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    BRCA1 BRCA1 DNA repair associated [ Homo sapiens (human) ]

    Gene ID: 672, updated on 19-Jul-2021

    Summary

    Official Symbol
    BRCA1provided by HGNC
    Official Full Name
    BRCA1 DNA repair associatedprovided by HGNC
    Primary source
    HGNC:HGNC:1100
    See related
    Ensembl:ENSG00000012048 MIM:113705
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IRIS; PSCP; BRCAI; BRCC1; FANCS; PNCA4; RNF53; BROVCA1; PPP1R53
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 5.2), lymph node (RPKM 3.3) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BRCA1 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (43044295..43125364, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41196312..41277381, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene vesicle amine transport 1 Neighboring gene Rho family GTPase 2 Neighboring gene ribosomal protein L21 pseudogene 4 Neighboring gene BRCA1 intronic recombination region Neighboring gene BRCA1 intron 2 regulatory region Neighboring gene BRCA1 promoter region Neighboring gene neighbor of BRCA1 lncRNA 2 Neighboring gene uncharacterized LOC101929767 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 29 Neighboring gene BRCA1P1 intergenic recombination region

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of breast cancer 1, early onset (BRCA1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat associates with BRCA1 in cells and the amino-acid 504-802 region of BRCA1 physically interacts with HIV-1 Tat PubMed
    tat BRCA1 enhances HIV-1 Tat-dependent transcription in cells, and BRCA1 phosphorylation at positions S1387, S1423, S1457, and S1524 is important for the enhancement of Tat-dependent transcription PubMed
    Vpr vpr HIV-1 Vpr stimulates the focus formation of Rad51 and BRCA1, which are involved in repair of DNA double-strand breaks (DSBs) by homologous recombination (HR) PubMed
    vpr HIV-1 Vpr induces phosphorylation of BRCA1 at serine 1423 in an ATR-dependent manner PubMed
    vpr HIV-1 Vpr expression in HeLa cells induces formation of nuclear foci containing H2AFX and BRCA1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription coactivator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables tubulin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    more info
     
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to DNA damage stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to indole-3-methanol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to tumor necrosis factor IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in centrosome cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chordate embryonic development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in dosage compensation by inactivation of X chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in double-strand break repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair TAS
    Traceable Author Statement
    more info
     
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitotic G2 DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of centriole replication NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of fatty acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of histone H3-K4 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of histone H3-K9 methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of histone acetylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of intracellular estrogen receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of reactive oxygen species metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of histone H3-K4 methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of histone H3-K9 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of histone H3-K9 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of histone H4-K16 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of histone H4-K20 methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of histone acetylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of histone acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of vascular endothelial growth factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in postreplication repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein K6-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of gene expression by genetic imprinting IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to estrogen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to ionizing radiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of BRCA1-A complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of BRCA1-A complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of BRCA1-BARD1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of BRCA1-BARD1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of gamma-tubulin large complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in lateral element IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ubiquitin ligase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    breast cancer type 1 susceptibility protein
    Names
    BRCA1/BRCA2-containing complex, subunit 1
    Fanconi anemia, complementation group S
    RING finger protein 53
    breast and ovarian cancer susceptibility protein 1
    breast cancer 1, early onset
    early onset breast cancer 1
    protein phosphatase 1, regulatory subunit 53
    NP_009225.1
    NP_009228.2
    NP_009229.2
    NP_009230.2
    NP_009231.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_005905.2 RefSeqGene

      Range
      92501..173689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_292

    mRNA and Protein(s)

    1. NM_007294.4NP_009225.1  breast cancer type 1 susceptibility protein isoform 1

      See identical proteins and their annotated locations for NP_009225.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as BRCA1a) represents the more frequently occurring transcript. It encodes the full-length BRCA1 protein (isoform 1), which is also known as p220.
      Source sequence(s)
      AL701927, BC072418, BU617173, BU679389, U14680
      Consensus CDS
      CCDS11453.1
      UniProtKB/Swiss-Prot
      P38398
      Related
      ENSP00000350283.3, ENST00000357654.9
      Conserved Domains (4) summary
      smart00292
      Location:17581842
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:16501724
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      cd00162
      Location:2368
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      pfam12820
      Location:345507
      BRCT_assoc; Serine-rich domain associated with BRCT
    2. NM_007297.4NP_009228.2  breast cancer type 1 susceptibility protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translational start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      BC072418, BU617173, BU679389, U14680
      Consensus CDS
      CCDS11459.2
      UniProtKB/Swiss-Prot
      P38398
      Related
      ENSP00000418775.1, ENST00000493795.5
      Conserved Domains (3) summary
      smart00292
      Location:17111795
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:16031677
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      pfam12820
      Location:298460
      BRCT_assoc; Serine-rich domain associated with BRCT
    3. NM_007298.3NP_009229.2  breast cancer type 1 susceptibility protein isoform 4

      See identical proteins and their annotated locations for NP_009229.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as BRCA1-delta11b) differs in the 5' UTR and uses two alternate in-frame splice sites in the central coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AL701927, BC072418, BU617173, BU679389, U64805
      Consensus CDS
      CCDS11454.2
      UniProtKB/Swiss-Prot
      P38398
      UniProtKB/TrEMBL
      A0A024R1V0
      Related
      ENSP00000420705.2, ENST00000491747.6
      Conserved Domains (3) summary
      smart00292
      Location:654738
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:546620
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      cd00162
      Location:2368
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    4. NM_007299.4NP_009230.2  breast cancer type 1 susceptibility protein isoform 5

      See identical proteins and their annotated locations for NP_009230.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, uses two alternate in-frame splice sites in the central coding region, and lacks an alternate exon in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC072418, BU617173, BU679389
      Consensus CDS
      CCDS11455.2
      UniProtKB/Swiss-Prot
      P38398
      Related
      ENSP00000417148.1, ENST00000468300.5
      Conserved Domains (2) summary
      pfam00533
      Location:546619
      BRCT; BRCA1 C Terminus (BRCT) domain
      cd16498
      Location:1865
      RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
    5. NM_007300.4NP_009231.2  breast cancer type 1 susceptibility protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate in-frame exon and an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
      Source sequence(s)
      AC135721, BC072418, BC115037, BU617173, BU679389, U14680
      Consensus CDS
      CCDS11456.2
      UniProtKB/Swiss-Prot
      P38398
      Related
      ENSP00000418960.2, ENST00000471181.7
      Conserved Domains (4) summary
      smart00292
      Location:17791863
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:16711745
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      cd00162
      Location:2368
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      pfam12820
      Location:345507
      BRCT_assoc; Serine-rich domain associated with BRCT

    RNA

    1. NR_027676.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) includes an alternate 5' exon and alternate splice sites in two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC135721, AF005068, AK308084, BC072418, BU617173, BU679389, U14680

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      43044295..43125364 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_007295.2: Suppressed sequence

      Description
      NM_007295.2: This RefSeq was permanently suppressed because only partial transcript evidence exists for this transcript variant, and its full-length exon combination is unclear.
    2. NM_007296.2: Suppressed sequence

      Description
      NM_007296.2: This RefSeq was permanently suppressed because there is no full-length transcript support for the exon combination of this variant.
    3. NM_007301.2: Suppressed sequence

      Description
      NM_007301.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    4. NM_007302.2: Suppressed sequence

      Description
      NM_007302.2: This RefSeq was permanently suppressed because only partial transcript evidence exists for this transcript variant, and its full-length exon combination is unclear.
    5. NM_007303.2: Suppressed sequence

      Description
      NM_007303.2: This RefSeq was permanently suppressed because the full-length sequence of this transcript variant is unavailable, and its full-length exon combination is unclear.
    6. NM_007305.2: Suppressed sequence

      Description
      NM_007305.2: This RefSeq was permanently suppressed because the full-length sequence of this transcript variant is unavailable, and its full-length exon combination is unclear.
    7. NM_007306.2: Suppressed sequence

      Description
      NM_007306.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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