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Gene: BRCA1 (BRCA1 DNA repair associated) Homo sapiens

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Symbol:

BRCA1

Name:

BRCA1 DNA repair associated

RGD ID:

69132

HGNC Page

HGNC:1100

Description:

Enables several functions, including enzyme binding activity; nucleic acid binding activity; and p53 binding activity. Involved in several processes, including DNA repair; protein ubiquitination; and regulation of primary metabolic process. Acts upstream of with a positive effect on negative regulation of gene expression via chromosomal CpG island methylation. Acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage. Located in cytoplasm; nuclear lumen; and plasma membrane. Part of DNA repair complex; nucleus; and ribonucleoprotein complex. Is active in intracellular membraneless organelle. Implicated in several diseases, including Fanconi anemia complementation group S; breast cancer (multiple); cervix uteri carcinoma in situ; gastrointestinal system cancer (multiple); and reproductive organ cancer (multiple). Biomarker of breast cancer (multiple); gastrointestinal system cancer (multiple); and lung non-small cell carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously 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

RGD Orthologs

Alliance Orthologs

More Info

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More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Brca1 (breast cancer 1, early onset)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Rattus norvegicus (Norway rat):	Brca1 (BRCA1, DNA repair associated)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Brca1 (BRCA1 DNA repair associated)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	BRCA1 (BRCA1 DNA repair associated)	NCBI	Ortholog
Canis lupus familiaris (dog):	BRCA1 (BRCA1 DNA repair associated)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Brca1 (BRCA1 DNA repair associated)	NCBI	Ortholog
Sus scrofa (pig):	BRCA1 (BRCA1 DNA repair associated)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	BRCA1 (BRCA1 DNA repair associated)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Brca1 (BRCA1 DNA repair associated)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Brca1 (BRCA1, DNA repair associated)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Brca1 (breast cancer 1, early onset)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	brc-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoInspector\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	brca1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER)
Xenopus laevis (African clawed frog):	brca1.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

BRCA1P1

Allele / Splice:

See ClinVar data

Candidate Gene For:

PRSTS128_H PRSTS133_H PRSTS123_H MAMTS45_H

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	43,044,295 - 43,170,327 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	43,044,295 - 43,170,245 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	41,196,312 - 41,322,344 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	38,449,840 - 38,530,994 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	38,449,843 - 38,530,934	NCBI
Celera	17	37,853,171 - 37,934,354 (-)	NCBI		Celera
Cytogenetic Map	17	q21.31	NCBI
HuRef	17	36,962,663 - 37,043,809 (-)	NCBI		HuRef
CHM1_1	17	41,431,851 - 41,513,018 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	43,902,857 - 44,029,084 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar