2024-04-20 19:47:40, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_007294 7224 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA. ACCESSION NM_007294 VERSION NM_007294.3 GI:237757283 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 7224) AUTHORS Orban,T.I. and Olah,E. TITLE Emerging roles of BRCA1 alternative splicing JOURNAL MP, Mol. Pathol. 56 (4), 191-197 (2003) PUBMED 12890739 REMARK Review article REFERENCE 2 (bases 1 to 7224) AUTHORS Orban,T.I. and Olah,E. TITLE Expression profiles of BRCA1 splice variants in asynchronous and in G1/S synchronized tumor cell lines JOURNAL Biochem. Biophys. Res. Commun. 280 (1), 32-38 (2001) PUBMED 11162473 REFERENCE 3 (bases 1 to 7224) AUTHORS Paterson,J.W. TITLE BRCA1: a review of structure and putative functions JOURNAL Dis. Markers 13 (4), 261-274 (1998) PUBMED 9553742 REMARK Review article REFERENCE 4 (bases 1 to 7224) AUTHORS Xu,C.F., Chambers,J.A., Nicolai,H., Brown,M.A., Hujeirat,Y., Mohammed,S., Hodgson,S., Kelsell,D.P., Spurr,N.K., Bishop,D.T. and Solomon,E. TITLE Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families JOURNAL Genes Chromosomes Cancer 18 (2), 102-110 (1997) PUBMED 9115959 REFERENCE 5 (bases 1 to 7224) AUTHORS Wilson,C.A., Payton,M.N., Elliott,G.S., Buaas,F.W., Cajulis,E.E., Grosshans,D., Ramos,L., Reese,D.M., Slamon,D.J. and Calzone,F.J. TITLE Differential subcellular localization, expression and biological toxicity of BRCA1 and the splice variant BRCA1-delta11b JOURNAL Oncogene 14 (1), 1-16 (1997) PUBMED 9010228 REFERENCE 6 (bases 1 to 7224) AUTHORS Thakur,S., Zhang,H.B., Peng,Y., Le,H., Carroll,B., Ward,T., Yao,J., Farid,L.M., Couch,F.J., Wilson,R.B. and Weber,B.L. TITLE Localization of BRCA1 and a splice variant identifies the nuclear localization signal JOURNAL Mol. Cell. Biol. 17 (1), 444-452 (1997) PUBMED 8972225 REFERENCE 7 (bases 1 to 7224) AUTHORS Lu,M., Conzen,S.D., Cole,C.N. and Arrick,B.A. TITLE Characterization of functional messenger RNA splice variants of BRCA1 expressed in nonmalignant and tumor-derived breast cells JOURNAL Cancer Res. 56 (20), 4578-4581 (1996) PUBMED 8840964 REFERENCE 8 (bases 1 to 7224) AUTHORS Holt,J.T., Thompson,M.E., Szabo,C., Robinson-Benion,C., Arteaga,C.L., King,M.C. and Jensen,R.A. TITLE Growth retardation and tumour inhibition by BRCA1 JOURNAL Nat. Genet. 12 (3), 298-302 (1996) PUBMED 8589721 REMARK Erratum:[Nat Genet 1998 May;19(1):102] REFERENCE 9 (bases 1 to 7224) AUTHORS Xu,C.F., Brown,M.A., Chambers,J.A., Griffiths,B., Nicolai,H. and Solomon,E. TITLE Distinct transcription start sites generate two forms of BRCA1 mRNA JOURNAL Hum. Mol. Genet. 4 (12), 2259-2264 (1995) PUBMED 8634696 REFERENCE 10 (bases 1 to 7224) AUTHORS Miki,Y., Swensen,J., Shattuck-Eidens,D., Futreal,P.A., Harshman,K., Tavtigian,S., Liu,Q., Cochran,C., Bennett,L.M., Ding,W. et al. TITLE A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 JOURNAL Science 266 (5182), 66-71 (1994) PUBMED 7545954 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL701927.1, U14680.1, BC072418.1, BU617173.1 and BU679389.1. This sequence is a reference standard in the RefSeqGene project. On May 19, 2009 this sequence version replaced gi:63252871. Summary: This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]. Transcript Variant: This variant (1, also known as BRCA1a) represents the more frequently occurring transcript. It encodes the full-length BRCA1 protein (isoform 1), which is also known as p220. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U14680.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: full length. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-143 AL701927.1 1-143 144-5824 U14680.1 31-5711 5825-6573 BC072418.1 2401-3149 6574-7205 BU617173.1 19-650 c 7206-7224 BU679389.1 1-19 c FEATURES Location/Qualifiers source 1..7224 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q21" gene 1..7224 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /note="breast cancer 1, early onset" /db_xref="GeneID:672" /db_xref="HGNC:1100" /db_xref="HPRD:00218" /db_xref="MIM:113705" exon 1..213 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" variation 87 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="" /replace="t" /db_xref="dbSNP:8176075" misc_feature 93 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /note="alternative transcription start site" STS 184..1651 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /db_xref="UniSTS:482866" misc_feature 209..211 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /note="upstream in-frame stop codon" exon 214..312 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" CDS 233..5824 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /note="isoform 1 is encoded by transcript variant 1; BRCA1/BRCA2-containing complex, subunit 1; RING finger protein 53; breast cancer type 1 susceptibility protein; breast and ovarian cancer susceptibility protein 1; protein phosphatase 1, regulatory subunit 53; breast and ovarian cancer sususceptibility protein 1" /codon_start=1 /product="breast cancer type 1 susceptibility protein isoform 1" /protein_id="NP_009225.1" /db_xref="GI:6552299" /db_xref="CCDS:CCDS11453.1" /db_xref="GeneID:672" /db_xref="HGNC:1100" /db_xref="HPRD:00218" /db_xref="MIM:113705" /translation="
MDLSALRVEEVQNVINAMQKILECPICLELIKEPVSTKCDHIFCKFCMLKLLNQKKGPSQCPLCKNDITKRSLQESTRFSQLVEELLKIICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVSIIQSMGYRNRAKRLLQSEPENPSLQETSLSVQLSNLGTVRTLRTKQRIQPQKTSVYIELGSDSSEDTVNKATYCSVGDQELLQITPQGTRDEISLDSAKKAACEFSETDVTNTEHHQPSNNDLNTTEKRAAERHPEKYQGSSVSNLHVEPCGTNTHASSLQHENSSLLLTKDRMNVEKAEFCNKSKQPGLARSQHNRWAGSKETCNDRRTPSTEKKVDLNADPLCERKEWNKQKLPCSENPRDTEDVPWITLNSSIQKVNEWFSRSDELLGSDDSHDGESESNAKVADVLDVLNEVDEYSGSSEKIDLLASDPHEALICKSERVHSKSVESNIEDKIFGKTYRKKASLPNLSHVTENLIIGAFVTEPQIIQERPLTNKLKRKRRPTSGLHPEDFIKKADLAVQKTPEMINQGTNQTEQNGQVMNITNSGHENKTKGDSIQNEKNPNPIESLEKESAFKTKAEPISSSISNMELELNIHNSKAPKKNRLRRKSSTRHIHALELVVSRNLSPPNCTELQIDSCSSSEEIKKKKYNQMPVRHSRNLQLMEGKEPATGAKKSNKPNEQTSKRHDSDTFPELKLTNAPGSFTKCSNTSELKEFVNPSLPREEKEEKLETVKVSNNAEDPKDLMLSGERVLQTERSVESSSISLVPGTDYGTQESISLLEVSTLGKAKTEPNKCVSQCAAFENPKGLIHGCSKDNRNDTEGFKYPLGHEVNHSRETSIEMEESELDAQYLQNTFKVSKRQSFAPFSNPGNAEEECATFSAHSGSLKKQSPKVTFECEQKEENQGKNESNIKPVQTVNITAGFPVVGQKDKPVDNAKCSIKGGSRFCLSSQFRGNETGLITPNKHGLLQNPYRIPPLFPIKSFVKTKCKKNLLEENFEEHSMSPEREMGNENIPSTVSTISRNNIRENVFKEASSSNINEVGSSTNEVGSSINEIGSSDENIQAELGRNRGPKLNAMLRLGVLQPEVYKQSLPGSNCKHPEIKKQEYEEVVQTVNTDFSPYLISDNLEQPMGSSHASQVCSETPDDLLDDGEIKEDTSFAENDIKESSAVFSKSVQKGELSRSPSPFTHTHLAQGYRRGAKKLESSEENLSSEDEELPCFQHLLFGKVNNIPSQSTRHSTVATECLSKNTEENLLSLKNSLNDCSNQVILAKASQEHHLSEETKCSASLFSSQCSELEDLTANTNTQDPFLIGSSKQMRHQSESQGVGLSDKELVSDDEERGTGLEENNQEEQSMDSNLGEAASGCESETSVSEDCSGLSSQSDILTTQQRDTMQHNLIKLQQEMAELEAVLEQHGSQPSNSYPSIISDSSALEDLRNPEQSTSEKAVLTSQKSSEYPISQNPEGLSADKFEVSADSSTSKNKEPGVERSSPSKCPSLDDRWYMHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEGTPYLESGISLFSDDPESDPSEDRAPESARVGNIPSSTSALKVPQLKVAESAQSPAAAHTTDTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGLTPEEFMLVYKFARKHHITLTNLITEETTHVVMKTDAEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKERKMLNEHDFEVRGDVVNGRNHQGPKRARESQDRKIFRGLEICCYGPFTNMPTDQLEWMVQLCGASVVKELSSFTLGTGVHPIVVVQPDAWTEDNGFHAIGQMCEAPVVTREWVLDSVALYQCQELDTYLIPQIPHSHY
" misc_feature 290..427 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /note="Zinc finger, C3HC4 type (RING finger); Region: zf-C3HC4_2; pfam13923" /db_xref="CDD:206094" misc_feature 299..436 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /note="RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in...; Region: RING; cd00162" /db_xref="CDD:29102" misc_feature order(302..304,311..313,347..349,353..355,362..364, 371..373,413..415,422..424) /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /note="cross-brace motif; other site" /db_xref="CDD:29102" misc_feature 572..574 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 1154..1156 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine, by AURKA; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 1154..1156 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:04066" misc_feature 1262..1753 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /note="Serine-rich domain associated with BRCT; Region: BRCT_assoc; pfam12820" /db_xref="CDD:193295" misc_feature 1415..1417 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 1424..1426 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 1499..1501 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 1757..1759 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:01261" misc_feature 2195..3166 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /note="Ethylene insensitive 3; Region: EIN3; pfam04873" /db_xref="CDD:191117" misc_feature 2312..2314 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 2489..2491 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 3194..3196 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine, by CHEK2; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 3194..3196 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:05084" misc_feature 3659..3661 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine, by ATR, in vitro; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 3659..3661 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:08369" misc_feature 3695..3697 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:02799" misc_feature 3797..3799 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:06347" misc_feature 3863..3865 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 3863..3865 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 3866..3868 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 3881..3883 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 3881..3883 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 3884..3886 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 3884..3886 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 3947..3949 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 3965..3967 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 4070..4072 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine, by ATR, in vitro; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 4070..4072 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:08369" misc_feature 4214..4216 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 4220..4222 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:06347" misc_feature 4238..4240 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 4238..4240 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 4256..4258 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 4256..4258 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 4391..4393 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine, by ATM and ATR; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 4391..4393 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:06347" misc_feature 4391..4393 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:08369" misc_feature 4412..4414 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphothreonine, by ATR, in vitro; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 4412..4414 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:08369" misc_feature 4421..4504 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P38398.2); Region: Interaction with PALB2" misc_feature 4499..4501 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine, by ATM and ATR; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 4499..4501 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:06347" misc_feature 4499..4501 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:08369" misc_feature 4601..4603 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine, by ATR, in vitro; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 4601..4603 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:06347" misc_feature 4601..4603 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:08369" misc_feature 4628..4630 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:06347" misc_feature 4721..4723 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:00310" misc_feature 4727..4729 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 4802..4804 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine, by ATM; propagated from UniProtKB/Swiss-Prot (P38398.2); phosphorylation site" misc_feature 4802..4804 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:06347" misc_feature 4802..4804 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:08369" misc_feature 4856..4858 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:06347" misc_feature 4946..4948 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:00277" misc_feature 5330..5332 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 5390..5392 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 5519..5758 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /note="Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo...; Region: BRCT; cd00027" /db_xref="CDD:28909" misc_feature order(5564..5566,5576..5578,5585..5587,5594..5596, 5600..5602) /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /note="Dimer interface [polypeptide binding]; other site" /db_xref="CDD:28909" misc_feature order(5741..5743,5753..5755) /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /note="BRCT sequence motif; other site" /db_xref="CDD:28909" exon 313..366 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" exon 367..444 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" exon 445..533 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" exon 534..673 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" exon 674..779 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" variation 686 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="c" /replace="t" /db_xref="dbSNP:41286288" variation 710 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:62625285" variation 760 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:34545365" exon 780..825 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" exon 826..902 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" exon 903..4328 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" STS 909..1077 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454227" /db_xref="UniSTS:157424" variation 925 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:62625298" variation 949 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="g" /replace="t" /db_xref="dbSNP:56310439" STS 996..1234 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454278" /db_xref="UniSTS:157425" variation 997 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:62625299" variation 1154 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:55767801" STS 1159..1436 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454349" /db_xref="UniSTS:157426" variation 1201 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="t" /db_xref="dbSNP:45586033" variation 1247 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:55842957" STS 1299..1543 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454353" /db_xref="UniSTS:157427" STS 1465..1730 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454372" /db_xref="UniSTS:157428" STS 1685..1947 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454381" /db_xref="UniSTS:157429" variation 1773 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="c" /replace="g" /db_xref="dbSNP:56100707" STS 1844..2087 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454417" /db_xref="UniSTS:157430" variation 1963 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:28897678" STS 2031..2329 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454421" /db_xref="UniSTS:157431" variation 2081 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:45564238" variation 2110 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:8176154" variation 2204 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:55932871" STS 2255..2510 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454425" /db_xref="UniSTS:157432" STS 2394..2617 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454429" /db_xref="UniSTS:157433" STS 2561..2830 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454433" /db_xref="UniSTS:157434" variation 2721..2722 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="" /replace="aa" /db_xref="dbSNP:273899685" STS 2748..3061 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454437" /db_xref="UniSTS:157435" variation 2757 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:28897684" variation 2763 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:56051266" STS 2774..3016 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="PMC13918P1" /db_xref="UniSTS:270877" STS 3013..3318 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454441" /db_xref="UniSTS:157436" variation 3198 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="c" /replace="t" /db_xref="dbSNP:4986848" STS 3284..3661 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454446" /db_xref="UniSTS:157437" variation 3443 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:41293445" STS 3526..3850 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454450" /db_xref="UniSTS:157438" variation 3548 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="c" /replace="t" /db_xref="dbSNP:45599040" STS 3796..4084 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="BRCA1" /db_xref="UniSTS:262743" STS 3799..4072 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454454" /db_xref="UniSTS:157439" STS 3808..4067 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="PMC310899P3" /db_xref="UniSTS:272805" variation 3816 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:28897685" STS 3901..4196 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="G60034" /db_xref="UniSTS:137300" STS 3909..4067 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="PMC310899P2" /db_xref="UniSTS:272804" STS 3973..4181 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454458" /db_xref="UniSTS:157440" STS 4109..4326 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="GDB:454462" /db_xref="UniSTS:157441" variation 4225 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="c" /replace="g" /db_xref="dbSNP:70953658" exon 4329..4417 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" exon 4418..4589 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" variation 4450 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="g" /replace="t" /db_xref="dbSNP:1800707" exon 4590..4716 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" variation 4703 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="c" /db_xref="dbSNP:111034213" exon 4717..4907 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" variation 4737 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="c" /replace="t" /db_xref="dbSNP:56335406" variation 4842 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:70953659" variation 4876 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:28897692" exon 4908..5218 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" variation 4915 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="c" /replace="t" /db_xref="dbSNP:55688400" variation 5090 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:8176219" variation 5104 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="g" /replace="t" /db_xref="dbSNP:11555992" variation 5169 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="t" /db_xref="dbSNP:28897694" exon 5219..5306 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" exon 5307..5384 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" variation 5332 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:45519437" exon 5385..5425 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" variation 5389 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="g" /replace="t" /db_xref="dbSNP:28897697" exon 5426..5509 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" exon 5510..5564 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" variation 5558 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="c" /replace="t" /db_xref="dbSNP:1800757" exon 5565..5638 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" exon 5639..5699 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" variation 5665 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:4438367" exon 5700..7207 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /inference="alignment:Splign:1.39.8" variation 5703 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="t" /db_xref="dbSNP:70953662" STS 5746..5881 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="PMC310899P11" /db_xref="UniSTS:272801" variation 5803 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="g" /replace="t" /db_xref="dbSNP:28897699" variation 5866 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="t" /db_xref="dbSNP:273902777" STS 5872..6109 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="RH79896" /db_xref="UniSTS:90392" variation 6096 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:8176317" variation 6245 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="g" /replace="t" /db_xref="dbSNP:8176318" STS 6374..7203 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="BRCA1_4046" /db_xref="UniSTS:464465" STS 6554..6633 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /standard_name="D5S1597E" /db_xref="UniSTS:151019" variation 6605 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="c" /replace="t" /db_xref="dbSNP:8176319" variation 6718 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:1060920" variation 6724 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="t" /db_xref="dbSNP:1060921" variation 7111 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="c" /replace="t" /db_xref="dbSNP:12516" variation 7156 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" /replace="a" /replace="g" /db_xref="dbSNP:8176320" polyA_signal 7182..7187 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" polyA_site 7207 /gene="BRCA1" /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53" ORIGIN
gtaccttgatttcgtattctgagaggctgctgcttagcggtagccccttggtttccgtggcaacggaaaagcgcgggaattacagataaattaaaactgcgactgcgcggcgtgagctcgctgagacttcctggacgggggacaggctgtggggtttctcagataactgggcccctgcgctcaggaggccttcaccctctgctctgggtaaagttcattggaacagaaagaaatggatttatctgctcttcgcgttgaagaagtacaaaatgtcattaatgctatgcagaaaatcttagagtgtcccatctgtctggagttgatcaaggaacctgtctccacaaagtgtgaccacatattttgcaaattttgcatgctgaaacttctcaaccagaagaaagggccttcacagtgtcctttatgtaagaatgatataaccaaaaggagcctacaagaaagtacgagatttagtcaacttgttgaagagctattgaaaatcatttgtgcttttcagcttgacacaggtttggagtatgcaaacagctataattttgcaaaaaaggaaaataactctcctgaacatctaaaagatgaagtttctatcatccaaagtatgggctacagaaaccgtgccaaaagacttctacagagtgaacccgaaaatccttccttgcaggaaaccagtctcagtgtccaactctctaaccttggaactgtgagaactctgaggacaaagcagcggatacaacctcaaaagacgtctgtctacattgaattgggatctgattcttctgaagataccgttaataaggcaacttattgcagtgtgggagatcaagaattgttacaaatcacccctcaaggaaccagggatgaaatcagtttggattctgcaaaaaaggctgcttgtgaattttctgagacggatgtaacaaatactgaacatcatcaacccagtaataatgatttgaacaccactgagaagcgtgcagctgagaggcatccagaaaagtatcagggtagttctgtttcaaacttgcatgtggagccatgtggcacaaatactcatgccagctcattacagcatgagaacagcagtttattactcactaaagacagaatgaatgtagaaaaggctgaattctgtaataaaagcaaacagcctggcttagcaaggagccaacataacagatgggctggaagtaaggaaacatgtaatgataggcggactcccagcacagaaaaaaaggtagatctgaatgctgatcccctgtgtgagagaaaagaatggaataagcagaaactgccatgctcagagaatcctagagatactgaagatgttccttggataacactaaatagcagcattcagaaagttaatgagtggttttccagaagtgatgaactgttaggttctgatgactcacatgatggggagtctgaatcaaatgccaaagtagctgatgtattggacgttctaaatgaggtagatgaatattctggttcttcagagaaaatagacttactggccagtgatcctcatgaggctttaatatgtaaaagtgaaagagttcactccaaatcagtagagagtaatattgaagacaaaatatttgggaaaacctatcggaagaaggcaagcctccccaacttaagccatgtaactgaaaatctaattataggagcatttgttactgagccacagataatacaagagcgtcccctcacaaataaattaaagcgtaaaaggagacctacatcaggccttcatcctgaggattttatcaagaaagcagatttggcagttcaaaagactcctgaaatgataaatcagggaactaaccaaacggagcagaatggtcaagtgatgaatattactaatagtggtcatgagaataaaacaaaaggtgattctattcagaatgagaaaaatcctaacccaatagaatcactcgaaaaagaatctgctttcaaaacgaaagctgaacctataagcagcagtataagcaatatggaactcgaattaaatatccacaattcaaaagcacctaaaaagaataggctgaggaggaagtcttctaccaggcatattcatgcgcttgaactagtagtcagtagaaatctaagcccacctaattgtactgaattgcaaattgatagttgttctagcagtgaagagataaagaaaaaaaagtacaaccaaatgccagtcaggcacagcagaaacctacaactcatggaaggtaaagaacctgcaactggagccaagaagagtaacaagccaaatgaacagacaagtaaaagacatgacagcgatactttcccagagctgaagttaacaaatgcacctggttcttttactaagtgttcaaataccagtgaacttaaagaatttgtcaatcctagccttccaagagaagaaaaagaagagaaactagaaacagttaaagtgtctaataatgctgaagaccccaaagatctcatgttaagtggagaaagggttttgcaaactgaaagatctgtagagagtagcagtatttcattggtacctggtactgattatggcactcaggaaagtatctcgttactggaagttagcactctagggaaggcaaaaacagaaccaaataaatgtgtgagtcagtgtgcagcatttgaaaaccccaagggactaattcatggttgttccaaagataatagaaatgacacagaaggctttaagtatccattgggacatgaagttaaccacagtcgggaaacaagcatagaaatggaagaaagtgaacttgatgctcagtatttgcagaatacattcaaggtttcaaagcgccagtcatttgctccgttttcaaatccaggaaatgcagaagaggaatgtgcaacattctctgcccactctgggtccttaaagaaacaaagtccaaaagtcacttttgaatgtgaacaaaaggaagaaaatcaaggaaagaatgagtctaatatcaagcctgtacagacagttaatatcactgcaggctttcctgtggttggtcagaaagataagccagttgataatgccaaatgtagtatcaaaggaggctctaggttttgtctatcatctcagttcagaggcaacgaaactggactcattactccaaataaacatggacttttacaaaacccatatcgtataccaccactttttcccatcaagtcatttgttaaaactaaatgtaagaaaaatctgctagaggaaaactttgaggaacattcaatgtcacctgaaagagaaatgggaaatgagaacattccaagtacagtgagcacaattagccgtaataacattagagaaaatgtttttaaagaagccagctcaagcaatattaatgaagtaggttccagtactaatgaagtgggctccagtattaatgaaataggttccagtgatgaaaacattcaagcagaactaggtagaaacagagggccaaaattgaatgctatgcttagattaggggttttgcaacctgaggtctataaacaaagtcttcctggaagtaattgtaagcatcctgaaataaaaaagcaagaatatgaagaagtagttcagactgttaatacagatttctctccatatctgatttcagataacttagaacagcctatgggaagtagtcatgcatctcaggtttgttctgagacacctgatgacctgttagatgatggtgaaataaaggaagatactagttttgctgaaaatgacattaaggaaagttctgctgtttttagcaaaagcgtccagaaaggagagcttagcaggagtcctagccctttcacccatacacatttggctcagggttaccgaagaggggccaagaaattagagtcctcagaagagaacttatctagtgaggatgaagagcttccctgcttccaacacttgttatttggtaaagtaaacaatataccttctcagtctactaggcatagcaccgttgctaccgagtgtctgtctaagaacacagaggagaatttattatcattgaagaatagcttaaatgactgcagtaaccaggtaatattggcaaaggcatctcaggaacatcaccttagtgaggaaacaaaatgttctgctagcttgttttcttcacagtgcagtgaattggaagacttgactgcaaatacaaacacccaggatcctttcttgattggttcttccaaacaaatgaggcatcagtctgaaagccagggagttggtctgagtgacaaggaattggtttcagatgatgaagaaagaggaacgggcttggaagaaaataatcaagaagagcaaagcatggattcaaacttaggtgaagcagcatctgggtgtgagagtgaaacaagcgtctctgaagactgctcagggctatcctctcagagtgacattttaaccactcagcagagggataccatgcaacataacctgataaagctccagcaggaaatggctgaactagaagctgtgttagaacagcatgggagccagccttctaacagctacccttccatcataagtgactcttctgcccttgaggacctgcgaaatccagaacaaagcacatcagaaaaagcagtattaacttcacagaaaagtagtgaataccctataagccagaatccagaaggcctttctgctgacaagtttgaggtgtctgcagatagttctaccagtaaaaataaagaaccaggagtggaaaggtcatccccttctaaatgcccatcattagatgataggtggtacatgcacagttgctctgggagtcttcagaatagaaactacccatctcaagaggagctcattaaggttgttgatgtggaggagcaacagctggaagagtctgggccacacgatttgacggaaacatcttacttgccaaggcaagatctagagggaaccccttacctggaatctggaatcagcctcttctctgatgaccctgaatctgatccttctgaagacagagccccagagtcagctcgtgttggcaacataccatcttcaacctctgcattgaaagttccccaattgaaagttgcagaatctgcccagagtccagctgctgctcatactactgatactgctgggtataatgcaatggaagaaagtgtgagcagggagaagccagaattgacagcttcaacagaaagggtcaacaaaagaatgtccatggtggtgtctggcctgaccccagaagaatttatgctcgtgtacaagtttgccagaaaacaccacatcactttaactaatctaattactgaagagactactcatgttgttatgaaaacagatgctgagtttgtgtgtgaacggacactgaaatattttctaggaattgcgggaggaaaatgggtagttagctatttctgggtgacccagtctattaaagaaagaaaaatgctgaatgagcatgattttgaagtcagaggagatgtggtcaatggaagaaaccaccaaggtccaaagcgagcaagagaatcccaggacagaaagatcttcagggggctagaaatctgttgctatgggcccttcaccaacatgcccacagatcaactggaatggatggtacagctgtgtggtgcttctgtggtgaaggagctttcatcattcacccttggcacaggtgtccacccaattgtggttgtgcagccagatgcctggacagaggacaatggcttccatgcaattgggcagatgtgtgaggcacctgtggtgacccgagagtgggtgttggacagtgtagcactctaccagtgccaggagctggacacctacctgataccccagatcccccacagccactactgactgcagccagccacaggtacagagccacaggaccccaagaatgagcttacaaagtggcctttccaggccctgggagctcctctcactcttcagtccttctactgtcctggctactaaatattttatgtacatcagcctgaaaaggacttctggctatgcaagggtcccttaaagattttctgcttgaagtctcccttggaaatctgccatgagcacaaaattatggtaatttttcacctgagaagattttaaaaccatttaaacgccaccaattgagcaagatgctgattcattatttatcagccctattctttctattcaggctgttgttggcttagggctggaagcacagagtggcttggcctcaagagaatagctggtttccctaagtttacttctctaaaaccctgtgttcacaaaggcagagagtcagacccttcaatggaaggagagtgcttgggatcgattatgtgacttaaagtcagaatagtccttgggcagttctcaaatgttggagtggaacattggggaggaaattctgaggcaggtattagaaatgaaaaggaaacttgaaacctgggcatggtggctcacgcctgtaatcccagcactttgggaggccaaggtgggcagatcactggaggtcaggagttcgaaaccagcctggccaacatggtgaaaccccatctctactaaaaatacagaaattagccggtcatggtggtggacacctgtaatcccagctactcaggtggctaaggcaggagaatcacttcagcccgggaggtggaggttgcagtgagccaagatcataccacggcactccagcctgggtgacagtgagactgtggctcaaaaaaaaaaaaaaaaaaaggaaaatgaaactagaagagatttctaaaagtctgagatatatttgctagatttctaaagaatgtgttctaaaacagcagaagattttcaagaaccggtttccaaagacagtcttctaattcctcattagtaataagtaaaatgtttattgttgtagctctggtatataatccattcctcttaaaatataagacctctggcatgaatatttcatatctataaaatgacagatcccaccaggaaggaagctgttgctttctttgaggtgatttttttcctttgctccctgttgctgaaaccatacagcttcataaataattttgcttgctgaaggaagaaaaagtgtttttcataaacccattatccaggactgtttatagctgttggaaggactaggtcttccctagcccccccagtgtgcaagggcagtgaagacttgattgtacaaaatacgttttgtaaatgttgtgctgttaacactgcaaataaacttggtagcaaacacttccaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:672 -> Molecular function: GO:0003677 [DNA binding] evidence: TAS GeneID:672 -> Molecular function: GO:0003713 [transcription coactivator activity] evidence: NAS GeneID:672 -> Molecular function: GO:0003723 [RNA binding] evidence: IDA GeneID:672 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: IDA GeneID:672 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:672 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA GeneID:672 -> Molecular function: GO:0015631 [tubulin binding] evidence: NAS GeneID:672 -> Molecular function: GO:0019899 [enzyme binding] evidence: IPI GeneID:672 -> Molecular function: GO:0031625 [ubiquitin protein ligase binding] evidence: IPI GeneID:672 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: IDA GeneID:672 -> Molecular function: GO:0050681 [androgen receptor binding] evidence: NAS GeneID:672 -> Biological process: GO:0000724 [double-strand break repair via homologous recombination] evidence: IDA GeneID:672 -> Biological process: GO:0000724 [double-strand break repair via homologous recombination] evidence: TAS GeneID:672 -> Biological process: GO:0006281 [DNA repair] evidence: TAS GeneID:672 -> Biological process: GO:0006301 [postreplication repair] evidence: IDA GeneID:672 -> Biological process: GO:0006302 [double-strand break repair] evidence: IMP GeneID:672 -> Biological process: GO:0006302 [double-strand break repair] evidence: TAS GeneID:672 -> Biological process: GO:0006357 [regulation of transcription from RNA polymerase II promoter] evidence: TAS GeneID:672 -> Biological process: GO:0006359 [regulation of transcription from RNA polymerase III promoter] evidence: TAS GeneID:672 -> Biological process: GO:0006633 [fatty acid biosynthetic process] evidence: IEA GeneID:672 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:672 -> Biological process: GO:0006974 [response to DNA damage stimulus] evidence: TAS GeneID:672 -> Biological process: GO:0006978 [DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator] evidence: TAS GeneID:672 -> Biological process: GO:0007049 [cell cycle] evidence: IEA GeneID:672 -> Biological process: GO:0007059 [chromosome segregation] evidence: IMP GeneID:672 -> Biological process: GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] evidence: IDA GeneID:672 -> Biological process: GO:0010212 [response to ionizing radiation] evidence: IMP GeneID:672 -> Biological process: GO:0016567 [protein ubiquitination] evidence: IDA GeneID:672 -> Biological process: GO:0030521 [androgen receptor signaling pathway] evidence: NAS GeneID:672 -> Biological process: GO:0031398 [positive regulation of protein ubiquitination] evidence: IDA GeneID:672 -> Biological process: GO:0031572 [G2 DNA damage checkpoint] evidence: IMP GeneID:672 -> Biological process: GO:0034446 [substrate adhesion-dependent cell spreading] evidence: IDA GeneID:672 -> Biological process: GO:0035066 [positive regulation of histone acetylation] evidence: IDA GeneID:672 -> Biological process: GO:0042127 [regulation of cell proliferation] evidence: TAS GeneID:672 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS GeneID:672 -> Biological process: GO:0043627 [response to estrogen stimulus] evidence: IDA GeneID:672 -> Biological process: GO:0045717 [negative regulation of fatty acid biosynthetic process] evidence: IMP GeneID:672 -> Biological process: GO:0045739 [positive regulation of DNA repair] evidence: IMP GeneID:672 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IDA GeneID:672 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: NAS GeneID:672 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: TAS GeneID:672 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA GeneID:672 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IMP GeneID:672 -> Biological process: GO:0046600 [negative regulation of centriole replication] evidence: NAS GeneID:672 -> Biological process: GO:0051571 [positive regulation of histone H3-K4 methylation] evidence: IDA GeneID:672 -> Biological process: GO:0051573 [negative regulation of histone H3-K9 methylation] evidence: IDA GeneID:672 -> Biological process: GO:0051865 [protein autoubiquitination] evidence: IDA GeneID:672 -> Biological process: GO:0070512 [positive regulation of histone H4-K20 methylation] evidence: IDA GeneID:672 -> Biological process: GO:0071158 [positive regulation of cell cycle arrest] evidence: IDA GeneID:672 -> Biological process: GO:0071681 [cellular response to indole-3-methanol] evidence: IDA GeneID:672 -> Biological process: GO:0085020 [protein K6-linked ubiquitination] evidence: IDA GeneID:672 -> Biological process: GO:2000145 [regulation of cell motility] evidence: IDA GeneID:672 -> Biological process: GO:2000617 [positive regulation of histone H3-K9 acetylation] evidence: IDA GeneID:672 -> Biological process: GO:2000620 [positive regulation of histone H4-K16 acetylation] evidence: IDA GeneID:672 -> Cellular component: GO:0000151 [ubiquitin ligase complex] evidence: NAS GeneID:672 -> Cellular component: GO:0001726 [ruffle] evidence: IDA GeneID:672 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:672 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS GeneID:672 -> Cellular component: GO:0005694 [chromosome] evidence: ISS GeneID:672 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA GeneID:672 -> Cellular component: GO:0005925 [focal adhesion] evidence: IDA GeneID:672 -> Cellular component: GO:0008274 [gamma-tubulin ring complex] evidence: NAS GeneID:672 -> Cellular component: GO:0030529 [ribonucleoprotein complex] evidence: IDA GeneID:672 -> Cellular component: GO:0031436 [BRCA1-BARD1 complex] evidence: IDA GeneID:672 -> Cellular component: GO:0031941 [filamentous actin] evidence: IDA GeneID:672 -> Cellular component: GO:0043234 [protein complex] evidence: IDA GeneID:672 -> Cellular component: GO:0070531 [BRCA1-A complex] evidence: IDA
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