| Gene Information | |
|---|---|
| Gene Name | BRCA1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1863 |
| Protein Names | Breast cancer type 1 susceptibility protein (EC 2.3.2.27) (RING finger protein 53) (RING-type E3 ubiquitin transferase BRCA1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 18 ( ENSG00000012048 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | P38398 |
| Gene Card | BRCA1 |
| Uniprot ID | P38398 |
| Pfam | PF00533; PF12820; PF00097 |
| In ASD | no |
| Allosteric Prediction | yes (0.602716258) |
| Ortholog in Animals | Alpaca_ BRCA1 ( ortholog_one2one ) Dog_ BRCA1 ( ortholog_one2one ) Macaque_ BRCA1 ( ortholog_one2one ) Mouse_ Brca1 ( ortholog_one2one ) Pig_ BRCA1 ( ortholog_one2one ) Rat_ Brca1 ( ortholog_one2one ) Rabbit_ BRCA1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.150722(Rat);0.056159(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 1JM7 (NMR - ) 1JNX (X-ray 2.50A ) 1N5O (X-ray 2.80A ) 1OQA (NMR - ) 1T15 (X-ray 1.85A ) 1T29 (X-ray 2.30A ) 1T2U (X-ray 2.80A ) 1T2V (X-ray 3.30A ) 1Y98 (X-ray 2.50A ) 2ING (X-ray 3.60A ) 3COJ (X-ray 3.21A ) 3K0H (X-ray 2.70A ) 3K0K (X-ray 2.70A ) 3K15 (X-ray 2.80A ) 3K16 (X-ray 3.00A ) 3PXA (X-ray 2.55A ) 3PXB (X-ray 2.50A ) 3PXC (X-ray 2.80A ) 3PXD (X-ray 2.80A ) 3PXE (X-ray 2.85A ) 4IFI (X-ray 2.20A ) 4IGK (X-ray 1.75A ) 4JLU (X-ray 3.50A ) 4OFB (X-ray 3.05A ) 4U4A (X-ray 3.51A ) 4Y18 (X-ray 3.50A ) 4Y2G (X-ray 2.50A ) 6G2I (EM 5.90A ) 7JZV (EM 3.90A ) 7LYB (EM 3.28A ) |
| DBSNP | rs786203152 rs80357017 rs80356929 rs80357406 rs80357438 rs769650474 rs28897672 rs80357064 rs55851803 rs80357102 rs80356913 rs28897673 rs80357413 rs55971303 rs748876625 rs28897674 rs80357325 rs55688530 rs80357090 rs80357001 rs80357396 rs80356865 rs28897675 rs80357244 rs80357244 rs8176153 rs80357015 rs1799950 rs80358325 rs56128296 rs56046357 rs397508869 rs80357224 rs397508893 rs80357250 rs4986850 rs28897681 rs4986845 rs80357114 rs80357467 rs876660005 rs28897682 rs56082113 rs28897683 rs751656678 rs80357337 rs1800709 rs80356892 rs41286300 rs799917 rs80357480 rs397508994 rs4986847 rs397509022 rs4986848 rs1800704 rs397509034 rs16941 rs4986852 rs397509037 rs80357184 rs41293447 rs80357228 rs2227945 rs80357272 rs16942 rs56214134 rs1060502347 rs80356923 rs80356876 rs28897687 rs28897686 rs587782190 rs80357217 rs1450793674 rs273900719 rs80357407 rs28897689 rs28897690 rs80357306 rs1800707 rs80357492 rs273900729 rs41293455 rs4986849 rs80357486 rs397507232 rs80357389 rs1800744 rs55815649 rs56158747 rs80356943 rs1799966 rs8176219 rs80356862 rs4986854 rs80357465 rs80357048 rs1800726 rs80356938 rs879254042 rs1799967 rs80357390 rs28897695 rs80357169 rs80356890 rs80357043 rs397509218 rs730882166 rs80358344 rs80357061 rs397507239 rs80357034 rs80187739 rs80356993 rs41293459 rs55770810 rs80356860 rs80356860 rs28897696 rs80357094 rs80357239 rs56195342 rs397509238 rs45553935 rs80356937 rs80357227 rs80357227 rs786202389 rs80357462 rs397509246 rs80357281 rs80357463 rs1597804426 rs863224765 rs41293463 rs41293463 rs1800757 rs80357474 rs398122697 rs80357069 rs80357078 rs397509275 rs80356920 rs1800751 rs80356959 rs80357183 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:15133502, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:21144835, ECO:0000269|PubMed:26778126, ECO:0000269|PubMed:9528852}. Chromosome {ECO:0000269|PubMed:23269703, ECO:0000269|PubMed:25472942, ECO:0000269|PubMed:26778126}. Cytoplasm {ECO:0000269|PubMed:20160719}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by ABRAXAS1 and the BRCA1-A complex (PubMed:26778126). Translocated to the cytoplasm during UV-induced apoptosis (PubMed:20160719). {ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:26778126}.; [Isoform 3]: Cytoplasm.; [Isoform 5]: Cytoplasm {ECO:0000269|PubMed:8972225}. |
| Mouse PG classification | LPG |
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