| Gene Symbol |
BRCA1
|
| Entrez Gene |
672
|
| Alt Symbol |
BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
breast cancer 1, early onset
|
| Other Description |
BRCA1/BRCA2-containing complex, subunit 1|Fanconi anemia, complementation group S|RING finger protein 53|breast and ovarian cancer susceptibility protein 1|breast and ovarian cancer sususceptibility protein 1|breast cancer type 1 susceptibility protein|protein phosphatase 1, regulatory subunit 53
|
| Swissprots |
O15129 Q7KYU9 Q3LRJ6 Q6IN79 Q3LRJ0 Q1RMC1 P38398
|
| Accessions |
AAB34725 AAB40910 AAC37594 AAC50330 AAF97939 AAM18218 AAM18219 AAM18220 AAM18221 AAM18222 AAM18223 AAM18224 AAM18225 AAM18226 AAN10167 AAN61423 AAN61424 AAN61425 AAN71744 AAP12647 AAP70031 AAU21563 AAU21564 AAU21565 AAZ05886 AAZ16492 AAZ79406 AAZ79407 AAZ79408 AAZ79409 AAZ79410 ABA29208 ABA29211 ABA29214 ABA29217 ABA29220 ABA29223 ABA29226 ABA29229 ABB87053 ABB87054 ABB87055 ABB87056 ABB87057 ABB87058 ABB87059 ABB87060 ABB87061 ABB87062 ABB87063 ABB87064 ABB87065 ABB87066 ABB87067 ABB87068 ABB87069 ABB87070 ABB87071 ABB87072 ABB87073 ABB87074 ABB87075 ABB87076 ABB87077 ABB87078 ABB87079 ABF14462 ACR33809 AFU88802 AFU88803 AFU88804 AFU88805 AFU88806 AFU88807 AFU88808 AFU88809 AIC83539 AIC83540 AIC83541 AIC83542 AIC83544 AIC83545 AIC83546 AIC83547 AIC83548 AIC83549 AIC83550 AIC83551 AIC83552 AIC83553 AIC83554 AIC83555 AIC83556 AIC83557 AIC83558 AIC83559 AIC83571 AIC83572 AIC83573 AIC83574 AIC83575 AIC83576 AIC83577 AIC83578 AIC83579 AIC83580 AIC83581 AIC83582 AIY34492 AKE50574 AKE50575 AKE50576 AKE50577 AKE50578 AKE50579 AKE50580 AKE50581 CAA70003 CCD57768 CCD57769 CCD57770 CCD57771 CCD57772 CCD57773 CCD57774 EAW60922 EAW60923 EAW60924 EAW60925 EAW60926 EAW60927 EAW60928 EAW60929 EAW60930 EAW60931 EAW60932 EAW60933 EAW60934 EAW60935 EAW60936 EAW60937 EAW60938 EAW60939 EAW60940 EAW60941 EAW60942 P38398 AB621825 BAK64160 AF005068 AAB61673 AF274503 AK307553 AK308084 AK316200 BAH14571 AL701927 AY354539 AAQ92977 AY751490 AAU93634 BC012577 BC030969 AAH30969 BC038947 BC046142 BC062429 AAH62429 BC072418 AAH72418 BC085615 AAH85615 BC106745 AAI06746 BC106746 AAI06747 BC114511 BC114562 BC115037 AAI15038 BU617173 BU679389 DQ333386 ABC59810 DQ333387 ABC59811 DQ363751 ABC88652 JN686490 AEQ98814 U14680 AAA73985 U64805 AAC00049 U68041 AAB08105 Y08864 NM_007294 NP_009225 NM_007297 NP_009228 NM_007298 NP_009229 NM_007299 NP_009230 NM_007300 NP_009231 NR_027676 NM_007295 NM_007296 NM_007301 NM_007302 NM_007303 NM_007305 NM_007306
|
| 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. Inhibits lipid synthesis by bindi
|
| Subcellular Location |
Isoform 5: Cytoplasm {ECO:0000269|PubMed:8972225}.
|
| Tissue Specificity |
Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines.
|
| Top Pathways |
Ubiquitin mediated proteolysis, Fanconi anemia pathway, PI3K-Akt signaling pathway, MicroRNAs in cancer
|