This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have... See more...

Aliases for RAB4A Gene

Aliases for RAB4A Gene

  • RAB4A, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-4A 3 4
  • RAB4 3 4
  • HTLV-1 Related Endogenous Sequence 3
  • HRES-1/RAB4 3
  • HRES-1 3
  • HRES1 3

External Ids for RAB4A Gene

Previous HGNC Symbols for RAB4A Gene

  • RAB4

Previous GeneCards Identifiers for RAB4A Gene

  • GC01P227854
  • GC01P225101
  • GC01P225807
  • GC01P226368
  • GC01P225713
  • GC01P227473
  • GC01P229406
  • GC01P199897

Summaries for RAB4A Gene

Entrez Gene Summary for RAB4A Gene

  • This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

GeneCards Summary for RAB4A Gene

RAB4A (RAB4A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB4A include Pontocerebellar Hypoplasia, Type 2E and Charcot-Marie-Tooth Disease, Type 4D. Among its related pathways are Metabolism of proteins and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include GTP binding and protein transporter activity. An important paralog of this gene is RAB4B.

UniProtKB/Swiss-Prot Summary for RAB4A Gene

  • Protein transport. Plays a role in vesicular traffic. Mediates VEGFR2 endosomal trafficking to enhance VEGFR2 signaling.

Gene Wiki entry for RAB4A Gene

Additional gene information for RAB4A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB4A Gene

Genomics for RAB4A Gene

GeneHancer (GH) Regulatory Elements for RAB4A Gene

Promoters and enhancers for RAB4A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB4A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB4A

Top Transcription factor binding sites by QIAGEN in the RAB4A gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • HNF-3beta
  • Lhx3a
  • LHX3b
  • RORalpha1
  • RORalpha2

Genomic Locations for RAB4A Gene

Genomic Locations for RAB4A Gene
chr1:229,271,062-229,305,894
(GRCh38/hg38)
Size:
34,833 bases
Orientation:
Plus strand
chr1:229,406,822-229,441,641
(GRCh37/hg19)
Size:
34,820 bases
Orientation:
Plus strand

Genomic View for RAB4A Gene

Genes around RAB4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB4A Gene

Proteins for RAB4A Gene

  • Protein details for RAB4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20338-RAB4A_HUMAN
    Recommended name:
    Ras-related protein Rab-4A
    Protein Accession:
    P20338
    Secondary Accessions:
    • Q5T7P7
    • Q9BQ44

    Protein attributes for RAB4A Gene

    Size:
    218 amino acids
    Molecular mass:
    24390 Da
    Quaternary structure:
    • Interacts with SGSM1, SGSM2 and SGSM3 (By similarity). Interacts with RAB11FIP1, RABEP1, ZFYVE20 and RUFY1 (PubMed:10698684, PubMed:11786538, PubMed:11788822, PubMed:14617813, PubMed:15280022, PubMed:16034420). Interacts (membrane-bound form) with NDRG1; the interaction involves NDRG1 in vesicular recycling of E-cadherin (PubMed:17786215). Interacts (in GTP-bound form) with GRIPAP1 (via N-terminus) (PubMed:20098723). Interacts with RABEP1 and RBSN (PubMed:20098723). Does not interact with HPS4 (By similarity). Interacts with RABEP2; this interaction may mediate VEGFR2 cell surface expression (PubMed:29425100).
    SequenceCaution:
    • Sequence=AAA60244.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAB4A Gene

neXtProt entry for RAB4A Gene

Post-translational modifications for RAB4A Gene

Other Protein References for RAB4A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB4A Gene

Domains & Families for RAB4A Gene

Gene Families for RAB4A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB4A Gene

Blocks:
  • Transforming protein P21 RAS signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAB4A Gene

GenScript: Design optimal peptide antigens:
  • Ras-related protein Rab-4A (RAB4A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20338

UniProtKB/Swiss-Prot:

RAB4A_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 RAB4A: view

Function for RAB4A Gene

Molecular function for RAB4A Gene

UniProtKB/Swiss-Prot Function:
Protein transport. Plays a role in vesicular traffic. Mediates VEGFR2 endosomal trafficking to enhance VEGFR2 signaling.

Phenotypes From GWAS Catalog for RAB4A Gene

Gene Ontology (GO) - Molecular Function for RAB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity IEA --
GO:0003924 GTPase activity IEA,IDA 15907487
GO:0005515 protein binding IPI 16034420
GO:0005525 GTP binding IEA,IDA 15907487
GO:0019003 GDP binding IDA 15907487
genes like me logo Genes that share ontologies with RAB4A: view
genes like me logo Genes that share phenotypes with RAB4A: view

Animal Models for RAB4A Gene

MGI Knock Outs for RAB4A:
  • Rab4a Rab4a<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for RAB4A Gene

miRTarBase miRNAs that target RAB4A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB4A

Clone Products

  • Addgene plasmids for RAB4A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB4A Gene

Localization for RAB4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB4A Gene

Membrane; Peripheral membrane protein. Cytoplasm. Early endosome membrane; Peripheral membrane protein. Recycling endosome membrane; Peripheral membrane protein. Note=Generally associated with membranes. Cytoplasmic when phosphorylated by CDK1. {ECO:0000269 PubMed:1425574}.

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 RAB4A gene
Compartment Confidence
extracellular 5
endosome 5
plasma membrane 4
cytosol 4
lysosome 3
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RAB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IBA 21873635
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAB4A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB4A Gene

Pathways & Interactions for RAB4A Gene

genes like me logo Genes that share pathways with RAB4A: view

Pathways by source for RAB4A Gene

4 GeneGo (Thomson Reuters) pathways for RAB4A Gene
  • Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
  • wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
2 Qiagen pathways for RAB4A Gene
  • Epithelial Tight Junctions
  • Insulin Receptor Pathway
1 Cell Signaling Technology pathway for RAB4A Gene

SIGNOR curated interactions for RAB4A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RAB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006886 intracellular protein transport IBA 21873635
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0015031 protein transport IEA --
GO:0019882 antigen processing and presentation IMP 19717423
genes like me logo Genes that share ontologies with RAB4A: view

Drugs & Compounds for RAB4A Gene

(4) Additional Compounds for RAB4A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAB4A: view

Transcripts for RAB4A Gene

mRNA/cDNA for RAB4A Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB4A

Clone Products

  • Addgene plasmids for RAB4A

Alternative Splicing Database (ASD) splice patterns (SP) for RAB4A Gene

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

Relevant External Links for RAB4A Gene

GeneLoc Exon Structure for
RAB4A

Expression for RAB4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB4A Gene

Protein differential expression in normal tissues from HIPED for RAB4A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.5) and Brain (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB4A Gene



Protein tissue co-expression partners for RAB4A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB4A

SOURCE GeneReport for Unigene cluster for RAB4A Gene:

Hs.296169

Evidence on tissue expression from TISSUES for RAB4A Gene

  • Nervous system(4.8)
  • Skin(4.4)
  • Heart(2.4)
  • Muscle(2.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with RAB4A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB4A Gene

Orthologs for RAB4A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAB4A Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia RAB4A 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB4A 31 30
  • 93.73 (n)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAB4A 31
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB4A 31 30
  • 90.98 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rab4a 17 31 30
  • 86.54 (n)
rat
(Rattus norvegicus)
Mammalia Rab4a 30
  • 86.54 (n)
chicken
(Gallus gallus)
Aves RAB4A 31 30
  • 85.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB4A 31
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7138 30
African clawed frog
(Xenopus laevis)
Amphibia rab4a-prov 30
zebrafish
(Danio rerio)
Actinopterygii rab4a 31 30
  • 79.5 (n)
OneToOne
wufc93b03 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10002 30
fruit fly
(Drosophila melanogaster)
Insecta Rab4 31 32
  • 77 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F11A5.4 32
  • 53 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 69 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00889 30
  • 55.14 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ypt4 30
  • 53.2 (n)
Species where no ortholog for RAB4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAB4A Gene

ENSEMBL:
Gene Tree for RAB4A (if available)
TreeFam:
Gene Tree for RAB4A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB4A: view image

Paralogs for RAB4A Gene

genes like me logo Genes that share paralogs with RAB4A: view

Variants for RAB4A Gene

Additional dbSNP identifiers (rs#s) for RAB4A Gene

Structural Variations from Database of Genomic Variants (DGV) for RAB4A Gene

Variant ID Type Subtype PubMed ID
esv25148 CNV loss 19812545
esv2673164 CNV deletion 23128226
esv3589070 CNV loss 21293372
esv3589072 CNV gain 21293372
nsv549299 CNV gain 21841781
nsv827119 CNV gain 20364138

Variation tolerance for RAB4A Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB4A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB4A Gene

Disorders for RAB4A Gene

MalaCards: The human disease database

(3) MalaCards diseases for RAB4A Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search RAB4A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB4A

genes like me logo Genes that share disorders with RAB4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB4A Gene

Publications for RAB4A Gene

  1. High resolution crystal structures of human Rab4a in its active and inactive conformations. (PMID: 15907487) Huber SK … Scheidig AJ (FEBS letters 2005) 3 4 23 54
  2. Rab coupling protein (RCP), a novel Rab4 and Rab11 effector protein. (PMID: 11786538) Lindsay AJ … McCaffrey MW (The Journal of biological chemistry 2002) 3 4 23 54
  3. Divalent Rab effectors regulate the sub-compartmental organization and sorting of early endosomes. (PMID: 11788822) de Renzis S … Zerial M (Nature cell biology 2002) 3 4 23 54
  4. Reversible phosphorylation--dephosphorylation determines the localization of rab4 during the cell cycle. (PMID: 1425574) van der Sluijs P … Mellman I (The EMBO journal 1992) 3 4 23 54
  5. D-AKAP2 interacts with Rab4 and Rab11 through its RGS domains and regulates transferrin receptor recycling. (PMID: 19797056) Eggers CT … Taylor SS (The Journal of biological chemistry 2009) 3 23 54

Products for RAB4A Gene

Sources for RAB4A Gene