| URN | urn:agi-llid:672 |
|---|---|
| Name | BRCA1 |
| Description | breast cancer 1, early onset |
| Connectivity | 529 |
| Notes | This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability and 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 BASC for BRCA1-associated genome surveillance complex. This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complex. 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 have been described for this gene but only some have had their full-length natures identified. |
| Swiss-Prot Accession | P38398 |
|---|---|
| Q3LRJ6 | |
| Q6IN79 | |
| Q05BZ9 | |
| Q1RMC1 | |
| Q3B890 | |
| Q3B891 | |
| Q3LRH8 | |
| Q3LRJ0 | |
| Q3YB49 | |
| Q3YB50 | |
| Q3YB52 | |
| Q3YB53 | |
| Q4EW25 | |
| Q5U3B7 | |
| Q5XLT4 | |
| Q5YLB2 | |
| Q64FK2 | |
| Q64FK3 | |
| Q6P671 | |
| Q7KYU6 | |
| Q7Z606 | |
| Q8IU58 | |
| Q8IZK2 | |
| Q8IZK4 | |
| Q92897 | |
| Q9NQR3 | |
| Q9UE29 | |
| A2A4Q4 | |
| Q6NV63 | |
| P48754 | |
| Q3UMS5 | |
| Q99LI1 | |
| Q9Z1D2 | |
| O54952 |
| Unigene ID | Hs.194143 |
|---|---|
| Mm.244975 | |
| Rn.48840 | |
| Rn.217584 |
| KEGG ID | hsa:672 |
|---|---|
| mmu:12189 | |
| rno:497672 |
| Swiss-Prot ID | BRCA1_HUMAN |
|---|---|
| BRCA1_RAT | |
| Q3LRJ6_HUMAN | |
| Q6IN79_HUMAN | |
| A2A4Q4_MOUSE | |
| Q6NV63_MOUSE |
| Cell Localization | Cytoplasm |
|---|---|
| Nucleus |
| GO ID | 0050681 |
|---|---|
| 0003684 | |
| 0019899 | |
| 0042802 | |
| 0046872 | |
| 0003713 | |
| 0015631 | |
| 0004842 | |
| 0008270 | |
| 0006978 | |
| 0008630 | |
| 0006260 | |
| 0030521 | |
| 0007098 | |
| 0043009 | |
| 0007059 | |
| 0009048 | |
| 0000724 | |
| 0045786 | |
| 0046600 | |
| 0045717 | |
| 0016481 | |
| 0045739 | |
| 0031398 | |
| 0045893 | |
| 0006301 | |
| 0042981 | |
| 0042127 | |
| 0006357 | |
| 0006359 | |
| 0006974 | |
| 0043627 | |
| 0031436 | |
| 0000793 | |
| 0005737 | |
| 0008274 | |
| 0005622 | |
| 0005654 | |
| 0005634 | |
| 0000151 | |
| 0003677 | |
| 0003723 | |
| 0005515 | |
| 0006281 | |
| 0007049 | |
| 0051298 | |
| 0006633 | |
| 0008610 | |
| 0005813 | |
| 0030529 | |
| 0007420 | |
| 0033993 | |
| 0007584 | |
| 0010033 | |
| 0005759 | |
| 0003674 | |
| 0000075 | |
| 0005575 |
| Pathway | PPARG Targets |
|---|---|
| VDR Targets |
| IPI ID | IPI00218982 |
|---|---|
| IPI00375507 | |
| IPI00027277 | |
| IPI00909467 | |
| IPI00185298 | |
| IPI00873929 | |
| IPI00027268 | |
| IPI00027272 | |
| IPI00027273 | |
| IPI00297234 | |
| IPI00375509 | |
| IPI00331711 | |
| IPI00421063 | |
| IPI00202716 |
| Ariadne Ontology | Microtubule cytoskeleton assembly |
|---|---|
| Centrosome separation | |
| Centriole duplication |
| Mouse chromosome position | 11 60.5 cM |
|---|
| GO Molecular Function | protein binding |
|---|---|
| metal ion binding | |
| zinc ion binding | |
| RNA binding | |
| DNA binding | |
| damaged DNA binding | |
| enzyme binding | |
| identical protein binding | |
| tubulin binding | |
| androgen receptor binding | |
| transcription coactivator activity | |
| ubiquitin-protein ligase activity |
| Homologene ID | 5276 |
|---|
| Hugo ID | 1100 |
|---|
| GO Cellular Component | intracellular |
|---|---|
| ubiquitin ligase complex | |
| ribonucleoprotein complex | |
| cytoplasm | |
| centrosome | |
| gamma-tubulin ring complex | |
| mitochondrial matrix | |
| nucleus | |
| nucleoplasm | |
| BRCA1-BARD1 complex | |
| condensed chromosome |
| MGI ID | 104537 |
|---|
| Human chromosome position | 17q21 |
|---|
| GO Biological Process | negative regulation of cell cycle |
|---|---|
| negative regulation of centriole replication | |
| negative regulation of transcription | |
| negative regulation of fatty acid biosynthetic process | |
| DNA damage response, signal transduction resulting in induction of apoptosis | |
| positive regulation of transcription, DNA-dependent | |
| positive regulation of protein ubiquitination | |
| positive regulation of DNA repair | |
| regulation of cell proliferation | |
| regulation of apoptosis | |
| regulation of transcription from RNA polymerase III promoter | |
| regulation of transcription from RNA polymerase II promoter | |
| DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | |
| androgen receptor signaling pathway | |
| dosage compensation, by inactivation of X chromosome | |
| chromosome segregation | |
| cell cycle | |
| centrosome cycle | |
| centrosome duplication | |
| DNA replication | |
| fatty acid biosynthetic process | |
| DNA repair | |
| double-strand break repair via homologous recombination | |
| postreplication repair | |
| brain development | |
| chordate embryonic development | |
| lipid biosynthetic process | |
| response to organic substance | |
| response to nutrient | |
| response to estrogen stimulus | |
| response to lipid | |
| response to DNA damage stimulus |
| Rat chromosome position | 10q32.1 |
|---|
| Group | Microtubule cytoskeleton assembly |
|---|---|
| Centrosome separation | |
| Centriole duplication | |
| intracellular | |
| ubiquitin ligase complex | |
| ribonucleoprotein complex | |
| cytoplasm | |
| centrosome | |
| gamma-tubulin ring complex | |
| mitochondrial matrix | |
| nucleus | |
| nucleoplasm | |
| BRCA1-BARD1 complex | |
| condensed chromosome | |
| protein binding | |
| metal ion binding | |
| zinc ion binding | |
| RNA binding | |
| DNA binding | |
| damaged DNA binding | |
| enzyme binding | |
| identical protein binding | |
| tubulin binding | |
| androgen receptor binding | |
| transcription coactivator activity | |
| ubiquitin-protein ligase activity | |
| negative regulation of cell cycle | |
| negative regulation of centriole replication | |
| negative regulation of transcription | |
| negative regulation of fatty acid biosynthetic process | |
| DNA damage response, signal transduction resulting in induction of apoptosis | |
| positive regulation of transcription, DNA-dependent | |
| positive regulation of protein ubiquitination | |
| positive regulation of DNA repair | |
| regulation of cell proliferation | |
| regulation of apoptosis | |
| regulation of transcription from RNA polymerase III promoter | |
| regulation of transcription from RNA polymerase II promoter | |
| DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | |
| androgen receptor signaling pathway | |
| dosage compensation, by inactivation of X chromosome | |
| chromosome segregation | |
| cell cycle | |
| centrosome cycle | |
| centrosome duplication | |
| DNA replication | |
| fatty acid biosynthetic process | |
| DNA repair | |
| double-strand break repair via homologous recombination | |
| postreplication repair | |
| brain development | |
| chordate embryonic development | |
| lipid biosynthetic process | |
| response to organic substance | |
| response to nutrient | |
| response to estrogen stimulus | |
| response to lipid | |
| response to DNA damage stimulus |
| RGD ID | 2218 |
|---|
| LocusLink ID | 672 |
|---|---|
| 12189 | |
| 497672 |
| Alias | IRIS |
|---|---|
| PSCP | |
| BRCAI | |
| BRCC1 | |
| RNF53 | |
| BROVCA1 | |
| breast cancer 1, early onset | |
| BRCA1/BRCA2-containing complex, subunit 1 | |
| breast and ovarian cancer susceptibility protein 1 | |
| RP23-328K2.8 | |
| breast cancer 1 | |
| OTTMUSP00000002773 | |
| Brca1 | |
| Breast cancer type 1 susceptibility protein | |
| breast-ovarian cancer, included | |
| isoform BRCA1-delta11 | |
| isoform BRCA1-delta11b | |
| isoform BRCA1-delta14-17 | |
| isoform BRCA1-delta15-17 | |
| isoform BRCA1-delta2-10 | |
| isoform BRCA1-delta9-10-11b | |
| isoform BRCA1-delta9-11 | |
| BRCA1-exon4 | |
| BRC1_HUMAN | |
| breast cancer I | |
| isoform BRCA1-delta14-18 | |
| Brca I | |
| BRC1 | |
| isoform BRCA1-delta9 XI | |
| isoform BRCA1-delta2 X | |
| isoform BRCA1-delta9 X | |
| BRC I | |
| breast and ovarian cancer susceptibility protein I | |
| brca1b | |
| isoform BRCA1-delta9-10 | |
| BRCA1a | |
| Brca1 sup m1Uwm /sup | |
| LOC360245 | |
| breast cancer 1, mutation 1, University of Wisconsin-Madison | |
| isoform BRCA1-exon4 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 113705 |
|---|---|
| 604370 |