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
//