Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 672, updated on 16-Jul-2017
    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; Vega:OTTHUMG00000157426
    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 nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. 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 2009]
    Orthologs
    Location:
    17q21.31
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (43044295..43125483, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41196312..41277500, 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 neighbor of BRCA1 gene 2 (non-protein coding) Neighboring gene uncharacterized LOC101929767 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 29 Neighboring gene uncharacterized LOC107985003 Neighboring gene BRCA1 pseudogene 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in BRCA1 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2015-11-16)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2015-11-16)

    ClinGen Genome Curation Page

    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

    • ATF-2 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      ATF-2 transcription factor network, organism-specific biosystem
      ATF-2 transcription factor network
    • ATM Signaling Pathway, organism-specific biosystem (from WikiPathways)
      ATM Signaling Pathway, organism-specific biosystemAtaxia-telangiectasia (A-T) is a highly pleiotropic, autosomal recessive disease that leads to multisystem defects and has an intricate cellular phenotype, all linked to the functional inactivation o...
    • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
      Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
    • Aurora A signaling, organism-specific biosystem (from Pathway Interaction Database)
      Aurora A signaling, organism-specific biosystem
      Aurora A signaling
    • BARD1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      BARD1 signaling events, organism-specific biosystem
      BARD1 signaling events
    • BRCA1-associated genome surveillance complex (BASC), organism-specific biosystem (from KEGG)
      BRCA1-associated genome surveillance complex (BASC), organism-specific biosystemStructural complex; Genetic information processing; Repair system
    • BRCA1-associated genome surveillance complex (BASC), conserved biosystem (from KEGG)
      BRCA1-associated genome surveillance complex (BASC), conserved biosystemStructural complex; Genetic information processing; Repair system
    • Breast cancer, organism-specific biosystem (from KEGG)
      Breast cancer, organism-specific biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
    • Breast cancer, conserved biosystem (from KEGG)
      Breast cancer, conserved biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • Coregulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
      Coregulation of Androgen receptor activity, organism-specific biosystem
      Coregulation of Androgen receptor activity
    • DNA Damage Response, organism-specific biosystem (from WikiPathways)
      DNA Damage Response, organism-specific biosystemThis is the first pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and ATR) which are connected to the sources of DNA damage (in blue). The two ...
    • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
      DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      E2F transcription factor network, organism-specific biosystem
      E2F transcription factor network
    • FOXA1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      FOXA1 transcription factor network, organism-specific biosystem
      FOXA1 transcription factor network
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
      G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
    • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
      G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
    • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
    • Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystem (from WikiPathways)
      Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystemPathway model based on hub miRNAs and their putative targets from network analysis. - From a set of differentially expressed genes in both chronic HCV (hepatitis C virus) and HCC (hepatocellular carc...
    • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
      Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
    • Homologous recombination, organism-specific biosystem (from KEGG)
      Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • Homologous recombination, conserved biosystem (from KEGG)
      Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Integrated Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Cancer Pathway, organism-specific biosystem
      Integrated Cancer Pathway
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
    • Meiotic recombination, organism-specific biosystem (from REACTOME)
      Meiotic recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...
    • Meiotic synapsis, organism-specific biosystem (from REACTOME)
      Meiotic synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Metalloprotease DUBs, organism-specific biosystem (from REACTOME)
      Metalloprotease DUBs, organism-specific biosystemThe JAB1/MPN +/MOV34 (JAMM) domain metalloproteases cleave the isopeptide bond at or near the the attachment point of polyubiquitin and substrate. PSMD14 (RPN11), STAMBP (AMSH), STAMBPL1 (AMSH-LP), a...
    • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
      MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • MicroRNAs in cancer, conserved biosystem (from KEGG)
      MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
      Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystem (from WikiPathways)
      Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystemProtein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and not...
    • Platinum drug resistance, organism-specific biosystem (from KEGG)
      Platinum drug resistance, organism-specific biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Platinum drug resistance, conserved biosystem (from KEGG)
      Platinum drug resistance, conserved biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
      Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
    • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
      Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
    • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
      Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...
    • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
    • Regulation of TP53 Activity through Phosphorylation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity through Phosphorylation, organism-specific biosystemPhosphorylation of TP53 (p53) at the N-terminal serine residues S15 and S20 plays a critical role in protein stabilization as phosphorylation at these sites interferes with binding of the ubiquitin l...
    • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
      Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
    • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
    • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
    • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
      SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
    • SUMOylation, organism-specific biosystem (from REACTOME)
      SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
    • SUMOylation of DNA damage response and repair proteins, organism-specific biosystem (from REACTOME)
      SUMOylation of DNA damage response and repair proteins, organism-specific biosystemSeveral factors that participate in DNA damage response and repair are SUMOylated (reviewed in Dou et al. 2011, Bekker-Jensen and Mailand 2011, Ulrich 2012, Psakhye and Jentsch 2012, Bologna and Ferr...
    • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
      Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
    • TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystemSeveral DNA repair genes contain p53 response elements and their transcription is positively regulated by TP53 (p53). TP53-mediated regulation probably ensures increased protein level of DNA repair g...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional repression, organism-specific biosystem
      Validated targets of C-MYC transcriptional repression
    • miRNA Regulation of DNA Damage Response, organism-specific biosystem (from WikiPathways)
      miRNA Regulation of DNA Damage Response, organism-specific biosystemThis is the first out of two pathways which deals with the DNA damage response. It is comprised of two central gene products (ATM and ATR) influenced by different sources of DNA damage (in blue). The...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    androgen receptor binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription coactivator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tubulin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA double-strand break processing TAS
    Traceable Author Statement
    more info
     
    DNA replication TAS
    Traceable Author Statement
    more info
     
    DNA synthesis involved in DNA repair TAS
    Traceable Author Statement
    more info
     
    G2 DNA damage checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    androgen receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to DNA damage stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to indole-3-methanol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to tumor necrosis factor IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    centrosome cycle IEA
    Inferred from Electronic Annotation
    more info
     
    chordate embryonic development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dosage compensation by inactivation of X chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    double-strand break repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-strand break repair via nonhomologous end joining TAS
    Traceable Author Statement
    more info
     
    fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic apoptotic signaling pathway in response to DNA damage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitotic G2/M transition checkpoint IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of centriole replication NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of fatty acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of histone H3-K4 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of histone H3-K9 methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of histone acetylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of intracellular estrogen receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of reactive oxygen species metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell cycle arrest IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of histone H3-K4 methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of histone H3-K9 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of histone H3-K9 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of histone H4-K16 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of histone H4-K20 methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of histone acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription, DNA-templated TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of vascular endothelial growth factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    postreplication repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein K6-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of DNA methylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of gene expression by genetic imprinting IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of transcription from RNA polymerase III promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    response to estrogen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to ionizing radiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    strand displacement TAS
    Traceable Author Statement
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    BRCA1-A complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    BRCA1-BARD1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    gamma-tubulin ring complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    intracellular ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lateral element IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin ligase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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

    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_007294.3NP_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, OTTHUMP00000212143, ENST00000357654.7, OTTHUMT00000348798
      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_007297.3NP_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, OTTHUMP00000212148, ENST00000493795.5, OTTHUMT00000348803
      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, OTTHUMP00000212155, ENST00000491747.6, OTTHUMT00000348811
      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_007299.3NP_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, OTTHUMP00000212149, ENST00000468300.5, OTTHUMT00000348804
      Conserved Domains (2) summary
      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 ...
    5. NM_007300.3NP_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, AL701927, BC072418, BC115037, BU617173, BU679389, U14680
      Consensus CDS
      CCDS11456.2
      UniProtKB/Swiss-Prot
      P38398
      Related
      ENSP00000418960.2, OTTHUMP00000212147, ENST00000471181.6, OTTHUMT00000348802
      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_027676.1 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)
      AF005068, AK308084, BC072418, BU617173, BU679389, U14680
      Related
      ENST00000461221.5, OTTHUMT00000348807

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      43044295..43125483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      41431851..41513018 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.
    Support Center