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Aliases for RAB5A Gene

Aliases for RAB5A Gene

  • RAB5A, Member RAS Oncogene Family 2 3 5
  • RAS-Associated Protein RAB5A 2 3
  • RAB5 3 4

External Ids for RAB5A Gene

Previous HGNC Symbols for RAB5A Gene

  • RAB5

Previous GeneCards Identifiers for RAB5A Gene

  • GC03P019319
  • GC03M019342
  • GC03P019838

Summaries for RAB5A Gene

GeneCards Summary for RAB5A Gene

RAB5A (RAB5A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB5A include motor neuron disease and amyotrophic lateral sclerosis type 2. Among its related pathways are Platelet activation, signaling and aggregation and Development EGFR signaling pathway. GO annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB5C.

UniProtKB/Swiss-Prot for RAB5A Gene

  • The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes. Contributes to the regulation of filopodia extension. Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan (PubMed:22660413).

Gene Wiki entry for RAB5A Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB5A Gene

Genomics for RAB5A Gene

Regulatory Elements for RAB5A Gene

Promoters for RAB5A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAB5A on UCSC Golden Path with GeneCards custom track

Genomic Location for RAB5A Gene

Chromosome:
3
Start:
19,947,079 bp from pter
End:
19,985,175 bp from pter
Size:
38,097 bases
Orientation:
Plus strand

Genomic View for RAB5A Gene

Genes around RAB5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB5A Gene

Proteins for RAB5A Gene

  • Protein details for RAB5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20339-RAB5A_HUMAN
    Recommended name:
    Ras-related protein Rab-5A
    Protein Accession:
    P20339
    Secondary Accessions:
    • B4DJA5
    • Q6FI44

    Protein attributes for RAB5A Gene

    Size:
    215 amino acids
    Molecular mass:
    23659 Da
    Quaternary structure:
    • Interacts with SGSM1 and SGSM3 (By similarity). Interacts with PIK3CB (By similarity). Interacts with GDI1; this promotes dissociation from membranes. Interacts with EEA1. Interacts with RIN1 and GAPVD1, which regulate its pathway, probably by acting as a GEF. Interacts with RINL. Interacts with ALS2CL, SUN2, ZFYVE20 and RUFY1. Interacts with RABEP1; one RABEP1 homodimer binds two RAB5A chains, but at opposite sides of the dimer. Interacts with OCRL and RAB5A (PubMed:25869668).

    Three dimensional structures from OCA and Proteopedia for RAB5A Gene

    Alternative splice isoforms for RAB5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB5A Gene

Proteomics data for RAB5A Gene at MOPED

Post-translational modifications for RAB5A Gene

  • Ubiquitination at Lys 134
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB5A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RAB5A (RAB5A)

No data available for DME Specific Peptides for RAB5A Gene

Domains & Families for RAB5A Gene

Gene Families for RAB5A Gene

Graphical View of Domain Structure for InterPro Entry

P20339

UniProtKB/Swiss-Prot:

RAB5A_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB5A: view

Function for RAB5A Gene

Molecular function for RAB5A Gene

GENATLAS Biochemistry:
RAB5A,Ras oncogene superfamily member,located in early endosomes
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP.
UniProtKB/Swiss-Prot Function:
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes. Contributes to the regulation of filopodia extension. Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan (PubMed:22660413).
genes like me logo Genes that share phenotypes with RAB5A: view

Animal Models for RAB5A Gene

MGI Knock Outs for RAB5A:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB5A Gene

Localization for RAB5A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB5A Gene

Cell membrane; Lipid-anchor; Cytoplasmic side. Early endosome membrane; Lipid-anchor. Melanosome. Cytoplasmic vesicle. Cell projection, ruffle. Membrane. Cytoplasm, cytosol. Note=Enriched in stage I melanosomes (PubMed:17081065). Alternates between membrane-bound and cytosolic forms (Probable). {ECO:0000269 PubMed:17081065, ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB5A Gene COMPARTMENTS Subcellular localization image for RAB5A gene
Compartment Confidence
cytosol 5
endosome 5
extracellular 5
plasma membrane 4
cytoskeleton 3
lysosome 3
mitochondrion 3
vacuole 3
golgi apparatus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RAB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005737 cytoplasm IDA 21266579
GO:0005768 endosome ISS --
GO:0005769 early endosome IDA 15078902
GO:0005829 cytosol IDA 23382462
genes like me logo Genes that share ontologies with RAB5A: view

Pathways & Interactions for RAB5A Gene

genes like me logo Genes that share pathways with RAB5A: view

SIGNOR curated interactions for RAB5A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RAB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036465 synaptic vesicle recycling IDA 16141272
GO:0045022 early endosome to late endosome transport IMP 17562788
GO:0045921 positive regulation of exocytosis IMP 19966785
GO:0051489 regulation of filopodium assembly IDA 14978216
GO:2000300 regulation of synaptic vesicle exocytosis IMP 16141272
genes like me logo Genes that share ontologies with RAB5A: view

Drugs & Compounds for RAB5A Gene

(13) Drugs for RAB5A Gene - From: Novoseek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma Target 0
Guanosine triphosphate Experimental Pharma Target 0
S-Oxymethionine Experimental Pharma Target 0
Guanosine monophosphate Experimental Pharma 0

(10) Additional Compounds for RAB5A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAB5A: view

Transcripts for RAB5A Gene

Unigene Clusters for RAB5A Gene

RAB5A, member RAS oncogene family:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB5A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9
SP1: - - -
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6: - - -

Relevant External Links for RAB5A Gene

GeneLoc Exon Structure for
RAB5A
ECgene alternative splicing isoforms for
RAB5A

Expression for RAB5A Gene

mRNA expression in normal human tissues for RAB5A Gene

Protein differential expression in normal tissues from HIPED for RAB5A Gene

This gene is overexpressed in Nasal epithelium (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB5A Gene



SOURCE GeneReport for Unigene cluster for RAB5A Gene Hs.475663

genes like me logo Genes that share expression patterns with RAB5A: view

Protein tissue co-expression partners for RAB5A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RAB5A Gene

Orthologs for RAB5A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB5A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RAB5A 35
  • 91.32 (n)
  • 98.6 (a)
RAB5A 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB5A 35
  • 95.19 (n)
  • 99.07 (a)
RAB5A 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab5a 35
  • 91.32 (n)
  • 98.14 (a)
Rab5a 16
Rab5a 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAB5A 35
  • 99.69 (n)
  • 100 (a)
RAB5A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab5a 35
  • 91.63 (n)
  • 97.67 (a)
oppossum
(Monodelphis domestica)
Mammalia RAB5A 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB5A 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB5A 35
  • 87.91 (n)
  • 95.81 (a)
RAB5A 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB5A 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab5a 35
  • 79.69 (n)
  • 93.02 (a)
zebrafish
(Danio rerio)
Actinopterygii rab5aa 35
  • 75.19 (n)
  • 93.02 (a)
rab5aa 36
  • 93 (a)
OneToMany
rab5ab 36
  • 92 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rab5 36
  • 73 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rab-5 35
  • 69.43 (n)
  • 79.02 (a)
rab-5 36
  • 77 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS21 36
  • 53 (a)
ManyToMany
YPT53 36
  • 46 (a)
ManyToMany
VPS21 38
thale cress
(Arabidopsis thaliana)
eudicotyledons RHA1 35
  • 66.48 (n)
  • 68.36 (a)
rice
(Oryza sativa)
Liliopsida Os.14113 35
Os12g0631100 35
  • 65.88 (n)
  • 70.41 (a)
corn
(Zea mays)
Liliopsida Zm.885 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11163 36
  • 67 (a)
OneToMany
Species with no ortholog for RAB5A:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • 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 RAB5A Gene

ENSEMBL:
Gene Tree for RAB5A (if available)
TreeFam:
Gene Tree for RAB5A (if available)

Paralogs for RAB5A Gene

Pseudogenes.org Pseudogenes for RAB5A Gene

genes like me logo Genes that share paralogs with RAB5A: view

Variants for RAB5A Gene

Sequence variations from dbSNP and Humsavar for RAB5A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1130393 -- 19,975,656(+) GAAAT(A/C)TGGGA reference, synonymous-codon
rs1049089 -- 19,975,678(+) AAGAA(A/C/G)GATAC reference, synonymous-codon, missense
rs1143451 -- 19,978,662(+) CTTCC(A/G)GGTGA intron-variant
rs2127956 -- 19,967,806(+) AATTG(A/C)AATGT intron-variant
rs2866630 -- 19,966,875(+) TCACA(A/G)CACAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB5A Gene

Variant ID Type Subtype PubMed ID
esv23068 CNV Gain+Loss 19812545
nsv433358 CNV Gain 18776910
esv35078 CNV Gain 17911159
esv2724999 CNV Deletion 23290073
esv2725000 CNV Deletion 23290073
nsv237606 CNV Loss 16902084
esv2725001 CNV Deletion 23290073
esv996397 CNV Deletion 20482838
esv1338718 CNV Deletion 17803354

Variation tolerance for RAB5A Gene

Residual Variation Intolerance Score: 33.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 11.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB5A Gene

HapMap Linkage Disequilibrium report
RAB5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB5A Gene

Disorders for RAB5A Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAB5A Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
motor neuron disease
  • motor neuron diseases
amyotrophic lateral sclerosis type 2
  • amyotrophic lateral sclerosis 2, juvenile
- elite association - COSMIC cancer census association via MalaCards
Search RAB5A in MalaCards View complete list of genes associated with diseases

Relevant External Links for RAB5A

Genetic Association Database (GAD)
RAB5A
Human Genome Epidemiology (HuGE) Navigator
RAB5A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB5A
genes like me logo Genes that share disorders with RAB5A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB5A Gene

Publications for RAB5A Gene

  1. Direct interaction of EEA1 with Rab5b. (PMID: 10491193) Callaghan J.M. … Stenmark H. (Eur. J. Biochem. 1999) 3 4 23 67
  2. Rab5 mediates caspase-8-promoted cell motility and metastasis. (PMID: 19923319) Torres V.A. … Stupack D.G. (Mol. Biol. Cell 2010) 3 23
  3. Rab GTPase regulation of VEGFR2 trafficking and signaling in endothelial cells. (PMID: 19372461) Jopling H.M. … Ponnambalam S. (Arterioscler. Thromb. Vasc. Biol. 2009) 3 23
  4. Rab5 isoforms differentially regulate the trafficking and degradation of epidermal growth factor receptors. (PMID: 19723633) Chen P.I. … Stahl P.D. (J. Biol. Chem. 2009) 3 23
  5. Rabex-5 is a Rab22 effector and mediates a Rab22-Rab5 signaling cascade in endocytosis. (PMID: 19759177) Zhu H. … Li G. (Mol. Biol. Cell 2009) 3 23

Products for RAB5A Gene

Sources for RAB5A Gene

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