| URN | urn:agi-llid:672 |
|---|---|
| Total Entities | 0 |
| Connectivity | 2019 |
| Name | BRCA1 |
| Description | breast cancer 1, early onset |
| Notes | This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also 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 the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. 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, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009] |
| GO Molecular Function | transcription coactivator activity |
|---|---|
| ligase activity | |
| ubiquitin-protein ligase activity | |
| enzyme binding | |
| androgen receptor binding | |
| ubiquitin protein ligase binding | |
| tubulin binding | |
| RNA binding | |
| DNA binding | |
| damaged DNA binding | |
| transcription regulatory region DNA binding | |
| metal ion binding | |
| zinc ion binding |
| GO Cellular Component | BRCA1-A complex |
|---|---|
| nucleoplasm | |
| BRCA1-BARD1 complex | |
| condensed nuclear chromosome | |
| mitochondrial matrix | |
| filamentous actin | |
| gamma-tubulin ring complex | |
| centrosome | |
| ribonucleoprotein complex | |
| protein complex | |
| ubiquitin ligase complex | |
| plasma membrane | |
| cytoplasm | |
| chromosome | |
| condensed chromosome | |
| nucleus | |
| ruffle | |
| focal adhesion |
| GO Biological Process | lipid metabolic process |
|---|---|
| DNA repair | |
| postreplication repair | |
| positive regulation of DNA repair | |
| double-strand break repair | |
| double-strand break repair via homologous recombination | |
| fatty acid biosynthetic process | |
| negative regulation of fatty acid biosynthetic process | |
| positive regulation of histone acetylation | |
| negative regulation of histone acetylation | |
| positive regulation of histone H4-K16 acetylation | |
| positive regulation of histone H3-K9 acetylation | |
| negative regulation of histone H3-K9 methylation | |
| negative regulation of histone H3-K4 methylation | |
| positive regulation of histone H3-K9 methylation | |
| positive regulation of histone H3-K4 methylation | |
| positive regulation of histone H4-K20 methylation | |
| fatty acid metabolic process | |
| brain development | |
| chordate embryonic development | |
| substrate adhesion-dependent cell spreading | |
| cell cycle | |
| chromosome segregation | |
| centrosome duplication | |
| centrosome cycle | |
| negative regulation of centriole replication | |
| G2 DNA damage checkpoint | |
| positive regulation of cell cycle arrest | |
| intrinsic apoptotic signaling pathway in response to DNA damage | |
| DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | |
| androgen receptor signaling pathway | |
| regulation of cell motility | |
| apoptotic process | |
| regulation of apoptotic process | |
| regulation of cell proliferation | |
| response to organic substance | |
| response to nutrient | |
| response to estradiol | |
| cellular response to indole-3-methanol | |
| response to lipid | |
| response to estrogen | |
| cellular response to DNA damage stimulus | |
| response to ionizing radiation | |
| positive regulation of transcription, DNA-templated | |
| positive regulation of transcription from RNA polymerase II promoter | |
| positive regulation of protein ubiquitination | |
| negative regulation of transcription, DNA-templated | |
| regulation of transcription from RNA polymerase III promoter | |
| regulation of transcription from RNA polymerase II promoter | |
| regulation of DNA methylation | |
| regulation of gene expression by genetic imprinting | |
| dosage compensation by inactivation of X chromosome | |
| DNA recombination | |
| DNA replication | |
| protein ubiquitination | |
| protein autoubiquitination | |
| protein K6-linked ubiquitination |
| Pathway | Histone Acetylation |
|---|---|
| Histone Ubiquitylation | |
| Cell Cycle | |
| Double Strand DNA Homologous Repair | |
| RNase L Signaling in Prostate Cancer | |
| Hereditary Breast and Ovarian Cancer Syndrome | |
| ESR1/ERBB-positive Luminal Breast Cancer | |
| Basal Breast Cancer | |
| Clear Cell Ovarian Carcinoma | |
| Proteins Involved in Pathogenesis of Clear Cell Ovarian Carcinoma | |
| High-grade Serous Ovarian Carcinoma | |
| Proteins Involved in Pathogenesis of Mucinous Ovarian Carcinoma | |
| Proteins Involved in Pathogenesis of High-grade Serous Ovarian Carcinoma | |
| Proteins Involved in Pathogenesis of Endometrioid Ovarian Carcinoma | |
| Ovarian Cancer Overview | |
| Proteins Involved in Pathogenesis of Low-grade Serous Ovarian Carcinoma | |
| Type I Endometrial Cancer (Endometrioid Endometrial Cancer) | |
| Endometrial Cancer Overview | |
| Proteins Involved in Pathogenesis of Prostate Cancer | |
| Block of DNA Repair and Chromatin Remodeling in Pancreatic Cancer | |
| TGFBR Signaling in Pancreatic Cancer | |
| Pancreatic Ductal Carcinoma | |
| Proteins Involved in Pathogenesis of Pancreatic Cancer | |
| Pancreatic Neuroendocrine Tumors | |
| NRG1/Catenin Expression Targets | |
| NRG1/STAT Expression Targets | |
| NRG1/AP-1/ATF Expression Targets | |
| NRG1/EP300/ETS/ETV/SP1 Expression Targets | |
| NRG1/CREB/CREBBP/ELK-SRF/MYC Expression Targets | |
| TGFB1-TGFBR1 Expression Targets | |
| ataxia telangiectasia-mutated (ATM) signaling pathway | |
| homologous recombination pathway of double-strand break repair | |
| Copy of 'ataxia telangiectasia-mutated (ATM) signaling pathway' |
| Group | Centriole duplication |
|---|---|
| Centrosome separation | |
| Microtubule cytoskeleton assembly | |
| lipid metabolic process | |
| DNA repair | |
| postreplication repair | |
| positive regulation of DNA repair | |
| double-strand break repair | |
| double-strand break repair via homologous recombination | |
| fatty acid biosynthetic process | |
| negative regulation of fatty acid biosynthetic process | |
| positive regulation of histone acetylation | |
| negative regulation of histone acetylation | |
| positive regulation of histone H4-K16 acetylation | |
| positive regulation of histone H3-K9 acetylation | |
| negative regulation of histone H3-K9 methylation | |
| negative regulation of histone H3-K4 methylation | |
| positive regulation of histone H3-K9 methylation | |
| positive regulation of histone H3-K4 methylation | |
| positive regulation of histone H4-K20 methylation | |
| fatty acid metabolic process | |
| brain development | |
| chordate embryonic development | |
| substrate adhesion-dependent cell spreading | |
| cell cycle | |
| chromosome segregation | |
| centrosome duplication | |
| centrosome cycle | |
| negative regulation of centriole replication | |
| G2 DNA damage checkpoint | |
| positive regulation of cell cycle arrest | |
| intrinsic apoptotic signaling pathway in response to DNA damage | |
| DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | |
| androgen receptor signaling pathway | |
| regulation of cell motility | |
| apoptotic process | |
| regulation of apoptotic process | |
| regulation of cell proliferation | |
| response to organic substance | |
| response to nutrient | |
| response to estradiol | |
| cellular response to indole-3-methanol | |
| response to lipid | |
| response to estrogen | |
| cellular response to DNA damage stimulus | |
| response to ionizing radiation | |
| positive regulation of transcription, DNA-templated | |
| positive regulation of transcription from RNA polymerase II promoter | |
| positive regulation of protein ubiquitination | |
| negative regulation of transcription, DNA-templated | |
| transcription coactivator activity | |
| regulation of transcription from RNA polymerase III promoter | |
| regulation of transcription from RNA polymerase II promoter | |
| regulation of DNA methylation | |
| regulation of gene expression by genetic imprinting | |
| dosage compensation by inactivation of X chromosome | |
| ligase activity | |
| ubiquitin-protein ligase activity | |
| DNA recombination | |
| DNA replication | |
| protein ubiquitination | |
| protein autoubiquitination | |
| protein K6-linked ubiquitination | |
| enzyme binding | |
| androgen receptor binding | |
| ubiquitin protein ligase binding | |
| tubulin binding | |
| RNA binding | |
| DNA binding | |
| damaged DNA binding | |
| transcription regulatory region DNA binding | |
| metal ion binding | |
| zinc ion binding | |
| BRCA1-A complex | |
| nucleoplasm | |
| BRCA1-BARD1 complex | |
| condensed nuclear chromosome | |
| mitochondrial matrix | |
| filamentous actin | |
| gamma-tubulin ring complex | |
| centrosome | |
| ribonucleoprotein complex | |
| protein complex | |
| ubiquitin ligase complex | |
| plasma membrane | |
| cytoplasm | |
| chromosome | |
| condensed chromosome | |
| nucleus | |
| ruffle | |
| focal adhesion | |
| Genes with Mutations Associated with Hereditary Breast and Ovarian Cancer Syndrome | |
| Genes with Mutations Associated with Breast Cancer | |
| Genes with Mutations Associated with Ovarian Cancer | |
| Proteins Involved in Pathogenesis of Hereditary Breast and Ovarian Cancer Syndrome | |
| Genes with Mutations Associated with Prostate Cancer | |
| Genes with Mutations Associated with Pancreatic Cancer | |
| Secreted proteins | |
| Biofluids assayable substances |
| LocusLink ID | 672 |
|---|---|
| 12189 | |
| 497672 |
| Cell Localization | Cytoplasm |
|---|---|
| Nucleus | |
| Chromosome |
| GO ID | 0003677 |
|---|---|
| 0003723 | |
| 0050681 | |
| 0019899 | |
| 0003713 | |
| 0044212 | |
| 0015631 | |
| 0031625 | |
| 0004842 | |
| 0008270 | |
| 0006978 | |
| 0006281 | |
| 0031572 | |
| 0030521 | |
| 0006915 | |
| 0006974 | |
| 0071681 | |
| 0007059 | |
| 0006302 | |
| 0000724 | |
| 0006633 | |
| 0008630 | |
| 0046600 | |
| 0045717 | |
| 0051573 | |
| 0045892 | |
| 0045739 | |
| 0071158 | |
| 0051571 | |
| 2000617 | |
| 2000620 | |
| 0070512 | |
| 0035066 | |
| 0031398 | |
| 0045944 | |
| 0045893 | |
| 0006301 | |
| 0085020 | |
| 0051865 | |
| 0016567 | |
| 0042981 | |
| 2000145 | |
| 0042127 | |
| 0006357 | |
| 0006359 | |
| 0043627 | |
| 0010212 | |
| 0034446 | |
| 0070531 | |
| 0031436 | |
| 0005694 | |
| 0031941 | |
| 0005925 | |
| 0008274 | |
| 0005654 | |
| 0005634 | |
| 0005886 | |
| 0043234 | |
| 0030529 | |
| 0001726 | |
| 0000151 | |
| 0003684 | |
| 0016874 | |
| 0046872 | |
| 0006310 | |
| 0006260 | |
| 0007049 | |
| 0007098 | |
| 0051298 | |
| 0043009 | |
| 0009048 | |
| 0006631 | |
| 0006629 | |
| 0051572 | |
| 0035067 | |
| 0051574 | |
| 0044030 | |
| 0006349 | |
| 0005813 | |
| 0000793 | |
| 0000794 | |
| 0005737 | |
| 0005759 | |
| 0007420 | |
| 0032355 | |
| 0033993 | |
| 0007584 | |
| 0010033 |
| Alias | IRIS |
|---|---|
| PSCP | |
| BRCAI | |
| BRCC1 | |
| PNCA4 | |
| RNF53 | |
| BROVCA1 | |
| PPP1R53 | |
| breast cancer type 1 susceptibility protein | |
| RING finger protein 53 | |
| BRCA1/BRCA2-containing complex, subunit 1 | |
| protein phosphatase 1, regulatory subunit 53 | |
| breast and ovarian cancer susceptibility protein 1 | |
| breast and ovarian cancer sususceptibility protein 1 | |
| RP23-328K2.8 | |
| breast cancer type 1 susceptibility protein homolog | |
| breast cancer associated 1 | |
| OTTHUMP00000212147 | |
| LOC360245 | |
| isoform BRCA1-delta9-11 | |
| isoform BRCA1-delta9-10-11b | |
| isoform BRCA1-delta9-10 | |
| isoform BRCA1-delta9 XI | |
| isoform BRCA1-delta9 X | |
| OTTHUMP00000212148 | |
| isoform BRCA1-delta2 X | |
| isoform BRCA1-delta15-17 | |
| isoform BRCA1-delta2-10 | |
| OTTHUMP00000212149 | |
| OTTHUMP00000212150 | |
| OTTHUMP00000212151 | |
| OTTMUSP00000002773 | |
| isoform BRCA1-delta11b | |
| OTTHUMP00000212155 | |
| BRC1 | |
| isoform BRCA1-delta14-18 | |
| isoform BRCA1-delta14-17 | |
| BRC I | |
| BRC1_HUMAN | |
| BRCA I | |
| BRCA1 | |
| Brca1 sup m1Uwm /sup | |
| Brca1<sup>m1Uwm</sup> | |
| BRCA1a | |
| BRCA1b | |
| BRCA1-exon4 | |
| breast cancer-1 | |
| isoform BRCA1-delta11 | |
| breast cancer 1, mutation 1, University of Wisconsin-Madison | |
| breast cancer 1, early onset | |
| breast cancer 1 | |
| breast and ovarian cancer susceptibility protein I |
| Mouse chromosome position | 11 65.18 cM |
|---|---|
| 11 60.5 cM |
| OMIM ID | 113705 |
|---|---|
| 604370 | |
| 114480 | |
| 614320 |
| Rat chromosome position | 10q32.1 |
|---|
| Hugo ID | 1100 |
|---|
| Human chromosome position | 17q21 |
|---|
| Swiss-Prot Accession | P38398 |
|---|---|
| E9PFZ0 | |
| E9PFC7 | |
| Q1RMC1 | |
| P48754 | |
| Q6NV63 | |
| O54952 | |
| P97951 | |
| A2A4Q4 | |
| Q60957 | |
| Q60983 | |
| O15129 | |
| Q3LRJ0 | |
| Q3LRJ6 | |
| Q6IN79 | |
| Q7KYU9 | |
| E7ETR2 | |
| J3KQF3 |
| PIR ID | I49350 |
|---|---|
| A58881 |
| Unigene ID | Hs.194143 |
|---|---|
| Mm.244975 | |
| Rn.48840 | |
| Rn.217584 |
| KEGG ID | hsa:672 |
|---|---|
| mmu:12189 | |
| rno:497672 |
| Swiss-Prot ID | BRCA1_RAT |
|---|---|
| BRCA1_MOUSE | |
| BRCA1_HUMAN |
| EC Number | 6.3.2.- |
|---|
| Ensembl ID | ENSG00000012048 |
|---|---|
| ENSP00000350283 | |
| ENST00000357654 | |
| ENSP00000418775 | |
| ENST00000493795 | |
| ENSP00000312236 | |
| ENST00000352993 | |
| ENSP00000417148 | |
| ENST00000468300 | |
| ENSP00000418960 | |
| ENST00000471181 | |
| ENSMUSG00000017146 | |
| ENSMUSP00000017290 | |
| ENSMUST00000017290 | |
| ENSRNOG00000020701 | |
| ENSRNOP00000028109 | |
| ENSRNOT00000028109 |
| Homologene ID | 5276 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 104537 |
|---|
| RGD ID | 2218 |
|---|
| MedScan ID | 672 |
|---|
| Primary Cell Localization | Cytoplasm |
|---|---|
| Nucleus |
| IPI ID | IPI00331711 |
|---|---|
| IPI00421063 | |
| IPI00202716 | |
| IPI00027272 | |
| IPI00027277 | |
| IPI00185298 | |
| IPI00218982 | |
| IPI00909467 | |
| IPI00945705 |