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Aliases for RAB5A Gene

Aliases for RAB5A Gene

  • RAB5A, Member RAS Oncogene Family 2 3
  • RAB5 3 4 6
  • RAS-Associated Protein RAB5A 2 3
  • Ras-Related Protein Rab-5A 3

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 borna disease and choroideremia. Among its related pathways are Ras signaling pathway and Endocytosis. 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.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RAB5A Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

    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 Lys116 and Lys134
  • 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 for RAB5A Gene

Gene Families for RAB5A Gene

HGNC:
  • RAB :RAB, member RAS oncogene

Graphical View of Domain Structure for InterPro Entry

P20339

UniProtKB/Swiss-Prot:

RAB5A_HUMAN :
  • P20339
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.

Gene Ontology (GO) - Molecular Function for RAB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IDA 15378032
GO:0005515 protein binding IPI 10491193
GO:0005525 GTP binding IDA 15378032
GO:0019001 guanyl nucleotide binding --
GO:0019003 GDP binding IDA 15378032
genes like me logo Genes that share ontologies with RAB5A: view

Phenotypes for RAB5A Gene

GenomeRNAi human phenotypes for RAB5A:
genes like me logo Genes that share phenotypes with RAB5A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAB5A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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. Alternates between membrane-bound and cytosolic forms.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for RAB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005622 intracellular --
GO:0005634 nucleus --
GO:0005737 cytoplasm IDA 21266579
GO:0005768 endosome ISS --
genes like me logo Genes that share ontologies with RAB5A: view

Pathways for RAB5A Gene

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

Gene Ontology (GO) - Biological Process for RAB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006184 obsolete GTP catabolic process --
GO:0006886 intracellular protein transport IBA --
GO:0006897 endocytosis IDA 15378032
GO:0006913 nucleocytoplasmic transport --
GO:0007165 signal transduction --
genes like me logo Genes that share ontologies with RAB5A: view

Compounds for RAB5A Gene

(3) HMDB Compounds for RAB5A Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1

(3) Drugbank Compounds for RAB5A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Guanosine-5'-Diphosphate
146-91-8 target
Guanosine-5'-Triphosphate
86-01-1 target
S-Oxymethionine
2006-10-2 target

(19) Novoseek inferred chemical compound relationships for RAB5A Gene

Compound -log(P) Hits PubMed IDs
phosphatidylinositol 3-phosphate 75 7
gdp 66.3 17
gtp 65.9 32
ptdins(3)p 57.6 5
phosphatidylinositol 50.3 10
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAB5A

Primer 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

Integrated Proteomics: protein expression 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 expressions with RAB5A: view

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
chimpanzee
(Pan troglodytes)
Mammalia RAB5A 35
  • 99.69 (n)
  • 100 (a)
RAB5A 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia RAB5A 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB5A 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab5a 35
  • 91.63 (n)
  • 97.67 (a)
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
VPS21 38
YPT53 36
  • 46 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons RHA1 35
  • 66.48 (n)
  • 68.36 (a)
corn
(Zea mays)
Liliopsida Zm.885 35
rice
(Oryza sativa)
Liliopsida Os.14113 35
Os12g0631100 35
  • 65.88 (n)
  • 70.41 (a)
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 MAF
rs1049089 -- 19,975,678(+) AAGAA(C/G)GATAC reference, missense
rs1130393 -- 19,975,656(+) GAAAT(A/C)TGGGA reference, synonymous-codon
rs1133328 -- 19,946,047(-) ACATT(A/C)AGTCT upstream-variant-2KB
rs1143451 -- 19,978,662(+) CTTCC(A/G)GGTGA intron-variant
rs2127956 -- 19,967,806(+) AATTG(A/C)AATGT 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

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

MalaCards: The human disease database. (3) Diseases for RAB5A Gene including...

Search for RAB5A Gene in MalaCards »

(5) Novoseek inferred disease relationships for RAB5A Gene

Disease -log(P) Hits PubMed IDs
motor neuron disease 42.4 2
down syndrome 6.21 2
inflammation 4.48 1
alzheimers disease 2.07 1
tuberculosis 0 4

Relevant External Links for RAB5A

Genetic Association Database (GAD)
RAB5A
Human Genome Epidemiology (HuGE) Navigator
RAB5A
genes like me logo Genes that share disorders with RAB5A: view

No data available for UniProtKB/Swiss-Prot 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
  2. The small GTPase rab5 functions as a regulatory factor in the early endocytic pathway. (PMID: 1516130) Bucci C. … Zerial M. (Cell 1992) 3 23
  3. Rabaptin-5 is a direct effector of the small GTPase Rab5 in endocytic membrane fusion. (PMID: 8521472) Stenmark H. … Zerial M. (Cell 1995) 3 23
  4. EEA1 links PI(3)K function to Rab5 regulation of endosome fusion. (PMID: 9697774) Simonsen A. … Stenmark H. (Nature 1998) 3 23
  5. Divalent Rab effectors regulate the sub-compartmental organization and sorting of early endosomes. (PMID: 11788822) de Renzis S. … Zerial M. (Nat. Cell Biol. 2002) 3 23

Products for RAB5A Gene

  • Addgene plasmids for RAB5A

Sources for RAB5A Gene

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