BRCA1

Information BRCA1

Description

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. 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 2020]

Full Name

BRCA1 DNA repair associated

Source NCBI

Species

Homo sapiens [tax_id: 9606]

Genome

hg38

ReMap Statistics

Datasets
11
Biotypes
10
Peaks
94,361
Non-redundant peaks
68,020

TF Classification

Super Class
NA
Class
NA
Familly
NA
Sub Familly
NA

Source TFClass

External IDs

NCBI Gene
672
Official Gene Name
BRCA1
JASPAR
Ensembl
ENSG00000012048
UniProt
P38398
Genevisible
P38398
RefSeq
NM_007294
Aliases
BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4; PPP1R53; PSCP; RNF53
All peaks BRCA1
Download BED file
Non redundant peaks BRCA1
Download BED file
SEQUENCES BRCA1
Download FASTA file
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Datasets Table for BRCA1

Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks
BRCA1 SH-EP pWZL-MYCNwt GEO Homo sapiens GSE111905 10,827
BRCA1 SH-EP MYCNER_plusOHT GEO Homo sapiens GSE111905 12,280
BRCA1 MCF-10A GEO Homo sapiens GSE40591 16,326
BRCA1 WA01 ENCODE Homo sapiens ENCSR000EBX 2,359
BRCA1 K-562 ENCODE Homo sapiens ENCSR223MLH 25,914
BRCA1 Hep-G2 ENCODE Homo sapiens ENCSR000EDY 4,011
BRCA1 A-549 ENCODE Homo sapiens ENCSR857KDI 2,325
BRCA1 TC-32 GEO Homo sapiens GSE87324 3,258
BRCA1 GM12878 ENCODE Homo sapiens ENCSR000DZS 486
BRCA1 U2OS GEO Homo sapiens GSE87324 3,569
BRCA1 HeLa-S3 ENCODE Homo sapiens ENCSR000EDB 13,006
Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks