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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
  • RING Finger Protein 52 3 4
  • BRAP2 3 4
  • RNF52 3 4
  • IMP 3 4
  • BRCA1-Associated Protein 3
  • 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. Among its related pathways are RET signaling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include nucleotide binding and ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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
GH12I111684 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 166 2.8 HDGF HNRNPUL1 PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 BRAP ACAD10 ALDH2 TRAFD1 RPL6 HSPA8P14 RPS2P41 PCNPP1
GH12I111687 Enhancer 0.5 ENCODE 550.8 -1.4 -1356 0.2 CTCF FOXA2 ZNF184 ZNF143 REST RAD21 KDM4B ACAD10 BRAP PIR62350
GH12I111688 Enhancer 0.5 ENCODE 550.8 -1.5 -1476 0.1 CTCF ZNF184 ZNF143 REST RAD21 KDM4B BRAP ACAD10 PIR62350
GH12I112124 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 15 -442.4 -442365 7.4 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 TRAFD1 TMEM116 MAPKAPK5 BRAP ADAM1A NAA25 ERP29 GC12P112151
GH12I111055 Enhancer 1.9 VISTA UCNEbase FANTOM5 ENCODE 11.7 +628.8 628805 2.9 HDGF PKNOX1 ATF1 ZNF473 NFRKB FEZF1 ZBTB40 ZNF155 EGR1 RCOR1 ADAM1A ATXN2 CUX2 MAPKAPK5 BRAP ATXN2-AS PCNPP1 IFT81 MYL2 LINC01405
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BRAP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BRAP gene promoter:

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)

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; Positions=556; 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 posLast=385385 and Lys580

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

Suggested Antigen Peptide Sequences for BRAP Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BRAP: view

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

Function for BRAP Gene

Molecular function for BRAP Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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.
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.

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:

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
peroxisome 2
mitochondrion 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 IDA,IEA 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

SuperPathway Contained pathways
1 RET signaling
2 Signaling by moderate kinase activity BRAF mutants
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

Unigene Clusters for BRAP Gene

BRCA1 associated protein:
Representative Sequences:

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
ECgene alternative splicing isoforms for
BRAP

Expression for BRAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for BRAP Gene



Protein tissue co-expression partners for BRAP Gene

NURSA nuclear receptor signaling pathways regulating expression of BRAP Gene:

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 33 34
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia BRAP 33 34
  • 93.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BRAP 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BRAP 33 34
  • 91.55 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 53 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Brap 33 16 34
  • 85.9 (n)
rat
(Rattus norvegicus)
Mammalia Brap 33
  • 84.88 (n)
chicken
(Gallus gallus)
Aves BRAP 33 34
  • 79.76 (n)
lizard
(Anolis carolinensis)
Reptilia BRAP 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brap 33
  • 74.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68778 33
zebrafish
(Danio rerio)
Actinopterygii brap 33 34
  • 73.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5555 35 33 34
  • 53.23 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002128 33
  • 53.12 (n)
worm
(Caenorhabditis elegans)
Secernentea EEED8.16 35 33 34
  • 49.44 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ETP1 33 34 36
  • 50.71 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL079C 33
  • 49 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F25740g 33
  • 48.83 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons BRIZ2 33
  • 49.57 (n)
rice
(Oryza sativa)
Liliopsida Os02g0182900 33
  • 52.29 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU11215 33
  • 48.33 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC16E8.13 33
  • 48.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4818 34
  • 43 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10973 33
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)

Paralogs for BRAP Gene

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

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 from dbSNP and Humsavar for BRAP Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000008753 -- 111,679,679(-) T/G intron_variant
rs1000161614 -- 111,656,594(-) A/C intron_variant
rs1000183865 -- 111,654,667(-) C/T intron_variant
rs1000196871 -- 111,653,161(-) T/C intron_variant
rs1000375282 -- 111,667,124(-) G/C intron_variant

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

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

Disorders for BRAP Gene

Additional Disease Information for BRAP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for BRAP Gene.

No data available for MalaCards , 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 44 58
  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 58
  3. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y … Kamatani N (Nature genetics 2010) 3 44 58
  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 44 58
  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 22 58

Products for BRAP Gene

Sources for BRAP Gene

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