| Gene Symbol |
Brca1
|
| Entrez Gene |
12189
|
| Alt Symbol |
-
|
| Species |
Mouse
|
| Gene Type |
protein-coding
|
| Description |
breast cancer 1
|
| Other Description |
breast cancer associated 1|breast cancer type 1 susceptibility protein homolog
|
| Swissprots |
Q60957 Q60983 A2A4Q4 P48754
|
| Accessions |
AAA99742 ABY60627 ACK87008 ACM24793 EDL34053 P48754 AB221610 AB221611 AK086173 AK144702 BAE26023 BB662609 BC003248 AAH03248 BC068303 AAH68303 U31625 AAB17114 U32446 AAA96393 U35641 AAB17113 U36475 AAC52323 U68174 AAD00168 XM_006532064 XP_006532127 XM_006532068 XP_006532131 XR_879509 NM_009764 NP_033894
|
| Function |
E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for normal cell cycle progression from G2 to mitosis. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Contributes to homologous recombi
|
| Subcellular Location |
Nucleus {ECO:0000250}. Chromosome {ECO:0000269|PubMed:22549958, ECO:0000269|PubMed:23039116}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex. {ECO:0000250}.
|
| Tissue Specificity |
In the embryo, expressed in otic vesicles at day 9.5. At day 10.5, this expression decreases and high levels are found in the neuroectoderm. At days 11-12.5, high levels in differentiating keratinocytes and whisker pad primordia. At days 14-17, expression also observed in kidney epithelial cells. In the adult, highest levels found in spleen, thymus, lymph nodes, epithelial organs, and alveolar and ductal epithelial cells of the mammary gland. Very low levels in brain, kidney, and skin. No expression in heart, liver or lung.
|
| Top Pathways |
Ubiquitin mediated proteolysis, Fanconi anemia pathway, PI3K-Akt signaling pathway, MicroRNAs in cancer
|