BRCA1 breast cancer 1, early onset [Homo sapiens (human)]

Gene Symbol	BRCA1
Entrez Gene ID	672
Full Name	breast cancer 1, early onset
Synonyms	BRCAI, BRCC1, BROVCA1, IRIS, PNCA4, PSCP, RNF53
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:17 Map Location:17q21
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].
Disorder	MIM: 113705 {Breast-ovarian cancer, familial, 1}, 604370 (3); {Pancreatic cancer,

mRNA	NM_007294, 237757283
Protein	NP_009225, 6552299
Product	breast cancer type 1 susceptibility protein isoform 1
RefSeq Status	REVIEWED
mRNA	NM_007298, 237681122
Protein	NP_009229, 237681123
Product	breast cancer type 1 susceptibility protein isoform 4
RefSeq Status	REVIEWED
mRNA	NM_007300, 237681118
Protein	NP_009231, 237681119
Product	breast cancer type 1 susceptibility protein isoform 2
RefSeq Status	REVIEWED
mRNA	NM_007297, 237681120
Protein	NP_009228, 237681121
Product	breast cancer type 1 susceptibility protein isoform 3
RefSeq Status	REVIEWED
mRNA	NM_007299, 237681124
Protein	NP_009230, 237681125
Product	breast cancer type 1 susceptibility protein isoform 5
RefSeq Status	REVIEWED

KEGG

hsa04120

Ubiquitin mediated proteolysis

WikiPathways

WP138

Androgen Receptor Signaling Pathway

Pathway Interaction Database

bard1pathway	BARD1 signaling events
atf2_pathway	ATF-2 transcription factor network
aurora_a_pathway	Aurora A signaling
myc_represspathway	Validated targets of C-MYC transcriptional repression
e2f_pathway	E2F transcription factor network
hnf3apathway	FOXA1 transcription factor network
ar_pathway	Coregulation of Androgen receptor activity

Reactome

REACT_216	DNA Repair
REACT_1874	Homologous Recombination Repair
REACT_1587	Homologous recombination repair of replication-independent double-strand breaks
REACT_1924	ATM mediated phosphorylation of repair proteins
REACT_18410	Fanconi Anemia pathway
REACT_204	ATM mediated response to DNA double-strand break
REACT_97	Recruitment of repair and signaling proteins to double-strand breaks
REACT_2054	Double-Strand Break Repair

Homo sapiens (human)	BRCA1	NP_009225.1
Pan troglodytes (chimpanzee)	BRCA1	XP_001157352.1
Canis lupus familiaris (dog)	BRCA1	NP_001013434.1
Bos taurus (cattle)	BRCA1	NP_848668.1
Mus musculus (house mouse)	Brca1	NP_033894.2
Rattus norvegicus (Norway rat)	Brca1	NP_036646.1
Gallus gallus (chicken)	BRCA1	NP_989500.1

Process

ID	Name	Evidence
GO:0000724	double-strand break repair via homologous recombination	IDA
GO:0000724	double-strand break repair via homologous recombination	TAS
GO:0006260	DNA replication	IEA
GO:0006281	DNA repair	TAS
GO:0006301	postreplication repair	IDA
GO:0006302	double-strand break repair	IMP
GO:0006302	double-strand break repair	TAS
GO:0006310	DNA recombination	IEA
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS
GO:0006359	regulation of transcription from RNA polymerase III promoter	TAS
GO:0006915	apoptosis	TAS
GO:0006974	response to DNA damage stimulus	TAS
GO:0006978	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	TAS
GO:0007049	cell cycle	IEA
GO:0007059	chromosome segregation	IMP
GO:0007098	centrosome cycle	IEA
GO:0007420	brain development	IEA
GO:0007584	response to nutrient	IEA
GO:0008630	DNA damage response, signal transduction resulting in induction of apoptosis	IDA
GO:0009048	dosage compensation, by inactivation of X chromosome	IEA
GO:0010212	response to ionizing radiation	IMP
GO:0016567	protein ubiquitination	IDA
GO:0030521	androgen receptor signaling pathway	NAS
GO:0031398	positive regulation of protein ubiquitination	IDA
GO:0031572	G2/M transition DNA damage checkpoint	IMP
GO:0033993	response to lipid	IEA
GO:0034446	substrate adhesion-dependent cell spreading	IDA
GO:0035066	positive regulation of histone acetylation	IDA
GO:0042127	regulation of cell proliferation	TAS
GO:0042981	regulation of apoptosis	TAS
GO:0043009	chordate embryonic development	IEA
GO:0043627	response to estrogen stimulus	IDA
GO:0045717	negative regulation of fatty acid biosynthetic process	IMP
GO:0045739	positive regulation of DNA repair	IMP
GO:0045892	negative regulation of transcription, DNA-dependent	IDA
GO:0045893	positive regulation of transcription, DNA-dependent	NAS
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP
GO:0046600	negative regulation of centriole replication	NAS
GO:0051571	positive regulation of histone H3-K4 methylation	IDA
GO:0051573	negative regulation of histone H3-K9 methylation	IDA
GO:0051865	protein autoubiquitination	IDA
GO:0070512	positive regulation of histone H4-K20 methylation	IDA
GO:0071158	positive regulation of cell cycle arrest	IDA
GO:0071681	cellular response to indole-3-methanol	IDA
GO:0085020	protein K6-linked ubiquitination	IDA
GO:2000145	regulation of cell motility	IDA

Component

ID	Name	Evidence
GO:0000151	ubiquitin ligase complex	NAS
GO:0000794	condensed nuclear chromosome	IEA
GO:0001726	ruffle	IDA
GO:0005622	intracellular	IEA
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	EXP
GO:0005654	nucleoplasm	TAS
GO:0005737	cytoplasm	IEA
GO:0005759	mitochondrial matrix	IEA
GO:0005886	plasma membrane	IDA
GO:0005925	focal adhesion	IDA
GO:0008274	gamma-tubulin ring complex	NAS
GO:0030529	ribonucleoprotein complex	IDA
GO:0031436	BRCA1-BARD1 complex	IDA
GO:0031941	filamentous actin	IDA
GO:0043234	protein complex	IDA
GO:0070531	BRCA1-A complex	IDA

Function

ID	Name	Evidence
GO:0003677	DNA binding	TAS
GO:0003684	damaged DNA binding	IEA
GO:0003713	transcription coactivator activity	NAS
GO:0003723	RNA binding	IDA
GO:0004842	ubiquitin-protein ligase activity	IDA
GO:0004842	ubiquitin-protein ligase activity	IDA
GO:0005515	protein binding	IPI
GO:0008270	zinc ion binding	IEA
GO:0015631	tubulin binding	NAS
GO:0016874	ligase activity	IEA
GO:0019899	enzyme binding	IPI
GO:0031625	ubiquitin protein ligase binding	IPI
GO:0042802	identical protein binding	IPI
GO:0046872	metal ion binding	IEA
GO:0050681	androgen receptor binding	NAS

GeneCards	BRCA1
PDB	3K15, 2ING, 1T2V, 3K0H, 3K0K, 1JNX, 1JM7, 1Y98, 3COJ, 3K16, 1T15, 1N5O, 1T2U, 1OQA, 1T29
UniProt	Q3LRJ6, Q6IN79, E9PFZ0, Q1RMC1, P38398
MIM	113705
Ensembl	ENSG00000012048
HGNC	1100
HPRD	00218

RefSeq Accession	Definition	Sequence	Price	Select
NM_007294	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	Full Length	$3250.80
NM_007294		ORF Sequence	$2516.40
NM_007298	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 4, mRNA.	Full Length	$1294.65
NM_007298		ORF Sequence	$661.20
NM_007300	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 2, mRNA.	Full Length	$3279.15
NM_007300		ORF Sequence	$2544.75
NM_007297	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 3, mRNA.	Full Length	$3209.40
NM_007297		ORF Sequence	$2452.95
NM_007299	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 5, mRNA.	Full Length	$1330.00
NM_007299		ORF Sequence	$609.00

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