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2024-04-27 11:02:45, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_007298 3699 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens breast cancer 1, early onset (BRCA1), transcript
variant 4, mRNA.
ACCESSION NM_007298 NM_007304
VERSION NM_007298.3 GI:237681122
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 3699)
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 3699)
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 3699)
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 3699)
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 3699)
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 3699)
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 3699)
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 3699)
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 3699)
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 3699)
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, U64805.1,
BC072418.1, BU617173.1 and BU679389.1.
On or before May 16, 2009 this sequence version replaced
gi:63252881, gi:63252875.
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 (4, also known as BRCA1-delta11b)
differs in the 5' UTR and uses two alternate in-frame splice sites
in the central coding region, compared to variant 1. The encoded
isoform (4) is shorter than 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 :: U64805.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-19 AL701927.1 214-232
20-734 U64805.1 1-715
735-777 BC072418.1 910-952
778-985 U64805.1 759-966
986-1018 BC072418.1 1161-1193
1019-1543 U64805.1 1000-1524
1544-1544 BC072418.1 1719-1719
1545-2299 U64805.1 1526-2280
2300-3048 BC072418.1 2401-3149
3049-3680 BU617173.1 19-650 c
3681-3699 BU679389.1 1-19 c
FEATURES Location/Qualifiers
source 1..3699
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q21"
gene 1..3699
/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..99
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
CDS 20..2299
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/note="isoform 4 is encoded by transcript variant 4;
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 4"
/protein_id="NP_009229.2"
/db_xref="GI:237681123"
/db_xref="CCDS:CCDS11454.2"
/db_xref="GeneID:672"
/db_xref="HGNC:1100"
/db_xref="MIM:113705"
/translation="
MDLSALRVEEVQNVINAMQKILECPICLELIKEPVSTKCDHIFCKFCMLKLLNQKKGPSQCPLCKNDITKRSLQESTRFSQLVEELLKIICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVSIIQSMGYRNRAKRLLQSEPENPSLQETSLSVQLSNLGTVRTLRTKQRIQPQKTSVYIELGSDSSEDTVNKATYCSVGDQELLQITPQGTRDEISLDSAKKAACEFSETDVTNTEHHQPSNNDLNTTEKRAAERHPEKYQGEAASGCESETSVSEDCSGLSSQSDILTTQQRDTMQHNLIKLQQEMAELEAVLEQHGSQPSNSYPSIISDSSALEDLRNPEQSTSEKVLTSQKSSEYPISQNPEGLSADKFEVSADSSTSKNKEPGVERSSPSKCPSLDDRWYMHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEGTPYLESGISLFSDDPESDPSEDRAPESARVGNIPSSTSALKVPQLKVAESAQSPAAAHTTDTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGLTPEEFMLVYKFARKHHITLTNLITEETTHVVMKTDAEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKERKMLNEHDFEVRGDVVNGRNHQGPKRARESQDRKIFRGLEICCYGPFTNMPTDQLEWMVQLCGASVVKELSSFTLGTGVHPIVVVQPDAWTEDNGFHAIGQMCEAPVVTREWVLDSVALYQCQELDTYLIPQIPHSHY
"
misc_feature 77..214
/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 86..223
/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(89..91,98..100,134..136,140..142,149..151,158..160,
200..202,209..211)
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/note="cross-brace motif; other site"
/db_xref="CDD:29102"
misc_feature 1994..2233
/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(2039..2041,2051..2053,2060..2062,2069..2071,
2075..2077)
/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(2216..2218,2228..2230)
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/note="BRCT sequence motif; other site"
/db_xref="CDD:28909"
exon 100..153
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 154..231
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 232..320
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 321..460
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 461..566
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 473
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="c"
/replace="t"
/db_xref="dbSNP:41286288"
variation 497
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:62625285"
variation 547
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:34545365"
exon 567..612
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 613..689
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 690..806
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 712
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:62625298"
variation 736
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="g"
/replace="t"
/db_xref="dbSNP:56310439"
variation 784
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:62625299"
exon 807..895
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 896..1067
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 928
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="g"
/replace="t"
/db_xref="dbSNP:1800707"
exon 1068..1191
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 1178
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="c"
/db_xref="dbSNP:111034213"
exon 1192..1382
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 1212
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="c"
/replace="t"
/db_xref="dbSNP:56335406"
variation 1317
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:70953659"
variation 1351
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:28897692"
exon 1383..1693
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 1390
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="c"
/replace="t"
/db_xref="dbSNP:55688400"
variation 1565
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:8176219"
variation 1579
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="g"
/replace="t"
/db_xref="dbSNP:11555992"
variation 1644
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="t"
/db_xref="dbSNP:28897694"
exon 1694..1781
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 1782..1859
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 1807
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:45519437"
exon 1860..1900
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 1864
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="g"
/replace="t"
/db_xref="dbSNP:28897697"
exon 1901..1984
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 1985..2039
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 2033
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="c"
/replace="t"
/db_xref="dbSNP:1800757"
exon 2040..2113
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
exon 2114..2174
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 2140
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:4438367"
exon 2175..3682
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/inference="alignment:Splign:1.39.8"
variation 2178
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="t"
/db_xref="dbSNP:70953662"
STS 2221..2356
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/standard_name="PMC310899P11"
/db_xref="UniSTS:272801"
variation 2278
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="g"
/replace="t"
/db_xref="dbSNP:28897699"
variation 2341
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="t"
/db_xref="dbSNP:273902777"
STS 2347..2584
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/standard_name="RH79896"
/db_xref="UniSTS:90392"
variation 2571
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:8176317"
variation 2720
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="g"
/replace="t"
/db_xref="dbSNP:8176318"
STS 2849..3678
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/standard_name="BRCA1_4046"
/db_xref="UniSTS:464465"
STS 3029..3108
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/standard_name="D5S1597E"
/db_xref="UniSTS:151019"
variation 3080
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="c"
/replace="t"
/db_xref="dbSNP:8176319"
variation 3193
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:1060920"
variation 3199
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="t"
/db_xref="dbSNP:1060921"
variation 3586
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="c"
/replace="t"
/db_xref="dbSNP:12516"
variation 3631
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
/replace="a"
/replace="g"
/db_xref="dbSNP:8176320"
polyA_signal 3657..3662
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
polyA_site 3682
/gene="BRCA1"
/gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
PPP1R53; PSCP; RNF53"
ORIGIN
ttcattggaacagaaagaaatggatttatctgctcttcgcgttgaagaagtacaaaatgtcattaatgctatgcagaaaatcttagagtgtcccatctgtctggagttgatcaaggaacctgtctccacaaagtgtgaccacatattttgcaaattttgcatgctgaaacttctcaaccagaagaaagggccttcacagtgtcctttatgtaagaatgatataaccaaaaggagcctacaagaaagtacgagatttagtcaacttgttgaagagctattgaaaatcatttgtgcttttcagcttgacacaggtttggagtatgcaaacagctataattttgcaaaaaaggaaaataactctcctgaacatctaaaagatgaagtttctatcatccaaagtatgggctacagaaaccgtgccaaaagacttctacagagtgaacccgaaaatccttccttgcaggaaaccagtctcagtgtccaactctctaaccttggaactgtgagaactctgaggacaaagcagcggatacaacctcaaaagacgtctgtctacattgaattgggatctgattcttctgaagataccgttaataaggcaacttattgcagtgtgggagatcaagaattgttacaaatcacccctcaaggaaccagggatgaaatcagtttggattctgcaaaaaaggctgcttgtgaattttctgagacggatgtaacaaatactgaacatcatcaacccagtaataatgatttgaacaccactgagaagcgtgcagctgagaggcatccagaaaagtatcagggtgaagcagcatctgggtgtgagagtgaaacaagcgtctctgaagactgctcagggctatcctctcagagtgacattttaaccactcagcagagggataccatgcaacataacctgataaagctccagcaggaaatggctgaactagaagctgtgttagaacagcatgggagccagccttctaacagctacccttccatcataagtgactcttctgcccttgaggacctgcgaaatccagaacaaagcacatcagaaaaagtattaacttcacagaaaagtagtgaataccctataagccagaatccagaaggcctttctgctgacaagtttgaggtgtctgcagatagttctaccagtaaaaataaagaaccaggagtggaaaggtcatccccttctaaatgcccatcattagatgataggtggtacatgcacagttgctctgggagtcttcagaatagaaactacccatctcaagaggagctcattaaggttgttgatgtggaggagcaacagctggaagagtctgggccacacgatttgacggaaacatcttacttgccaaggcaagatctagagggaaccccttacctggaatctggaatcagcctcttctctgatgaccctgaatctgatccttctgaagacagagccccagagtcagctcgtgttggcaacataccatcttcaacctctgcattgaaagttccccaattgaaagttgcagaatctgcccagagtccagctgctgctcatactactgatactgctgggtataatgcaatggaagaaagtgtgagcagggagaagccagaattgacagcttcaacagaaagggtcaacaaaagaatgtccatggtggtgtctggcctgaccccagaagaatttatgctcgtgtacaagtttgccagaaaacaccacatcactttaactaatctaattactgaagagactactcatgttgttatgaaaacagatgctgagtttgtgtgtgaacggacactgaaatattttctaggaattgcgggaggaaaatgggtagttagctatttctgggtgacccagtctattaaagaaagaaaaatgctgaatgagcatgattttgaagtcagaggagatgtggtcaatggaagaaaccaccaaggtccaaagcgagcaagagaatcccaggacagaaagatcttcagggggctagaaatctgttgctatgggcccttcaccaacatgcccacagatcaactggaatggatggtacagctgtgtggtgcttctgtggtgaaggagctttcatcattcacccttggcacaggtgtccacccaattgtggttgtgcagccagatgcctggacagaggacaatggcttccatgcaattgggcagatgtgtgaggcacctgtggtgacccgagagtgggtgttggacagtgtagcactctaccagtgccaggagctggacacctacctgataccccagatcccccacagccactactgactgcagccagccacaggtacagagccacaggaccccaagaatgagcttacaaagtggcctttccaggccctgggagctcctctcactcttcagtccttctactgtcctggctactaaatattttatgtacatcagcctgaaaaggacttctggctatgcaagggtcccttaaagattttctgcttgaagtctcccttggaaatctgccatgagcacaaaattatggtaatttttcacctgagaagattttaaaaccatttaaacgccaccaattgagcaagatgctgattcattatttatcagccctattctttctattcaggctgttgttggcttagggctggaagcacagagtggcttggcctcaagagaatagctggtttccctaagtttacttctctaaaaccctgtgttcacaaaggcagagagtcagacccttcaatggaaggagagtgcttgggatcgattatgtgacttaaagtcagaatagtccttgggcagttctcaaatgttggagtggaacattggggaggaaattctgaggcaggtattagaaatgaaaaggaaacttgaaacctgggcatggtggctcacgcctgtaatcccagcactttgggaggccaaggtgggcagatcactggaggtcaggagttcgaaaccagcctggccaacatggtgaaaccccatctctactaaaaatacagaaattagccggtcatggtggtggacacctgtaatcccagctactcaggtggctaaggcaggagaatcacttcagcccgggaggtggaggttgcagtgagccaagatcataccacggcactccagcctgggtgacagtgagactgtggctcaaaaaaaaaaaaaaaaaaaggaaaatgaaactagaagagatttctaaaagtctgagatatatttgctagatttctaaagaatgtgttctaaaacagcagaagattttcaagaaccggtttccaaagacagtcttctaattcctcattagtaataagtaaaatgtttattgttgtagctctggtatataatccattcctcttaaaatataagacctctggcatgaatatttcatatctataaaatgacagatcccaccaggaaggaagctgttgctttctttgaggtgatttttttcctttgctccctgttgctgaaaccatacagcttcataaataattttgcttgctgaaggaagaaaaagtgtttttcataaacccattatccaggactgtttatagctgttggaaggactaggtcttccctagcccccccagtgtgcaagggcagtgaagacttgattgtacaaaatacgttttgtaaatgttgtgctgttaacactgcaaataaacttggtagcaaacacttccaaaaaaaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
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