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Aliases for RAB40A Gene

Aliases for RAB40A Gene

  • RAB40A, Member RAS Oncogene Family 2 3 5
  • SOCS Box-Containing Protein RAR2A 3 4
  • Protein Rar-2 3 4
  • Ras-Related Protein Rab-40A 3
  • RAR2A 3
  • RAR2 3

External Ids for RAB40A Gene

Previous GeneCards Identifiers for RAB40A Gene

  • GC0XM098056
  • GC0XM099663
  • GC0XM100787
  • GC0XM101526
  • GC0XM102560
  • GC0XM102641
  • GC0XM102754
  • GC0XM092410

Summaries for RAB40A Gene

Entrez Gene Summary for RAB40A Gene

  • This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 2010]

GeneCards Summary for RAB40A Gene

RAB40A (RAB40A, Member RAS Oncogene Family) is a Protein Coding gene. Among its related pathways are RAB geranylgeranylation and Metabolism of proteins. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB40AL.

UniProtKB/Swiss-Prot for RAB40A Gene

  • May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Gene Wiki entry for RAB40A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB40A Gene

Genomics for RAB40A Gene

Regulatory Elements for RAB40A Gene

Enhancers for RAB40A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG103464 0.9 Ensembl ENCODE 10.5 +54.9 54889 1.2 CTCF PKNOX1 ZNF654 REST RAD21 FOXK2 GLIS1 SMC3 ZSCAN29 PRDM10 TCEAL9 BEX3 RAB40A PIR62779 PIR37216
GH0XG103684 1.4 ENCODE dbSUPER 6.6 -167.5 -167533 4.4 PKNOX1 CREB3L1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF207 ZNF143 BEX4 RAB40A MORF4L2-AS1 LOC100130176
GH0XG103655 1.1 Ensembl ENCODE 5.3 -138.2 -138197 4.2 TBP FOXA2 BRCA1 RFX5 GATA2 ZNF366 RCOR1 FOS EGR2 CEBPB BEX4 MORF4L2-AS1 MORF4L2 TCEAL3 ZCCHC18 TCEAL1 TCEAL3-AS1 BHLHB9 PLP1 FAM199X
GH0XG103540 0.4 ENCODE 9.4 -20.8 -20824 0.2 JUND FOS RAB40A TCEAL4
GH0XG103631 0.2 ENCODE 9.4 -111.8 -111818 0.4 RAB40A LOC105373302 LOC100130176
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAB40A on UCSC Golden Path with GeneCards custom track

Genomic Location for RAB40A Gene

Chromosome:
X
Start:
103,499,130 bp from pter
End:
103,519,489 bp from pter
Size:
20,360 bases
Orientation:
Minus strand

Genomic View for RAB40A Gene

Genes around RAB40A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB40A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB40A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB40A Gene

Proteins for RAB40A Gene

  • Protein details for RAB40A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXH6-RB40A_HUMAN
    Recommended name:
    Ras-related protein Rab-40A
    Protein Accession:
    Q8WXH6
    Secondary Accessions:
    • O00407
    • Q17RQ5
    • Q6DK06
    • Q8TF06

    Protein attributes for RAB40A Gene

    Size:
    277 amino acids
    Molecular mass:
    31076 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RAB40A Gene

Post-translational modifications for RAB40A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB40A Gene

No data available for DME Specific Peptides for RAB40A Gene

Domains & Families for RAB40A Gene

Gene Families for RAB40A Gene

Suggested Antigen Peptide Sequences for RAB40A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WXH6

UniProtKB/Swiss-Prot:

RB40A_HUMAN :
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
  • Belongs to the small GTPase superfamily. Rab family.
Domain:
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB40A: view

Function for RAB40A Gene

Molecular function for RAB40A Gene

UniProtKB/Swiss-Prot Function:
May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Gene Ontology (GO) - Molecular Function for RAB40A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RAB40A: view

Phenotypes for RAB40A Gene

genes like me logo Genes that share phenotypes with RAB40A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB40A Gene

Localization for RAB40A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB40A Gene

Cell membrane; Lipid-anchor; Cytoplasmic side.

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 RAB40A gene
Compartment Confidence
plasma membrane 4
cytosol 3
endosome 3
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RAB40A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA --
GO:0005886 plasma membrane IBA,IEA --
GO:0008021 synaptic vesicle IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAB40A: view

Pathways & Interactions for RAB40A Gene

genes like me logo Genes that share pathways with RAB40A: view

Pathways by source for RAB40A Gene

UniProtKB/Swiss-Prot Q8WXH6-RB40A_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RAB40A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006904 vesicle docking involved in exocytosis IBA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0009306 protein secretion IBA --
GO:0016567 protein ubiquitination IEA --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with RAB40A: view

No data available for SIGNOR curated interactions for RAB40A Gene

Drugs & Compounds for RAB40A Gene

No Compound Related Data Available

Transcripts for RAB40A Gene

mRNA/cDNA for RAB40A Gene

(3) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RAB40A Gene

RAB40A, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB40A Gene

No ASD Table

Relevant External Links for RAB40A Gene

GeneLoc Exon Structure for
RAB40A
ECgene alternative splicing isoforms for
RAB40A

Expression for RAB40A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAB40A Gene

NURSA nuclear receptor signaling pathways regulating expression of RAB40A Gene:

RAB40A

SOURCE GeneReport for Unigene cluster for RAB40A Gene:

Hs.706904

Evidence on tissue expression from TISSUES for RAB40A Gene

  • Nervous system(4.2)
  • Lung(4)
genes like me logo Genes that share expression patterns with RAB40A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB40A Gene

Orthologs for RAB40A Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB40A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB40A 34 35
  • 99.04 (n)
mouse
(Mus musculus)
Mammalia Rab40b 35
  • 82 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RAB40B 35
  • 79 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 56 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 4 (a)
OneToMany
chicken
(Gallus gallus)
Aves RAB40B 35
  • 72 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 73 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii rab40b 35
  • 77 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1900 36
  • 58 (a)
Rab40 35
  • 57 (a)
OneToMany
Species where no ortholog for RAB40A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RAB40A Gene

ENSEMBL:
Gene Tree for RAB40A (if available)
TreeFam:
Gene Tree for RAB40A (if available)

Paralogs for RAB40A Gene

Variants for RAB40A Gene

Sequence variations from dbSNP and Humsavar for RAB40A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000261749 -- 103,507,010(+) CCTAT(C/T)GACCC intron-variant
rs1000473719 -- 103,495,781(+) ATACA(C/T)TCAGG intron-variant, utr-variant-3-prime
rs1000604147 -- 103,504,725(+) CCATG(C/T)TGGCC intron-variant, upstream-variant-2KB
rs1000845895 -- 103,495,170(+) TGGCT(A/G)TTGTA intron-variant, utr-variant-3-prime
rs1000899254 -- 103,495,991(+) GATGA(A/C)TTGCC intron-variant, utr-variant-3-prime

Variation tolerance for RAB40A Gene

Residual Variation Intolerance Score: 90.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.53; 77.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB40A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB40A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RAB40A Gene

Disorders for RAB40A Gene

Relevant External Links for RAB40A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB40A

No disorders were found for RAB40A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAB40A Gene

Publications for RAB40A Gene

  1. Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity. (PMID: 16923123) Itoh T. … Fukuda M. (Genes Cells 2006) 3 4 64
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Evolution of the Rab family of small GTP-binding proteins. (PMID: 11697911) Pereira-Leal J.B. … Seabra M.C. (J. Mol. Biol. 2001) 2 3 64
  5. Rab40C is a novel Varp-binding protein that promotes proteasomal degradation of Varp in melanocytes. (PMID: 25661869) Yatsu A. … Fukuda M. (Biol Open 2015) 3 64

Products for RAB40A Gene

Sources for RAB40A Gene

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