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RAB40A Gene(Protein Coding)

RAB40A, Member RAS Oncogene Family

GCID:
GC0XM103498
GIFtS:
37
Genes Participants
UDN Logo

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 Metabolism of proteins and RAB geranylgeranylation. Gene Ontology (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

Additional gene information 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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for RAB40A Gene

Promoters and enhancers for RAB40A 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
GH0XI103507 Promoter 0.5 EPDnew 550.4 +11.5 11529 0.1 RAB40A ENSG00000234405 LL0XNC01-250H12.3
GH0XI103684 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 6.7 -167.5 -167533 4.4 PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A ZNF2 ZBTB7B YY1 POLR2B MORF4L2 MORF4L2-AS1 BEX4 RAB40A LOC100130176
GH0XI103464 Enhancer 0.9 Ensembl ENCODE 10.5 +54.9 54888 1.2 CTCF PKNOX1 ZNF654 REST RAD21 FOXK2 ARID2 GLIS1 ZNF143 SMC3 TCEAL9 BEX3 RAB40A PIR62779 PIR37216 LL0XNC01-250H12.3
GH0XI103655 Enhancer 1 Ensembl ENCODE 5.3 -138.2 -138197 4.2 NCOA3 SOX13 FOXA2 JUN MAX BRCA1 RFX5 ZFHX2 CTBP1 GATA3 MORF4L2-AS1 MORF4L2 TCEAL3 TCEAL1 TCEAL3-AS1 PLP1 BEX4 BEX2 RAB40A LOC100130176
GH0XI103540 Enhancer 0.4 ENCODE 9.4 -20.8 -20824 0.2 JUND FOS RAB40A TCEAL4 LOC105373300
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RAB40A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB40A gene promoter:

Genomic Locations for RAB40A Gene

Genomic Locations for RAB40A Gene
chrX:103,499,130-103,519,489
(GRCh38/hg38)
Size:
20,360 bases
Orientation:
Minus strand
chrX:102,754,678-102,774,417
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for RAB40A Gene

Proteins for RAB40A Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

No Post-translational modifications

Other Protein References for RAB40A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB40A Gene

Domains & Families for RAB40A Gene

Gene Families for RAB40A Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for RAB40A Gene

InterPro:
Blocks:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 --
GO:0008021 synaptic vesicle IBA --
GO:0016020 membrane IEA --
GO:0030667 secretory granule membrane IBA --
genes like me logo Genes that share ontologies with RAB40A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB40A Gene

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 NOT vesicle docking involved in exocytosis IBA --
GO:0009306 NOT protein secretion IBA --
GO:0016567 protein ubiquitination IEA --
GO:0017157 NOT regulation of exocytosis IBA --
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for RAB40A Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for RAB40A Gene
mRNA expression by BioGPS for RAB40A GenemRNA expression by GTEx 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 33 34
  • 99.04 (n)
mouse
(Mus musculus)
 Mammalia Rab40b 34
  • 82 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia RAB40B 34
  • 79 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia -- 34
  • 56 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 4 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves RAB40B 34
  • 72 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 73 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii rab40b 34
  • 77 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG1900 35
  • 58 (a)
Rab40 34
  • 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 Variation AA Info Type
rs1000261749 -- 103,507,010(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000473719 -- 103,495,781(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000604147 -- 103,504,725(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000845895 -- 103,495,170(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000899254 -- 103,495,991(-) A/C 3_prime_UTR_variant, genic_downstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for RAB40A

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 to cells : devoted to molecular & cellular mechanisms 2006) 3 4 58
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Evolution of the Rab family of small GTP-binding proteins. (PMID: 11697911) Pereira-Leal JB … Seabra MC (Journal of molecular biology 2001) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for RAB40A Gene

Sources for RAB40A Gene

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