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Gene: BRCA1 (BRCA1 DNA repair associated) Homo sapiens
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Symbol: BRCA1
Name: BRCA1 DNA repair associated
Description: Exhibits several functions, including enzyme binding activity; nucleic acid binding activity; and transcription coactivator activity. Involved in several processes, including protein ubiquitination; regulation of histone modification; and regulation of nucleobase-containing compound metabolic process. Localizes to several cellular components, including the nucleus; plasma membrane; and ribonucleoprotein complex. Implicated in several diseases, including cervix uteri carcinoma in situ; colon cancer; hereditary breast ovarian cancer syndrome; reproductive organ cancer (multiple); and urinary bladder cancer. Biomarker of breast cancer and breast carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BRCA1, DNA repair associated; BRCA1/BRCA2-containing complex, subunit 1; BRCAI; BRCC1; breast and ovarian cancer susceptibility protein 1; breast cancer 1; breast cancer 1, early onset; breast cancer type 1 susceptibility protein; BROVCA1; early onset breast cancer 1; Fanconi anemia, complementation group S; FANCS; IRIS; PNCA4; PPP1R53; protein phosphatase 1, regulatory subunit 53; PSCP; RING finger protein 53; RNF53; truncated BRCA1; truncated breast and ovarian cancer susceptibility protein 1; truncated breast cancer 1
Orthologs:
Mus musculus (house mouse) : Brca1 (breast cancer 1, early onset)  MGI  Alliance
Rattus norvegicus (Norway rat) : Brca1 (BRCA1, DNA repair associated)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Brca1 (BRCA1 DNA repair associated)
Pan paniscus (bonobo/pygmy chimpanzee) : BRCA1 (BRCA1 DNA repair associated)
Canis lupus familiaris (dog) : BRCA1 (BRCA1 DNA repair associated)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Brca1 (BRCA1 DNA repair associated)
Sus scrofa (pig) : BRCA1 (BRCA1 DNA repair associated)
more info ...
Related Pseudogenes: BRCA1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381743,044,295 - 43,125,364 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371741,196,312 - 41,277,500 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361738,449,840 - 38,530,994 (-)NCBINCBI36hg18NCBI36
Build 341738,449,843 - 38,530,934NCBI
Celera1737,853,171 - 37,934,354 (-)NCBI
Cytogenetic Map17q21.31NCBI
HuRef1736,962,663 - 37,043,809 (-)NCBIHuRef
CHM1_11741,431,851 - 41,513,018 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model

Annotation    (Toggle Annotation Detail/Summary View)