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BRAP BRCA1 associated protein [ Homo sapiens (human) ]

Gene ID: 8315, updated on 5-Jul-2020

Summary

Official Symbol
BRAPprovided by HGNC
Official Full Name
BRCA1 associated proteinprovided by HGNC
Primary source
HGNC:HGNC:1099
See related
Ensembl:ENSG00000089234 MIM:604986
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

Genomic context

See BRAP in Genome Data Viewer
Location:
12q24.12
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (111642146..111686023, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (112079950..112123790, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ataxin 2 Neighboring gene IFITM3 pseudogene 5 Neighboring gene ATXN2 antisense RNA Neighboring gene PEST containing nuclear protein pseudogene 1 Neighboring gene acyl-CoA dehydrogenase family member 10 Neighboring gene aldehyde dehydrogenase 2 family member Neighboring gene microRNA 6761

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?

Phenotypes

NHGRI GWAS Catalog

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

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
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
nuclear localization sequence binding IDA
Inferred from Direct Assay
more info
PubMed 
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase activity TAS
Traceable Author Statement
more info
 
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
MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
MAPK cascade TAS
Traceable Author Statement
more info
 
Ras protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_011537091.1
XP_016875481.1
XP_016875482.1
XP_016875483.1
XP_016875484.1

NCBI Reference Sequences (RefSeq)

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_006768.5NP_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
    Q7Z569
    UniProtKB/TrEMBL
    Q59H81
    Related
    ENSP00000403524.3, ENST00000419234.9
    Conserved Domains (4) summary
    cd00162
    Location:263304
    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:160243
    RRM_BRAP2; RNA recognition motif in BRCA1-associated protein (BRAP2)
    pfam02148
    Location:317379
    zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    cl23887
    Location:407558
    DUF4349; Domain of unknown function (DUF4349)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    111642146..111686023 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019994.1XP_016875483.1  BRCA1-associated protein isoform X3

    Conserved Domains (4) summary
    cd00162
    Location:114155
    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:1194
    RRM_BRAP2; RNA recognition motif in BRCA1-associated protein (BRAP2)
    pfam02148
    Location:168230
    zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    cl23887
    Location:258409
    DUF4349; Domain of unknown function (DUF4349)
  2. XM_005253944.4XP_005254001.1  BRCA1-associated protein isoform X1

    Related
    ENSP00000330813.5, ENST00000327551.6
    Conserved Domains (4) summary
    cd00162
    Location:304345
    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:201284
    RRM_BRAP2; RNA recognition motif in BRCA1-associated protein (BRAP2)
    pfam02148
    Location:358420
    zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    cl23887
    Location:434599
    DUF4349; Domain of unknown function (DUF4349)
  3. XM_011538789.3XP_011537091.1  BRCA1-associated protein isoform X4

    Conserved Domains (2) summary
    pfam02148
    Location:3092
    zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    cl23887
    Location:120271
    DUF4349; Domain of unknown function (DUF4349)
  4. XM_017019993.1XP_016875482.1  BRCA1-associated protein isoform X3

    Conserved Domains (4) summary
    cd00162
    Location:114155
    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:1194
    RRM_BRAP2; RNA recognition motif in BRCA1-associated protein (BRAP2)
    pfam02148
    Location:168230
    zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    cl23887
    Location:258409
    DUF4349; Domain of unknown function (DUF4349)
  5. XM_017019992.1XP_016875481.1  BRCA1-associated protein isoform X2

  6. XM_017019995.1XP_016875484.1  BRCA1-associated protein isoform X3

    Conserved Domains (4) summary
    cd00162
    Location:114155
    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:1194
    RRM_BRAP2; RNA recognition motif in BRCA1-associated protein (BRAP2)
    pfam02148
    Location:168230
    zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    cl23887
    Location:258409
    DUF4349; Domain of unknown function (DUF4349)
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