Symbol: Name: ID: |
BRCA1 breast cancer 1, early onset GFS:908 |
Gene name: | BRCA1 |
Chromosome: | 17q21-q24 |
Previous Symbols: | |
Previous Names: | |
Aliases: | RNF53, BRCC1 |
Name Aliases: | BRCA1/BRCA2-containing complex, subunit 1 |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:104537 | Rat Genome Database ID: | RGD:2218 |
HGNC ID: | HGNC:1100 | RefSeq IDs: | NM_007294 |
Entrez Gene ID: | 672 | Ensembl Gene ID: | ENSG00000012048 |
VEGA IDs: | OTTHUMG00000157426 | UniProt ID: | P38398 |
UCSC ID: | uc002ict.2 | OMIM ID: | 113705 |
Pubmed: | PMID1676470 | ||
CCDS IDs: | CCDSCCDS11453.1 CCDS CCDS11454.1 CCDS CCDS11455.1 CCDS CCDS11456.1 CCDS CCDS11459.1 |
BRCA1 (breast cancer 1, early onset, often pronounced /ˈbrækə/ is a human caretaker gene that produces a protein called breast cancer type 1 susceptibility protein, responsible for repairing DNA. It originally stood for Berkeley, California, as the first evidence for the existence of the gene was provided by the King laboratory at UC Berkeley in 1990.The gene was later cloned in 1994 by scientists at Myriad Genetics. 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].
Products for BRCA1 gene
Catalog | Product Name | Application | Company |
GFS:E00908 | breast cancer 1, early onset; ELISA kit | ELISA | n/a |
GFS:A00908 | breast cancer 1, early onset; Anti | ANTIBODIES | n/a |
GFS:P00908 | breast cancer 1, early onset; Protien | Protien | n/a |