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    BRAP BRCA1 associated protein [ Homo sapiens (human) ]

    Gene ID: 8315, updated on 3-Nov-2024

    Summary

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    Official Symbol
    BRAPprovided by HGNC
    Official Full Name
    BRCA1 associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:1099
    See related
    Ensembl:ENSG00000089234 MIM:604986; AllianceGenome:HGNC:1099
    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
    IMP; BRAP2; RNF52
    Summary
    The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]
    Annotation information
    Note: BRAP (Gene ID: 8315) and C6orf89 (Gene ID: 221477) share the BRAP symbol/alias in common. BRAP is a widely used alternative name for chromosome 6 open reading frame 89 (C6orf89), which can be confused with the official symbol for BRCA1-associated protein (BRAP). [05 Jul 2018]
    Expression
    Broad expression in testis (RPKM 24.8), bone marrow (RPKM 8.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BRAP in Genome Data Viewer
    Location:
    12q24.12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (111642146..111685956, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (111619068..111662902, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (112079950..112123760, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ataxin 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:112029875-112030049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7038 Neighboring gene IFITM3 pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112049467-112049966 Neighboring gene ATXN2 antisense RNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112073223-112073826 Neighboring gene uncharacterized LOC124903020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112122083-112122784 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112122785-112123486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:112123487-112124188 Neighboring gene PEST containing nuclear protein pseudogene 1 Neighboring gene acyl-CoA dehydrogenase family member 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112194124-112194765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112195407-112196048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112196049-112196688 Neighboring gene NANOG hESC enhancer GRCh37_chr12:112199468-112200003 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:112204196-112204965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112210937-112211508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112228790-112229715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112229716-112230640 Neighboring gene aldehyde dehydrogenase 2 family member Neighboring gene microRNA 6761

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BAP1 Loss Is Associated with Higher ASS1 Expression in Epithelioid Mesothelioma: Implications for Therapeutic Stratification.
      Title: BAP1 Loss Is Associated with Higher ASS1 Expression in Epithelioid Mesothelioma: Implications for Therapeutic Stratification.
    2. CUX2, BRAP and ALDH2 are associated with metabolic traits in people with excessive alcohol consumption.
      Title: CUX2, BRAP and ALDH2 are associated with metabolic traits in people with excessive alcohol consumption.
    3. Potential mechanisms underlying the association between single nucleotide polymorphism (BRAP and ALDH2) and hypertension among elderly Japanese population.
      Title: Potential mechanisms underlying the association between single nucleotide polymorphism (BRAP and ALDH2) and hypertension among elderly Japanese population.
    4. BRCA1-associated protein inhibits glioma cell proliferation and migration and glioma stem cell self-renewal via the TGF-beta/PI3K/AKT/mTOR signalling pathway.
      Title: BRCA1-associated protein inhibits glioma cell proliferation and migration and glioma stem cell self-renewal via the TGF-β/PI3K/AKT/mTOR signalling pathway.
    5. Mutation in BRAP gene is associated with childhood pulmonary arterial hypertension.
      Title: Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension.
    6. Average dietary energy in lunch, BRAP SNP rs3782886, and GHRL SNP rs696217 were associated with obesity, and BRAP rs3782886 was associated with other metabolic abnormalities
      Title: Effect of dietary energy and polymorphisms in BRAP and GHRL on obesity and metabolic traits.
    7. Six polymorphisms (rs12229654 at 12q24.1, rs671 of ALDH2, rs11066015 of ACAD10, rs2074356 and rs11066280 of HECTD4, and rs3782886 of BRAP) were found to be associated with both systolic and diastolic blood pressure, with those at 12q24.1 or in ACAD10 or BRAP being novel determinants of blood pressure in Japanese.
      Title: Identification of polymorphisms in 12q24.1, ACAD10, and BRAP as novel genetic determinants of blood pressure in Japanese by exome-wide association studies.
    8. IMPACT data were consistent with increased risks of onset among BRCA1 and BRCA2 mutation carriers
      Title: Screening Men at Increased Risk for Prostate Cancer Diagnosis: Model Estimates of Benefits and Harms.
    9. Expression of BRAP is increased in esophageal squamous cell carcinoma samples compared with non-tumor esophageal tissues; increased expression correlates with reduced patient survival time and promotes metastasis of xenograft tumors in mice.
      Title: BRCA1-Associated Protein Increases Invasiveness of Esophageal Squamous Cell Carcinoma.
    10. Together the results indicate for the first time that BRAP2 may play an important NRNI role in germ cells of the testis, with an additional, scaffold/structural role in mature spermatozoa.
      Title: Interactome of the negative regulator of nuclear import BRCA1-binding protein 2.
    Submit: New GeneRIF Correction See all GeneRIFs (34)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Novel associations for hypothyroidism include known autoimmune risk loci.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables nuclear localization sequence binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity TAS
    Traceable Author Statement
    more info
    		  
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in MAPK cascade TAS
    Traceable Author Statement
    more info
    		  
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BRCA1-associated protein
    Names
    RING finger protein 52
    RING-type E3 ubiquitin transferase BRAP2
    galectin-2-binding protein
    impedes mitogenic signal propagation
    renal carcinoma antigen NY-REN-63
    NP_006759.3
    XP_005254001.1
    XP_016875481.1
    XP_047285578.1
    XP_047285579.1
    XP_054229339.1
    XP_054229340.1
    XP_054229341.1
    XP_054229342.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_006768.5 → NP_006759.3  BRCA1-associated protein

      See identical proteins and their annotated locations for NP_006759.3

      Status: REVIEWED

      Source sequence(s)
      AB208878, AC137055, BU674276, DB460078
      Consensus CDS
      CCDS9154.1
      UniProtKB/Swiss-Prot
      B4DRM1, B9EGS8, O43238, O75341, Q7Z569
      UniProtKB/TrEMBL
      A8K2W4
      Related
      ENSP00000403524.3, ENST00000419234.9
      Conserved Domains (4) summary
      cd00162
      Location:263 → 304
      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 ...
      cd12718
      Location:160 → 243
      RRM_BRAP2; RNA recognition motif in BRCA1-associated protein (BRAP2)
      pfam02148
      Location:317 → 379
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
      cl23887
      Location:407 → 558
      DUF4349; Domain of unknown function (DUF4349)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      111642146..111685956 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019992.2 → XP_016875481.1  BRCA1-associated protein isoform X2

      UniProtKB/TrEMBL
      A8K2W4

    2. XM_005253944.5 → XP_005254001.1  BRCA1-associated protein isoform X1

      UniProtKB/TrEMBL
      A8K2W4
      Related
      ENSP00000330813.5, ENST00000327551.6
      Conserved Domains (4) summary
      cd00162
      Location:304 → 345
      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 ...
      cd12718
      Location:201 → 284
      RRM_BRAP2; RNA recognition motif in BRCA1-associated protein (BRAP2)
      pfam02148
      Location:358 → 420
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
      cl23887
      Location:434 → 599
      DUF4349; Domain of unknown function (DUF4349)

    3. XM_047429622.1 → XP_047285578.1  BRCA1-associated protein isoform X3

    4. XM_047429623.1 → XP_047285579.1  BRCA1-associated protein isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      111619068..111662902 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373364.1 → XP_054229339.1  BRCA1-associated protein isoform X1

    2. XM_054373365.1 → XP_054229340.1  BRCA1-associated protein isoform X2

    3. XM_054373366.1 → XP_054229341.1  BRCA1-associated protein isoform X3

    4. XM_054373367.1 → XP_054229342.1  BRCA1-associated protein isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z569.2 GenPept UniProtKB/Swiss-Prot:Q7Z569

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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