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] See more...

Aliases for BRAP Gene

Aliases for BRAP Gene

  • BRCA1 Associated Protein 2 3 5
  • Impedes Mitogenic Signal Propagation 2 3 4
  • RING-Type E3 Ubiquitin Transferase BRAP2 3 4
  • Renal Carcinoma Antigen NY-REN-63 3 4
  • Galectin-2-Binding Protein 2 3
  • BRCA1-Associated Protein 3 4
  • RING Finger Protein 52 3 4
  • BRAP2 3 4
  • RNF52 3 4
  • IMP 3 4
  • EC 2.3.2.27 4

External Ids for BRAP Gene

Previous GeneCards Identifiers for BRAP Gene

  • GC12M110940
  • GC12U900022
  • GC12M111864
  • GC12M110493
  • GC12M110544
  • GC12M112080
  • GC12M109093

Summaries for BRAP Gene

Entrez Gene Summary for BRAP Gene

  • 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]

GeneCards Summary for BRAP Gene

BRAP (BRCA1 Associated Protein) is a Protein Coding gene. Diseases associated with BRAP include Astereognosia and Melanoma, Uveal. Among its related pathways are RET signaling and Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include nucleotide binding and ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot Summary for BRAP Gene

  • Negatively regulates MAP kinase activation by limiting the formation of Raf/MEK complexes probably by inactivation of the KSR1 scaffold protein. Also acts as a Ras responsive E3 ubiquitin ligase that, on activation of Ras, is modified by auto-polyubiquitination resulting in the release of inhibition of Raf/MEK complex formation. May also act as a cytoplasmic retention protein with a role in regulating nuclear transport.

Additional gene information for BRAP Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BRAP Gene

Genomics for BRAP Gene

GeneHancer (GH) Regulatory Elements for BRAP Gene

Promoters and enhancers for BRAP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J111684 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.3 283 3.4 ZBTB40 ZNF217 CTCF NRF1 TCF12 POLR2G SP1 GTF2E2 PHF8 ZFX ACAD10 BRAP HSALNG0094051 ALDH2 PCNPP1 ADAM1A
GH12J111688 Enhancer 0.5 ENCODE 500.7 -1.5 -1476 0.1 CTCF REST RAD21 SMC3 KDM4B HDAC1 HSF1 ZNF184 TRIM22 ZNF143 ACAD10 BRAP HSALNG0094051 piR-39305
GH12J111055 Enhancer 1.7 VISTA UCNEbase FANTOM5 ENCODE 11.7 +628.8 628805 2.9 ZBTB40 ZBTB10 CTBP1 MXI1 NFRKB KLF9 CREB1 SP2 GABPA TRIM24 ADAM1A ATXN2 IFT81 PCNPP1 CUX2 MAPKAPK5 BRAP ATXN2-AS ANAPC7 MYL2
GH12J111772 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 10.9 -89.7 -89748 6.2 EP300 FOXK2 POLR2G SP1 NCOR1 POLR2A ZBTB11 TCF7 AFF1 TRIM28 ALDH2 BRAP ACAD10 SH2B3 PHETA1 ENSG00000257767 MIR6761
GH12J111788 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.3 -102.6 -102605 0.8 CTCF ZIC2 REST RAD21 MYC TRIM22 SMC3 FOXA2 CEBPG CEBPB ADAM1A ALDH2 ACAD10 BRAP MIR6761 ENSG00000257767
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BRAP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BRAP

Top Transcription factor binding sites by QIAGEN in the BRAP gene promoter:
  • c-Myc
  • Max
  • Max1

Genomic Locations for BRAP Gene

Genomic Locations for BRAP Gene
chr12:111,642,146-111,685,996
(GRCh38/hg38)
Size:
43,851 bases
Orientation:
Minus strand
chr12:112,079,950-112,123,790
(GRCh37/hg19)
Size:
43,841 bases
Orientation:
Minus strand

Genomic View for BRAP Gene

Genes around BRAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRAP Gene

Proteins for BRAP Gene

  • Protein details for BRAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z569-BRAP_HUMAN
    Recommended name:
    BRCA1-associated protein
    Protein Accession:
    Q7Z569
    Secondary Accessions:
    • B4DRM1
    • B9EGS8
    • O43238
    • O75341

    Protein attributes for BRAP Gene

    Size:
    592 amino acids
    Molecular mass:
    67305 Da
    Quaternary structure:
    • Interacts with the nuclear localization signal of BRCA1 and with the N-terminal of KSR1. The C-terminal portion of BCRA1 interacts with DDB1.
    SequenceCaution:
    • Sequence=AAC24200.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for BRAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRAP Gene

Post-translational modifications for BRAP Gene

  • Ubiquitination at Lys381, Lys385, and Lys580
  • Modification sites at PhosphoSitePlus

Other Protein References for BRAP Gene

No data available for DME Specific Peptides for BRAP Gene

Domains & Families for BRAP Gene

Gene Families for BRAP Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for BRAP Gene

Blocks:
  • Zn-finger, RING
  • Zn-finger in ubiquitin thiolesterase
  • BRCA1-associated 2
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BRAP Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50182, highly similar to BRCA1-associated protein (EC 6.3.2.-) (B4DRM1_HUMAN)
  • Renal carcinoma antigen NY-REN-63 (BRAP_HUMAN)
genes like me logo Genes that share domains with BRAP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BRAP Gene

Function for BRAP Gene

Molecular function for BRAP Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates MAP kinase activation by limiting the formation of Raf/MEK complexes probably by inactivation of the KSR1 scaffold protein. Also acts as a Ras responsive E3 ubiquitin ligase that, on activation of Ras, is modified by auto-polyubiquitination resulting in the release of inhibition of Raf/MEK complex formation. May also act as a cytoplasmic retention protein with a role in regulating nuclear transport.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=. ;.

Enzyme Numbers (IUBMB) for BRAP Gene

Phenotypes From GWAS Catalog for BRAP Gene

Gene Ontology (GO) - Molecular Function for BRAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0004842 ubiquitin-protein transferase activity IDA 14724641
GO:0005515 protein binding IPI 9497340
GO:0008139 nuclear localization sequence binding IDA 9497340
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with BRAP: view
genes like me logo Genes that share phenotypes with BRAP: view

Animal Models for BRAP Gene

MGI Knock Outs for BRAP:
  • Brap Brap<tm1.1Yfng>

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BRAP Gene

Localization for BRAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRAP Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRAP gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BRAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 14724641
GO:0005737 cytoplasm IEA,IDA 9497340
GO:0005829 cytosol IDA,TAS --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with BRAP: view

Pathways & Interactions for BRAP Gene

PathCards logo

SuperPathways for BRAP Gene

SuperPathway Contained pathways
1 RET signaling
2 Paradoxical activation of RAF signaling by kinase inactive BRAF
3 Developmental Biology
4 Cytokine Signaling in Immune system
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with BRAP: view

Pathways by source for BRAP Gene

UniProtKB/Swiss-Prot Q7Z569-BRAP_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for BRAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS,IDA --
GO:0007265 Ras protein signal transduction IDA 14724641
GO:0009968 negative regulation of signal transduction IDA 14724641
GO:0016567 protein ubiquitination IDA,IEA --
genes like me logo Genes that share ontologies with BRAP: view

No data available for SIGNOR curated interactions for BRAP Gene

Drugs & Compounds for BRAP Gene

No Compound Related Data Available

Transcripts for BRAP Gene

mRNA/cDNA for BRAP Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BRAP Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: -
SP2:

Relevant External Links for BRAP Gene

GeneLoc Exon Structure for
BRAP

Expression for BRAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BRAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BRAP Gene

This gene is overexpressed in Testis (x4.2).

Protein differential expression in normal tissues from HIPED for BRAP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (26.0), Testis (25.8), and CD8 Tcells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BRAP Gene



Protein tissue co-expression partners for BRAP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BRAP

SOURCE GeneReport for Unigene cluster for BRAP Gene:

Hs.530940

mRNA Expression by UniProt/SwissProt for BRAP Gene:

Q7Z569-BRAP_HUMAN
Tissue specificity: Expressed in breast epithelial cell lines.

Evidence on tissue expression from TISSUES for BRAP Gene

  • Nervous system(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with BRAP: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BRAP Gene

Orthologs for BRAP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BRAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BRAP 31 30
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BRAP 31 30
  • 93.36 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRAP 31
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BRAP 31 30
  • 91.55 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 53 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Brap 17 31 30
  • 85.9 (n)
rat
(Rattus norvegicus)
Mammalia Brap 30
  • 84.88 (n)
chicken
(Gallus gallus)
Aves BRAP 31 30
  • 79.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRAP 31
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brap 30
  • 74.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68778 30
zebrafish
(Danio rerio)
Actinopterygii brap 31 30
  • 73.84 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5555 31 32 30
  • 53.23 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002128 30
  • 53.12 (n)
worm
(Caenorhabditis elegans)
Secernentea EEED8.16 31 32 30
  • 49.44 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ETP1 33 31 30
  • 50.71 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL079C 30
  • 49 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F25740g 30
  • 48.83 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons BRIZ2 30
  • 49.57 (n)
rice
(Oryza sativa)
Liliopsida Os02g0182900 30
  • 52.29 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU11215 30
  • 48.33 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC16E8.13 30
  • 48.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4818 31
  • 43 (a)
OneToOne
Cin.10973 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10973 30
Species where no ortholog for BRAP was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BRAP Gene

ENSEMBL:
Gene Tree for BRAP (if available)
TreeFam:
Gene Tree for BRAP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BRAP: view image

Paralogs for BRAP Gene

(3) SIMAP similar genes for BRAP Gene using alignment to 3 proteins:

  • BRAP_HUMAN
  • B4DRM1_HUMAN
  • J3KNN7_HUMAN
genes like me logo Genes that share paralogs with BRAP: view

No data available for Paralogs for BRAP Gene

Variants for BRAP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BRAP Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
715522 Benign: not provided 111,659,295(-) G/A SYNONYMOUS_VARIANT
768584 Benign: not provided 111,650,001(-) C/T SYNONYMOUS_VARIANT
768585 Benign: not provided 111,665,785(-) G/A SYNONYMOUS_VARIANT
768586 Benign: not provided 111,679,205(-) A/G SYNONYMOUS_VARIANT
778660 Benign: not provided 111,683,264(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for BRAP Gene

Structural Variations from Database of Genomic Variants (DGV) for BRAP Gene

Variant ID Type Subtype PubMed ID
esv3630761 CNV loss 21293372
esv3630762 CNV gain 21293372
esv3630763 CNV gain 21293372
nsv973119 CNV duplication 23825009

Variation tolerance for BRAP Gene

Residual Variation Intolerance Score: 20.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.58; 30.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BRAP Gene

Human Gene Mutation Database (HGMD)
BRAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRAP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRAP Gene

Disorders for BRAP Gene

MalaCards: The human disease database

(2) MalaCards diseases for BRAP Gene - From: DISEASES

Disorder Aliases PubMed IDs
astereognosia
  • somatosensory agnosia
melanoma, uveal
  • uveal melanoma
- elite association - COSMIC cancer census association via MalaCards
Search BRAP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BRAP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BRAP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BRAP Gene

Publications for BRAP Gene

  1. SNPs in BRAP associated with risk of myocardial infarction in Asian populations. (PMID: 19198608) Ozaki K … Tanaka T (Nature genetics 2009) 2 3 41 54
  2. Identification of a novel cytoplasmic protein that specifically binds to nuclear localization signal motifs. (PMID: 9497340) Li S … Lee WH (The Journal of biological chemistry 1998) 2 3 4 54
  3. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y … Kamatani N (Nature genetics 2010) 3 41 54
  4. Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. (PMID: 19698717) Cui R … Matsuda K (Gastroenterology 2009) 3 41 54
  5. Brap2 functions as a cytoplasmic retention protein for p21 during monocyte differentiation. (PMID: 15340083) Asada M … Mizutani S (Molecular and cellular biology 2004) 3 23 54

Products for BRAP Gene

Sources for BRAP Gene