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2024-05-08 10:40:11, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_007299 3800 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens breast cancer 1, early onset (BRCA1), transcript
variant 5, mRNA.
ACCESSION NM_007299
VERSION NM_007299.3 GI:237681124
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 3800)
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 3800)
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 3800)
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 3800)
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 3800)
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 3800)
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 3800)
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 3800)
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 3800)
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 3800)
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 BC072418.1, BU617173.1 and
BU679389.1.
On May 16, 2009 this sequence version replaced gi:63252876.
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 (5) differs in the 5' UTR, uses
two alternate in-frame splice sites in the central coding region,
and lacks an alternate exon in the 3' coding region that results in
a frameshift, compared to variant 1. The encoded isoform (5) is
shorter and has a distinct C-terminus, compared to isoform 1.
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 :: BC072418.1 [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
1-3149 BC072418.1 1-3149
3150-3781 BU617173.1 19-650 c
3782-3800 BU679389.1 1-19 c
FEATURES Location/Qualifiers
source 1..3800
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q21"
gene 1..3800
/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="MIM:113705"
exon 1..175
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 55
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace=""
/replace="t"
/db_xref="dbSNP:8176075"
misc_feature 61
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/note="alternative transcription start site"
misc_feature 132..134
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/note="upstream in-frame stop codon"
exon 176..274
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
CDS 195..2294
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/note="isoform 5 is encoded by transcript variant 5;
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 5"
/protein_id="NP_009230.2"
/db_xref="GI:237681125"
/db_xref="CCDS:CCDS11455.2"
/db_xref="GeneID:672"
/db_xref="HGNC:1100"
/db_xref="MIM:113705"
/translation="
MDLSALRVEEVQNVINAMQKILECPICLELIKEPVSTKCDHIFCKFCMLKLLNQKKGPSQCPLCKNDITKRSLQESTRFSQLVEELLKIICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVSIIQSMGYRNRAKRLLQSEPENPSLQETSLSVQLSNLGTVRTLRTKQRIQPQKTSVYIELGSDSSEDTVNKATYCSVGDQELLQITPQGTRDEISLDSAKKAACEFSETDVTNTEHHQPSNNDLNTTEKRAAERHPEKYQGEAASGCESETSVSEDCSGLSSQSDILTTQQRDTMQHNLIKLQQEMAELEAVLEQHGSQPSNSYPSIISDSSALEDLRNPEQSTSEKVLTSQKSSEYPISQNPEGLSADKFEVSADSSTSKNKEPGVERSSPSKCPSLDDRWYMHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEGTPYLESGISLFSDDPESDPSEDRAPESARVGNIPSSTSALKVPQLKVAESAQSPAAAHTTDTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGLTPEEFMLVYKFARKHHITLTNLITEETTHVVMKTDAEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKERKMLNEHDFEVRGDVVNGRNHQGPKRARESQDRKIFRGLEICCYGPFTNMPTGCPPNCGCAARCLDRGQWLPCNWADV
"
misc_feature 252..389
/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 261..398
/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(264..266,273..275,309..311,315..317,324..326,
333..335,375..377,384..386)
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/note="cross-brace motif; other site"
/db_xref="CDD:29102"
exon 275..328
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 329..406
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 407..495
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 496..635
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 636..741
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 648
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="c"
/replace="t"
/db_xref="dbSNP:41286288"
variation 672
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:62625285"
variation 722
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:34545365"
exon 742..787
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 788..864
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 865..981
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 887
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:62625298"
variation 911
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="g"
/replace="t"
/db_xref="dbSNP:56310439"
variation 959
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:62625299"
exon 982..1070
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 1071..1242
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 1103
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="g"
/replace="t"
/db_xref="dbSNP:1800707"
exon 1243..1366
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 1353
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="c"
/db_xref="dbSNP:111034213"
exon 1367..1557
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 1387
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="c"
/replace="t"
/db_xref="dbSNP:56335406"
variation 1492
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:70953659"
variation 1526
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:28897692"
exon 1558..1868
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 1565
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="c"
/replace="t"
/db_xref="dbSNP:55688400"
variation 1740
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:8176219"
variation 1754
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="g"
/replace="t"
/db_xref="dbSNP:11555992"
variation 1819
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="t"
/db_xref="dbSNP:28897694"
exon 1869..1956
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 1957..2034
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 1982
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:45519437"
exon 2035..2075
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 2039
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="g"
/replace="t"
/db_xref="dbSNP:28897697"
exon 2076..2159
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 2160..2214
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 2208
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="c"
/replace="t"
/db_xref="dbSNP:1800757"
exon 2215..2275
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 2241
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:4438367"
exon 2276..3783
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 2279
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="t"
/db_xref="dbSNP:70953662"
STS 2322..2457
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/standard_name="PMC310899P11"
/db_xref="UniSTS:272801"
variation 2379
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="g"
/replace="t"
/db_xref="dbSNP:28897699"
variation 2442
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="t"
/db_xref="dbSNP:273902777"
STS 2448..2685
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/standard_name="RH79896"
/db_xref="UniSTS:90392"
variation 2672
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:8176317"
variation 2821
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="g"
/replace="t"
/db_xref="dbSNP:8176318"
STS 2950..3779
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/standard_name="BRCA1_4046"
/db_xref="UniSTS:464465"
STS 3130..3209
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/standard_name="D5S1597E"
/db_xref="UniSTS:151019"
variation 3181
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="c"
/replace="t"
/db_xref="dbSNP:8176319"
variation 3294
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:1060920"
variation 3300
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="t"
/db_xref="dbSNP:1060921"
variation 3687
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="c"
/replace="t"
/db_xref="dbSNP:12516"
variation 3732
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:8176320"
polyA_signal 3758..3763
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
polyA_site 3783
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
ORIGIN
cttagcggtagccccttggtttccgtggcaacggaaaagcgcgggaattacagataaattaaaactgcgactgcgcggcgtgagctcgctgagacttcctggacgggggacaggctgtggggtttctcagataactgggcccctgcgctcaggaggccttcaccctctgctctggttcattggaacagaaagaaatggatttatctgctcttcgcgttgaagaagtacaaaatgtcattaatgctatgcagaaaatcttagagtgtcccatctgtctggagttgatcaaggaacctgtctccacaaagtgtgaccacatattttgcaaattttgcatgctgaaacttctcaaccagaagaaagggccttcacagtgtcctttatgtaagaatgatataaccaaaaggagcctacaagaaagtacgagatttagtcaacttgttgaagagctattgaaaatcatttgtgcttttcagcttgacacaggtttggagtatgcaaacagctataattttgcaaaaaaggaaaataactctcctgaacatctaaaagatgaagtttctatcatccaaagtatgggctacagaaaccgtgccaaaagacttctacagagtgaacccgaaaatccttccttgcaggaaaccagtctcagtgtccaactctctaaccttggaactgtgagaactctgaggacaaagcagcggatacaacctcaaaagacgtctgtctacattgaattgggatctgattcttctgaagataccgttaataaggcaacttattgcagtgtgggagatcaagaattgttacaaatcacccctcaaggaaccagggatgaaatcagtttggattctgcaaaaaaggctgcttgtgaattttctgagacggatgtaacaaatactgaacatcatcaacccagtaataatgatttgaacaccactgagaagcgtgcagctgagaggcatccagaaaagtatcagggtgaagcagcatctgggtgtgagagtgaaacaagcgtctctgaagactgctcagggctatcctctcagagtgacattttaaccactcagcagagggataccatgcaacataacctgataaagctccagcaggaaatggctgaactagaagctgtgttagaacagcatgggagccagccttctaacagctacccttccatcataagtgactcttctgcccttgaggacctgcgaaatccagaacaaagcacatcagaaaaagtattaacttcacagaaaagtagtgaataccctataagccagaatccagaaggcctttctgctgacaagtttgaggtgtctgcagatagttctaccagtaaaaataaagaaccaggagtggaaaggtcatccccttctaaatgcccatcattagatgataggtggtacatgcacagttgctctgggagtcttcagaatagaaactacccatctcaagaggagctcattaaggttgttgatgtggaggagcaacagctggaagagtctgggccacacgatttgacggaaacatcttacttgccaaggcaagatctagagggaaccccttacctggaatctggaatcagcctcttctctgatgaccctgaatctgatccttctgaagacagagccccagagtcagctcgtgttggcaacataccatcttcaacctctgcattgaaagttccccaattgaaagttgcagaatctgcccagagtccagctgctgctcatactactgatactgctgggtataatgcaatggaagaaagtgtgagcagggagaagccagaattgacagcttcaacagaaagggtcaacaaaagaatgtccatggtggtgtctggcctgaccccagaagaatttatgctcgtgtacaagtttgccagaaaacaccacatcactttaactaatctaattactgaagagactactcatgttgttatgaaaacagatgctgagtttgtgtgtgaacggacactgaaatattttctaggaattgcgggaggaaaatgggtagttagctatttctgggtgacccagtctattaaagaaagaaaaatgctgaatgagcatgattttgaagtcagaggagatgtggtcaatggaagaaaccaccaaggtccaaagcgagcaagagaatcccaggacagaaagatcttcagggggctagaaatctgttgctatgggcccttcaccaacatgcccacagggtgtccacccaattgtggttgtgcagccagatgcctggacagaggacaatggcttccatgcaattgggcagatgtgtgaggcacctgtggtgacccgagagtgggtgttggacagtgtagcactctaccagtgccaggagctggacacctacctgataccccagatcccccacagccactactgactgcagccagccacaggtacagagccacaggaccccaagaatgagcttacaaagtggcctttccaggccctgggagctcctctcactcttcagtccttctactgtcctggctactaaatattttatgtacatcagcctgaaaaggacttctggctatgcaagggtcccttaaagattttctgcttgaagtctcccttggaaatctgccatgagcacaaaattatggtaatttttcacctgagaagattttaaaaccatttaaacgccaccaattgagcaagatgctgattcattatttatcagccctattctttctattcaggctgttgttggcttagggctggaagcacagagtggcttggcctcaagagaatagctggtttccctaagtttacttctctaaaaccctgtgttcacaaaggcagagagtcagacccttcaatggaaggagagtgcttgggatcgattatgtgacttaaagtcagaatagtccttgggcagttctcaaatgttggagtggaacattggggaggaaattctgaggcaggtattagaaatgaaaaggaaacttgaaacctgggcatggtggctcacgcctgtaatcccagcactttgggaggccaaggtgggcagatcactggaggtcaggagttcgaaaccagcctggccaacatggtgaaaccccatctctactaaaaatacagaaattagccggtcatggtggtggacacctgtaatcccagctactcaggtggctaaggcaggagaatcacttcagcccgggaggtggaggttgcagtgagccaagatcataccacggcactccagcctgggtgacagtgagactgtggctcaaaaaaaaaaaaaaaaaaaggaaaatgaaactagaagagatttctaaaagtctgagatatatttgctagatttctaaagaatgtgttctaaaacagcagaagattttcaagaaccggtttccaaagacagtcttctaattcctcattagtaataagtaaaatgtttattgttgtagctctggtatataatccattcctcttaaaatataagacctctggcatgaatatttcatatctataaaatgacagatcccaccaggaaggaagctgttgctttctttgaggtgatttttttcctttgctccctgttgctgaaaccatacagcttcataaataattttgcttgctgaaggaagaaaaagtgtttttcataaacccattatccaggactgtttatagctgttggaaggactaggtcttccctagcccccccagtgtgcaagggcagtgaagacttgattgtacaaaatacgttttgtaaatgttgtgctgttaacactgcaaataaacttggtagcaaacacttccaaaaaaaaaaaaaaaaaa
//
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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@meso_cacase at
DBCLS
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