User:JonSDSUGrad/Sandbox/TEST9 BRCA1

From Wikipedia, the free encyclopedia

Breast cancer 1, early onset, also known as BRCA1, is a human gene.

Breast cancer 1, early onset
PDB rendering based on 1jm7.
Available structures: 1jm7, 1jnx, 1n5o, 1oqa, 1t15, 1t29, 1t2u, 1t2v, 1y98
Identifiers
Symbol(s)	BRCA1; BRCAI; BRCC1; IRIS; PSCP; RNF53
External IDs	OMIM: 113705 MGI: 104537 HomoloGene: 5276
Gene ontology Molecular Function: • cell cycle checkpoint • ubiquitin ligase complex • condensed chromosome • molecular_function • DNA binding • damaged DNA binding • transcription coactivator activity • ubiquitin-protein ligase activity • protein binding • cellular_component • intracellular • nucleus • cytoplasm • DNA replication • DNA repair • regulation of transcription from RNA polymerase II promoter • regulation of transcription from RNA polymerase III promoter • fatty acid biosynthetic process • DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator • cell cycle • chromosome segregation • centrosome cycle • zinc ion binding • gamma-tubulin ring complex • DNA damage response, signal transduction resulting in induction of apoptosis • dosage compensation, by inactivation of X chromosome • tubulin binding • negative regulation of transcription • protein ubiquitination • enzyme binding • androgen receptor signaling pathway • positive regulation of protein ubiquitination • BRCA1-BARD1 complex • regulation of cell proliferation • regulation of apoptosis • negative regulation of fatty acid biosynthetic process • positive regulation of DNA repair • negative regulation of progression through cell cycle • positive regulation of transcription, DNA-dependent • negative regulation of centriole replication • metal ion binding • androgen receptor binding
Orthologs
	Human	Mouse
Entrez	672	12189
Ensembl	ENSG00000012048	ENSMUSG00000017146
Uniprot	P38398	n/a
Refseq	NM_007295 (mRNA) NP_009226 (protein)	NM_009764 (mRNA) NP_033894 (protein)
Location	Chr 17: 38.45 - 38.53 Mb	Chr 11: 101.31 - 101.37 Mb
Pubmed search	[1]	[2]

This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability and 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 BASC for BRCA1-associated genome surveillance complex. This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complex. 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 have been described for this gene but only some have had their full-length natures identified.^[1]

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