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 | reproductive system or breast diseasecancer or benign tumor |
| Hereditary breast and ovarian cancer syndrome | 0.83 | genetic, familial or congenital diseasereproductive system or breast diseasecancer or benign tumorendocrine system disorder |
| Fanconi anemia, complementation group S | 0.82 | immune system disorderhematologic disordergenetic, familial or congenital diseasenutritional or metabolic diseasemusculoskeletal or connective tissue diseasephenotype |
| ovarian cancer | 0.81 | endocrine system disorderreproductive system or breast diseasecancer or benign tumor |
| breast neoplasm | 0.80 | reproductive system or breast diseasecancer or benign tumor |
| breast-ovarian cancer, familial, susceptibility to, 1 | 0.80 | genetic, familial or congenital diseasecancer or benign tumor |
| cancer | 0.78 | cancer or benign tumor |
| breast carcinoma | 0.74 | reproductive system or breast diseasecancer or benign tumor |
| hereditary breast ovarian cancer syndrome | 0.71 | genetic, familial or congenital diseasecancer or benign tumor |
| Fanconi anemia complementation group A | 0.71 | immune system disorderhematologic disordergenetic, familial or congenital diseasenutritional or metabolic diseasemusculoskeletal or connective tissue diseasephenotype |
| neoplasm | 0.69 | cancer or benign tumor |
| BRCA1-related cancer predisposition | 0.68 | genetic, familial or congenital diseasecancer or benign tumor |
| hereditary breast carcinoma | 0.67 | genetic, familial or congenital diseasereproductive system or breast diseasecancer or benign tumor |
| Hereditary breast cancer | 0.66 | genetic, familial or congenital diseasereproductive system or breast diseasecancer or benign tumor |
| pancreatic cancer, susceptibility to, 4 | 0.66 | genetic, familial or congenital diseasecancer or benign tumor |
50 variants reported
| Variant | Significance | Review | Conditions |
|---|---|---|---|
| NC_000017.10:g.(41234593_41242960)_(41243050_41243451)del | Pathogenic | Hereditary breast ovarian cancer syndrome | |
| NC_000017.10:g.(41243050_41243451)_(41251898_41256138)del | Pathogenic | Hereditary breast ovarian cancer syndrome | |
| GRCh38/hg38 17q21.31(chr17:43057598-43068066)x1 | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.241_256del (p.Gln81fs) | Pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.5152+6del | Uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.3306T>A (p.Asn1102Lys) | Uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.4210C>A (p.Leu1404Met) | Uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.726_727del (p.Ser242fs) | Pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.3114del (p.Ala1039fs) | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.134+5del | VUS-high | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.5246_5248del (p.Pro1749_Lys1750delinsGln) | Uncertain significance | Hereditary breast ovarian cancer syndrome | |
| NM_007294.4(BRCA1):c.4945_4946insTTTT (p.Arg1649fs) | Likely pathogenic | Hereditary breast ovarian cancer syndrome | |
| NM_007294.4(BRCA1):c.451del (p.Ser151fs) | Pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.661G>A (p.Ala221Thr) | Likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.1014_1015delinsT (p.Lys338fs) | Pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.1611_1612delinsAAA (p.Asn537fs) | Pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.4698_4699del (p.Gly1567fs) | Pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.834_840del (p.His279fs) | Pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| NM_007294.4(BRCA1):c.1699_1700del (p.Asn567fs) | Pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1Hereditary breast ovarian cancer syndrome | |
| NM_007294.4(BRCA1):c.2850_2851del (p.Arg951fs) | Pathogenic | Inherited ovarian cancer (without breast cancer) |
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.