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 (PubMed:10500182, PubMed:12887909, PubMed:12890688, PubMed:14976165, PubMed:16818604, PubMed:17525340, PubMed:19261748). It is unclear whether it also mediates the formation of other types of polyubiquitin chains (PubMed:12890688). The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability (PubMed:12890688, PubMed:14976165, PubMed:20351172). Regulates centrosomal microtubule nucleation (PubMed:18056443). Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle (PubMed:10724175, PubMed:11836499, PubMed:12183412, PubMed:19261748). Required for FANCD2 targeting to sites of DNA damage (PubMed:12887909). Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation (PubMed:16326698). Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks (PubMed:19369211). Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8 (PubMed:16818604). Acts as a transcriptional activator (PubMed:20160719). {ECO:0000269|PubMed:10500182, ECO:0000269|PubMed:10724175, ECO:0000269|PubMed:11836499, ECO:0000269|PubMed:12183412, ECO:0000269|PubMed:12887909, ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165, ECO:0000269|PubMed:16326698, ECO:0000269|PubMed:16818604, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:18056443, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19369211, ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:20351172}.
Chromosome
17
Biotype
protein_coding
Diseases
25
Variants
50
Also Known As
25 disease associations found
| Disease | Score | Therapeutic Areas |
|---|---|---|
| breast cancer | 0.84 | cancer or benign tumorreproductive system or breast diseaseintegumentary system disease |
| Hereditary breast and ovarian cancer syndrome | 0.83 | cancer or benign tumorendocrine system diseasereproductive system or breast diseaseintegumentary system diseasegenetic, familial or congenital disease |
| Fanconi anemia, complementation group S | 0.82 | nutritional or metabolic diseasemusculoskeletal or connective tissue diseasegenetic, familial or congenital diseaseimmune system diseasehematologic disease |
| ovarian cancer | 0.81 | endocrine system diseasecancer or benign tumorreproductive system or breast disease |
| breast-ovarian cancer, familial, susceptibility to, 1 | 0.80 | genetic, familial or congenital diseasecancer or benign tumor |
| breast neoplasm | 0.80 | integumentary system diseasecancer or benign tumorreproductive system or breast disease |
| ovarian neoplasm | 0.79 | cancer or benign tumorreproductive system or breast diseaseendocrine system disease |
| cancer | 0.75 | cancer or benign tumor |
| breast carcinoma | 0.74 | cancer or benign tumorintegumentary system diseasereproductive system or breast disease |
| Fanconi anemia complementation group A | 0.72 | genetic, familial or congenital diseasemusculoskeletal or connective tissue diseaseimmune system diseasehematologic diseasenutritional or metabolic disease |
| hereditary breast ovarian cancer syndrome | 0.72 | genetic, familial or congenital diseasecancer or benign tumor |
| neoplasm | 0.69 | cancer or benign tumor |
| BRCA1-related cancer predisposition | 0.68 | genetic, familial or congenital diseasecancer or benign tumor |
| Fanconi anemia complementation group I | 0.66 | hematologic diseasemusculoskeletal or connective tissue diseasenutritional or metabolic diseasegenetic, familial or congenital diseaseimmune system disease |
| Hereditary breast cancer | 0.66 | integumentary system diseasegenetic, familial or congenital diseasereproductive system or breast diseasecancer or benign tumor |
50 variants reported
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