BRCA1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

BRCA1

Aliases

BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53

Entrez Gene ID

672

Gene Name

BRCA1 DNA repair associated

Chromosomal Location

17q21.31

HGNC ID

HGNC:1100

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]

RefSeq DNA

NG_005905.2

RefSeq mRNA

U14680.1, NR_027676.2, NM_007294.4, NM_007297.4, NM_007298.3, NM_007299.4, NM_007300.4, NM_007294.3

e!Ensembl

Gene	ENSG00000012048
Transcript	ENST00000352993, ENST00000357654, ENST00000471181, ENST00000468300, ENST00000644379, ENST00000586385, ENST00000591534, ENST00000591849, ENST00000493795, ENST00000461221, ENST00000491747, ENST00000484087, ENST00000478531, ENST00000493919, ENST00000487825, ENST00000461574, ENST00000354071, ENST00000634433, ENST00000412061, ENST00000470026, ENST00000652672, ENST00000477152, ENST00000492859, ENST00000497488, ENST00000494123, ENST00000473961, ENST00000642945, ENST00000476777, ENST00000461798, ENST00000489037, ENST00000644555, ENST00000618469
Protein	ENSP00000312236, ENSP00000350283, ENSP00000418960, ENSP00000417148, ENSP00000496570, ENSP00000465818, ENSP00000467329, ENSP00000465347, ENSP00000418775, ENSP00000418548, ENSP00000420705, ENSP00000419481, ENSP00000420412, ENSP00000418819, ENSP00000418212, ENSP00000417241, ENSP00000326002, ENSP00000489431, ENSP00000397145, ENSP00000419274, ENSP00000498906, ENSP00000419988, ENSP00000420253, ENSP00000418986, ENSP00000419103, ENSP00000420201, ENSP00000495897, ENSP00000417554, ENSP00000417988, ENSP00000420781, ENSP00000494614, ENSP00000478114

Gene Ontology (GO)

Show/Hide all(80 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000724	Biological process	Double-strand break repair via homologous recombination	IBA	21873635
GO:0000724	Biological process	Double-strand break repair via homologous recombination	IDA	17349954
GO:0006301	Biological process	Postreplication repair	IDA	17349954
GO:0006302	Biological process	Double-strand break repair	IDA	22186889
GO:0006302	Biological process	Double-strand break repair	IMP	17525340, 17643121, 19261748
GO:0006357	Biological process	Regulation of transcription by RNA polymerase II	IMP	9662397
GO:0006359	Biological process	Regulation of transcription by RNA polymerase III	TAS	10918303
GO:0006915	Biological process	Apoptotic process	TAS	10918303
GO:0006974	Biological process	Cellular response to DNA damage stimulus	TAS	10910365
GO:0006978	Biological process	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	TAS	10918303
GO:0007059	Biological process	Chromosome segregation	IMP	15965487
GO:0008630	Biological process	Intrinsic apoptotic signaling pathway in response to DNA damage	IDA	14654789
GO:0009048	Biological process	Dosage compensation by inactivation of X chromosome	IBA	21873635
GO:0010212	Biological process	Response to ionizing radiation	IMP	17525340, 17643121, 19261748
GO:0010575	Biological process	Positive regulation of vascular endothelial growth factor production	IMP	23415688
GO:0010628	Biological process	Positive regulation of gene expression	IMP	23415688
GO:0016567	Biological process	Protein ubiquitination	IDA	17349954
GO:0030521	Biological process	Androgen receptor signaling pathway	NAS	15572661
GO:0031398	Biological process	Positive regulation of protein ubiquitination	IDA	15965487
GO:0033147	Biological process	Negative regulation of intracellular estrogen receptor signaling pathway	IMP	17505062
GO:0035066	Biological process	Positive regulation of histone acetylation	IBA	21873635
GO:0035066	Biological process	Positive regulation of histone acetylation	IDA	20820192
GO:0035067	Biological process	Negative regulation of histone acetylation	IBA	21873635
GO:0042127	Biological process	Regulation of cell proliferation	TAS	10918303
GO:0042981	Biological process	Regulation of apoptotic process	TAS	10918303
GO:0043009	Biological process	Chordate embryonic development	IBA	21873635
GO:0043627	Biological process	Response to estrogen	IDA	8895509
GO:0045717	Biological process	Negative regulation of fatty acid biosynthetic process	IBA	21873635
GO:0045717	Biological process	Negative regulation of fatty acid biosynthetic process	IMP	16326698
GO:0045739	Biological process	Positive regulation of DNA repair	IMP	17525340, 17643121, 19261748
GO:0045766	Biological process	Positive regulation of angiogenesis	IMP	23415688
GO:0045892	Biological process	Negative regulation of transcription, DNA-templated	IDA	16288014
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IDA	20160719
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	NAS	15572661
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	TAS	10918303
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	16331276
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IMP	20820192
GO:0046600	Biological process	Negative regulation of centriole replication	NAS	12214252
GO:0051571	Biological process	Positive regulation of histone H3-K4 methylation	IDA	20820192
GO:0051573	Biological process	Negative regulation of histone H3-K9 methylation	IDA	20820192
GO:0051865	Biological process	Protein autoubiquitination	IDA	12890688, 20351172
GO:0070512	Biological process	Positive regulation of histone H4-K20 methylation	IDA	20820192
GO:0071158	Biological process	Positive regulation of cell cycle arrest	IBA	21873635
GO:0071158	Biological process	Positive regulation of cell cycle arrest	IDA	21102443
GO:0071356	Biological process	Cellular response to tumor necrosis factor	IMP	23415688
GO:0071681	Biological process	Cellular response to indole-3-methanol	IDA	10868478
GO:0072425	Biological process	Signal transduction involved in G2 DNA damage checkpoint	IMP	17525340, 17643121, 19261748
GO:0085020	Biological process	Protein K6-linked ubiquitination	IDA	12890688, 20351172
GO:1902042	Biological process	Negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP	23415688
GO:2000378	Biological process	Negative regulation of reactive oxygen species metabolic process	IMP	23415688
GO:2000617	Biological process	Positive regulation of histone H3-K9 acetylation	IDA	20820192
GO:2000620	Biological process	Positive regulation of histone H4-K16 acetylation	IDA	20820192
GO:0000151	Cellular component	Ubiquitin ligase complex	NAS	14976165
GO:0000800	Cellular component	Lateral element	IDA	9774970
GO:0005634	Cellular component	Nucleus	IDA	17525340, 17643121, 20160719, 23855721
GO:0005737	Cellular component	Cytoplasm	IDA	20160719
GO:0005886	Cellular component	Plasma membrane	IBA	21873635
GO:0005886	Cellular component	Plasma membrane	IDA	21282464
GO:0008274	Cellular component	Gamma-tubulin ring complex	NAS	12214252
GO:0031436	Cellular component	BRCA1-BARD1 complex	IBA	21873635
GO:0031436	Cellular component	BRCA1-BARD1 complex	IDA	12890688, 15265711, 19117993, 20351172
GO:0032991	Cellular component	Protein-containing complex	IDA	9774970
GO:0070531	Cellular component	BRCA1-A complex	IBA	21873635
GO:0070531	Cellular component	BRCA1-A complex	IDA	17525340, 17525341, 17525342, 19261748, 19261749
GO:1990904	Cellular component	Ribonucleoprotein complex	IDA	18809582
GO:0003677	Molecular function	DNA binding	TAS	9662397
GO:0003713	Molecular function	Transcription coactivator activity	IMP	9662397
GO:0003713	Molecular function	Transcription coactivator activity	NAS	15572661
GO:0003723	Molecular function	RNA binding	IDA	12419249
GO:0004842	Molecular function	Ubiquitin-protein transferase activity	IBA	21873635
GO:0004842	Molecular function	Ubiquitin-protein transferase activity	IDA	12890688, 17349954, 19117993, 20351172
GO:0005515	Molecular function	Protein binding	IPI	8944023, 9497340, 9528852, 9662397, 9774970, 9811458, 10477523, 10855792, 11090615, 11301010, 11739404, 11751867, 11836499, 11877377, 12242698, 12419185, 12607005, 14550570, 14576433, 14654789, 15107825, 15265711, 15674350, 15965487, 16326698, 16452482, 17334399, 17511879, 17525332
GO:0015631	Molecular function	Tubulin binding	NAS	12214252
GO:0019899	Molecular function	Enzyme binding	IPI	15965487
GO:0031625	Molecular function	Ubiquitin protein ligase binding	IPI	17873885
GO:0042802	Molecular function	Identical protein binding	IPI	8944023, 29656893
GO:0044212	Molecular function	Transcription regulatory region DNA binding	IDA	20820192
GO:0050681	Molecular function	Androgen receptor binding	NAS	15572661
GO:0070063	Molecular function	RNA polymerase binding	IDA	9662397

Protein Information

Protein Name

Breast cancer type 1 susceptibility protein, BRCA1/BRCA2-containing complex, subunit 1, Fanconi anemia, complementation group S, RING finger protein 53, breast and ovarian cancer susceptibility protein 1, breast cancer 1, early onset, early onset breast cancer 1, protein phosphatase 1, regulatory subunit 53

Function

Refseq Proteins

AAA73985.1, , NP_009225.1, NP_009228.2, NP_009229.2, NP_009230.2, NP_009231.2

UniProt

P38398

PDB

4JLU, 4U4A, 4Y18, 4Y2G, 3COJ, 6G2I, 4IGK, 1JM7, 4IFI, 1JNX, 1N5O, 1OQA, 1T15, 1T29, 1T2U, 1T2V, 1Y98, 2ING, 3K0H, 3K0K, 3K15, 3K16, 3PXA, 3PXB, 3PXC, 3PXD, 3PXE, 4OFB

Pfam

Pfam Accession	Pfam ID
PF00533	BRCT
PF12820	BRCT_assoc
PF00097	zf-C3HC4