G·CT·AG·CA·TG·CG·CC·GA·TG·CA·T
Xysera Locus
SourcesHuman / GRCh38
Gene/Homo sapiens

BRCA1

BRCA1 DNA repair associated

17q21.31chr17:43,044,292–43,170,245- strandGRCh38
Record assembledPartial sources
Type
Protein Coding
Chromosome
chr17
NCBI Gene ID
672
Ensembl Gene ID
ENSG00000012048
Aliases
BRCAI · BRCC1 · BROVCA1 · FANCS · IRIS · PNCA4 · PPP1R53 · PSCP · RNF53
Chromosome locatorchr17
BRCA1
pter · 0 Mb17q21.3183 Mb · qter
Partial recordPhenotype associations are temporarily unavailable.
01/

Gene structure

Source / Ensembl · GRCh38
23exons
125,954genomic bp
Viewing transcriptBRCA1-203
Transcript context59 isoforms
Displayed isoform
protein coding5,592 bp CDS
3′5′Exon 1: 43,044,295–43,045,802 (1,508 bp)EXON 143,044,295–43,045,802 · 1,508 bpExon 2: 43,047,643–43,047,703 (61 bp)EXON 243,047,643–43,047,703 · 61 bpExon 3: 43,049,121–43,049,194 (74 bp)EXON 343,049,121–43,049,194 · 74 bpExon 4: 43,051,063–43,051,117 (55 bp)EXON 443,051,063–43,051,117 · 55 bpExon 5: 43,057,052–43,057,135 (84 bp)EXON 543,057,052–43,057,135 · 84 bpExon 6: 43,063,333–43,063,373 (41 bp)EXON 643,063,333–43,063,373 · 41 bpExon 7: 43,063,874–43,063,951 (78 bp)EXON 743,063,874–43,063,951 · 78 bpExon 8: 43,067,608–43,067,695 (88 bp)EXON 843,067,608–43,067,695 · 88 bpExon 9: 43,070,928–43,071,238 (311 bp)EXON 943,070,928–43,071,238 · 311 bpExon 10: 43,074,331–43,074,521 (191 bp)EXON 1043,074,331–43,074,521 · 191 bpExon 11: 43,076,488–43,076,614 (127 bp)EXON 1143,076,488–43,076,614 · 127 bpExon 12: 43,082,404–43,082,575 (172 bp)EXON 1243,082,404–43,082,575 · 172 bpExon 13: 43,090,944–43,091,032 (89 bp)EXON 1343,090,944–43,091,032 · 89 bpExon 14: 43,091,435–43,094,860 (3,426 bp)EXON 1443,091,435–43,094,860 · 3,426 bpExon 15: 43,095,846–43,095,922 (77 bp)EXON 1543,095,846–43,095,922 · 77 bpExon 16: 43,097,244–43,097,289 (46 bp)EXON 1643,097,244–43,097,289 · 46 bpExon 17: 43,099,775–43,099,880 (106 bp)EXON 1743,099,775–43,099,880 · 106 bpExon 18: 43,104,122–43,104,261 (140 bp)EXON 1843,104,122–43,104,261 · 140 bpExon 19: 43,104,868–43,104,956 (89 bp)EXON 1943,104,868–43,104,956 · 89 bpExon 20: 43,106,456–43,106,533 (78 bp)EXON 2043,106,456–43,106,533 · 78 bpExon 21: 43,115,726–43,115,779 (54 bp)EXON 2143,115,726–43,115,779 · 54 bpExon 22: 43,124,017–43,124,115 (99 bp)EXON 2243,124,017–43,124,115 · 99 bpExon 23: 43,125,271–43,125,364 (94 bp)EXON 2343,125,271–43,125,364 · 94 bp43,044,29543,064,56243,084,83043,105,09743,125,364
Select an exon

Click an exon block to inspect its genomic coordinates and length.

CDS UTR / non-coding exon Intron · Proportional genomic coordinates

02/

Function

Source / NCBI Gene

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]

03/

Protein

Source / UniProtKB · Reviewed

Recommended name

Breast cancer type 1 susceptibility protein

Accession
P38398
Length
1,863 aa
Status
Reviewed
11863 aa
  • BRCT 11642–1736
  • BRCT 21756–1855
Functional annotations10 curated statements
  1. 01

    E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage.

  2. 02

    It is unclear whether it also mediates the formation of other types of polyubiquitin chains.

  3. 03

    The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability.

  4. 04

    Regulates centrosomal microtubule nucleation.

  5. 05

    Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle.

SourcesUniProtKB / P38398 ↗
Referenced literature

PMID 10500182 ↗PMID 12887909 ↗PMID 12890688 ↗PMID 14976165 ↗PMID 16818604 ↗PMID 17525340 ↗PMID 19261748 ↗PMID 20351172 ↗PMID 18056443 ↗PMID 10724175 ↗PMID 11836499 ↗PMID 12183412 ↗PMID 16326698 ↗PMID 19369211 ↗PMID 20160719 ↗

04/

Expression

Source / Human Protein Atlas
Top 10 consensus tissues
RNA expression · nTPM

Hover a bar for its exact value. Linear scale preserves proportional differences. · HPA consensus tissue dataset.

05/

Associated conditions

Source / Ensembl Phenotypes
No phenotype associations were returned by the source.

Associations are reproduced from the named sources and do not independently establish causality. Not for clinical interpretation.

06/

Literature

Source / PubMed
  1. 2022
    BRCA1: An Endocrine and Metabolic Regulator.

    Werner H

    Frontiers in endocrinology · PMID 35432218

    ↗
  2. 2023
    Preneoplastic stromal cells promote BRCA1-mediated breast tumorigenesis.

    Nee K, Ma D, Nguyen QH, Pein M, Pervolarakis N, et al.

    Nature genetics · PMID 36914836

    ↗
  3. 2006
    BRCA1-mediated ubiquitylation.

    Boulton SJ

    Cell cycle (Georgetown, Tex.) · PMID 16861894

    ↗
  4. 2024
    EXO1 protects BRCA1-deficient cells against toxic DNA lesions.

    van de Kooij B, Schreuder A, Pavani R, Garzero V, Uruci S, et al.

    Molecular cell · PMID 38266640

    ↗
  5. 2025
    BRCA1 and BRCA2: from cancer susceptibility to synthetic lethality.

    Khalizieva A, Moser SC, Bouwman P, Jonkers J

    Genes & development · PMID 39510841

    ↗
07/

Sources & identifiers

Identity · function · literatureNCBIGene 672Coordinates · transcript · phenotypeEnsemblENSG00000012048Protein annotationUniProtKBP38398Research literaturePubMed5 selected records
Xysera Locus

Research and educational information only. Not medical advice.

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