiers source /db_xref="H-InvDB:HIT000193791" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /map="13q14.2" protein /gene="RB1" /db_xref="GDB:G00-118-734" BEGIN 1 MPPKTPRKTA ATAAAAAAEP PAPPPPPPPE EDPEQDSGPE DLPLVRLEFE ETEEPDFTAL 61 CQKLKIPDHV RERAWLTWEK VSSVDGVLGG YIQKKKELWG ICIFIAAVDL DEMSFTFTEL 121 QKNIEISVHK FFNLLKEIDT STKVDNAMSR LLKKYDVLFA LFSKLERTCE LIYLTQPSSS 181 ISTEINSALV LKVSWITFLL AKGEVLQMED DLVISFQLML CVLDYFIKLS PPMLLKEPYK 241 TAVIPINGSP RTPRRGQNRS ARIAKQLEND TRIIEVLCKE HECNIDEVKN VYFKNFIPFM 301 NSLGLVTSNG LPEVENLSKR YEEIYLKNKD LDARLFLDHD KTLQTDSIDS FETQRTPRKS 361 NLDEEVNVIP PHTPVRTVMN TIQQLMMILN SASDQPSENL ISYFNNCTVN PKESILKRVK 421 DIGYIFKEKF AKAVGQGCVE IGSQRYKLGV RLYYRVMESM LKSEEERLSI QNFSKLLNDN 481 IFHMSLLACA LEVVMATYSR STSQNLDSGT DLSFPWILNV LNLKAFDFYK VIESFIKAEG 541 NLTREMIKHL ERCEHRIMES LAWLSDSPLF DLIKQSKDRE GPTDHLESAC PLNLPLQNNH 601 TAADMYLSPV RSPKKKGSTT RVNSTANAET QATSAFQTQK PLKSTSLSLF YKKVYRLAYL 661 RLNTLCERLL SEHPELEHII WTLFQHTLQN EYELMRDRHL DQIMMCSMYG ICKVKNIDLK 721 FKIIVTAYKD LPHAVQETFK RVLIKEEEYD SIIVFYNSVF MQRLKTNILQ YASTRPPTLS 781 PIPHIPRSPY KFPSSPLRIP GGNIYISPLK SPYKISEGLP TPTKMTPRSR ILVSIGESFG 841 TSEKFQKINQ MVCNSDRVLK RSAEGSNPPK PLKKLRFDIE GSDEADGSKH LPGESKFQQK 901 LAEMTSTRTR MQKQKMNDSM DTSNKEEK //