Aliases for RAB5A Gene

Aliases for RAB5A Gene

  • RAB5A, Member RAS Oncogene Family 2 3 5
  • RAS-Associated Protein RAB5A 2 3
  • Ras-Related Protein Rab-5A 3 4
  • RAB5 3 4
  • EC 3.6.5.2 4
  • RAB5A 5

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 Choroideremia. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Development HGF signaling pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB5C.

UniProtKB/Swiss-Prot Summary for RAB5A Gene

  • Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Active GTP-bound form 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 (PubMed:10818110, PubMed:14617813, PubMed:16410077, PubMed:15378032). Contributes to the regulation of filopodia extension (PubMed:14978216). Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan (PubMed:22660413). Regulates maturation of apoptotic cell-containing phagosomes, probably downstream of DYN2 and PIK3C3 (By similarity).

Gene Wiki entry for RAB5A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB5A Gene

Genomics for RAB5A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB5A 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
GH03J019945 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.8 838 5.3 BCLAF1 SP1 ZNF207 NCOR1 MYC ZNF600 IKZF1 SSRP1 JUND ZNF580 EFHB NONHSAG034575.2 RAB5A lnc-EFHB-2 KAT2B PP2D1 HSALNG0024574
GH03J020038 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.8 +94.9 94885 7.6 MYC NCOR1 IKZF1 ZNF600 ZNF580 ZNF10 ZSCAN16 NFIC ZIC2 ZBTB10 KAT2B HSALNG0024583-001 EFHB RAB5A piR-57387-034 SGO1
GH03J019930 Enhancer 1.1 FANTOM5 ENCODE 11.8 -15.4 -15388 1.1 IKZF1 ZNF592 BCL11A HES1 ARNT NBN RFX5 IRF4 NKRF ZNF316 EFHB RAB5A KAT2B HSPA8P18 lnc-PP2D1-1 KCNH8
GH03J020060 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 9.2 +114.0 114031 1.1 CEBPA YY1 CEBPB EP300 RXRA XRCC3 IRF9 THRAP3 JUND SPI1 KAT2B RAB5A HSALNG0024583-002 RF00017-3556 HSALNG0024583-001 SGO1
GH03J020053 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 6.1 +109.1 109092 4.5 ZNF600 IKZF1 JUND CEBPA ATF3 NFIC YY1 CEBPB DEK FEZF1 KAT2B RAB5A EFHB HSALNG0024583-002 piR-57387-034 HSALNG0024583-001 SGO1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB5A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB5A

Top Transcription factor binding sites by QIAGEN in the RAB5A gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-1
  • MRF-2
  • SRF
  • SRF (504 AA)

Genomic Locations for RAB5A Gene

Latest Assembly
chr3:19,947,097-19,985,175
(GRCh38/hg38)
Size:
38,079 bases
Orientation:
Plus strand

Previous Assembly
chr3:19,988,589-20,026,667
(GRCh37/hg19 by Entrez Gene)
Size:
38,079 bases
Orientation:
Plus strand

chr3:19,988,571-20,026,667
(GRCh37/hg19 by Ensembl)
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; phosphorylation at Ser-84 disrupts this interaction (PubMed:23815289, PubMed:29125462). Interacts with GDI2; phosphorylation at Ser-84 disrupts the interaction (PubMed:29125462). Interacts with EEA1 (PubMed:10491193, PubMed:20534488). Interacts with RIN1 and GAPVD1, which regulate its pathway, probably by acting as a GEF (PubMed:11703925, PubMed:16410077). Interacts with RINL. Interacts with ALS2CL, SUN2, ZFYVE20 and RUFY1 (PubMed:10818110, PubMed:11062261, PubMed:15388334, PubMed:14617813, PubMed:16034420). Interacts with RABEP1; one RABEP1 homodimer binds two RAB5A chains, but at opposite sides of the dimer (PubMed:15378032). Interacts with OCRL (PubMed:25869668). Interacts with INPP5F. May be a component of a complex composed of RAB5A, DYN2 and PIK3C3 (By similarity). Does not interact with BLOC-3 complex (heterodimer of HPS1 and HPS4) (By similarity). Interacts with CLN5 (PubMed:22431521). Interacts with APPL2 (By similarity). Interacts with F8A1/F8A2/F8A3 (By similarity). Found in a complex with F8A1/F8A2/F8A3, HTT and RAB5A; mediates the recruitment of HTT by RAB5A onto early endosomes (By similarity).

    Three dimensional structures from OCA and Proteopedia for RAB5A Gene

    Alternative splice isoforms for RAB5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB5A Gene

Post-translational modifications for RAB5A Gene

  • Phosphorylation of Ser-84 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including RAB GDP dissociation inhibitors GDI1 and GDI2.
  • Ubiquitination at Lys134
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB5A Gene

Antibodies for research

  • Abcam antibodies for RAB5A

No data available for DME Specific Peptides for RAB5A Gene

Domains & Families for RAB5A Gene

Gene Families for RAB5A Gene

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

Protein Domains for RAB5A Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature

Suggested Antigen Peptide Sequences for RAB5A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51867, highly similar to Ras-related protein Rab-5A (B4DJA5_HUMAN)
  • cDNA, FLJ93000, Homo sapiens RAB5A, member RAS oncogene family (RAB5A), mRNA (Q6FI44_HUMAN)
  • Ras-related protein Rab-5A (RAB5A_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Active GTP-bound form 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 (PubMed:10818110, PubMed:14617813, PubMed:16410077, PubMed:15378032). Contributes to the regulation of filopodia extension (PubMed:14978216). Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan (PubMed:22660413). Regulates maturation of apoptotic cell-containing phagosomes, probably downstream of DYN2 and PIK3C3 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.2; Evidence={ECO:0000269|PubMed:15378032};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP.
GENATLAS Biochemistry:
RAB5A,Ras oncogene superfamily member,located in early endosomes

Enzyme Numbers (IUBMB) for RAB5A Gene

Phenotypes From GWAS Catalog for RAB5A Gene

Gene Ontology (GO) - Molecular Function for RAB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity TAS,IDA 15378032
GO:0005515 protein binding IPI 7957092
GO:0005525 GTP binding IDA 15378032
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with RAB5A: view
genes like me logo Genes that share phenotypes with RAB5A: view

Animal Models for RAB5A Gene

MGI Knock Outs for RAB5A:
  • Rab5a Rab5a<tm1b(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB5A

No data available for 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. Cytoplasmic vesicle, phagosome membrane. Endosome membrane. 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
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 RAB5A gene
Compartment Confidence
endosome 5
cytosol 5
plasma membrane 4
extracellular 4
cytoskeleton 4
mitochondrion 4
endoplasmic reticulum 3
lysosome 3
golgi apparatus 3
peroxisome 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 18034774
GO:0005768 endosome ISS --
GO:0005769 early endosome TAS,IDA 15078902
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

Pathways by source for RAB5A Gene

6 GeneGo (Thomson Reuters) pathways for RAB5A Gene
  • Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
  • Delta508-CFTR traffic / Sorting endosome formation in CF
  • Development EGFR signaling via small GTPases
  • Normal wtCFTR traffic / Sorting endosome formation
  • Transport Clathrin-coated vesicle cycle
4 Qiagen pathways for RAB5A Gene
  • EGF Pathway
  • Epithelial Tight Junctions
  • Remodeling of Adherens Junctions
  • SMAD Signaling Network
1 Cell Signaling Technology pathway for RAB5A Gene

SIGNOR curated interactions for RAB5A Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for RAB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006886 intracellular protein transport IBA 21873635
GO:0006897 endocytosis TAS,IDA 15378032
GO:0006909 phagocytosis IEA --
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with RAB5A: view

Drugs & Compounds for RAB5A Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma Target 0
Guanosine triphosphate Experimental Pharma Target 0
L-methionine (S)-S-oxide Experimental Pharma Target 0
Guanosine monophosphate Experimental Pharma 0

(9) 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

mRNA/cDNA for RAB5A Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB5A

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

Expression for RAB5A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB5A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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, MaxQB, and MOPED for RAB5A Gene



Protein tissue co-expression partners for RAB5A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB5A

SOURCE GeneReport for Unigene cluster for RAB5A Gene:

Hs.475663

Evidence on tissue expression from TISSUES for RAB5A Gene

  • Nervous system(4.9)
  • Kidney(3.5)
  • Skin(3.2)
  • Heart(2.9)
  • Liver(2.8)
  • Spleen(2.8)
  • Lung(2.8)
  • Muscle(2.7)
  • Intestine(2.7)
  • Blood(2.7)
  • Lymph node(2.6)
  • Thyroid gland(2.6)
  • Adrenal gland(2.5)
  • Bone marrow(2.5)
  • Stomach(2.4)
  • Pancreas(2.3)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with RAB5A: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.69 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB5A 30
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB5A 29 30
  • 95.19 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB5A 30
  • 94 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab5a 29
  • 91.63 (n)
Mouse
(Mus musculus)
Mammalia Rab5a 29 16 30
  • 91.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB5A 29 30
  • 91.32 (n)
OneToOne
Chicken
(Gallus gallus)
Aves RAB5A 29 30
  • 87.91 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB5A 30
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab5a 29
  • 79.69 (n)
Zebrafish
(Danio rerio)
Actinopterygii rab5ab 30
  • 92 (a)
OneToMany
rab5aa 29 30
  • 75.19 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Rab5 30
  • 73 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rab-5 29 30
  • 69.43 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS21 30 32
  • 53 (a)
ManyToMany
YPT53 30
  • 46 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RHA1 29
  • 66.48 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0631100 29
  • 65.88 (n)
Os.14113 29
Corn
(Zea mays)
Liliopsida Zm.885 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11163 30
  • 67 (a)
OneToMany
Species where no ortholog for RAB5A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RAB5A: view image
Alliance of Genome Resources:
Additional Orthologs for RAB5A

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB5A Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs79708928 Benign: not provided 19,983,742(+) A/G
NM_004162.5(RAB5A):c.567A>G (p.Pro189=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB5A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv1338718 CNV deletion 17803354
esv23068 CNV gain+loss 19812545
esv2724999 CNV deletion 23290073
esv2725000 CNV deletion 23290073
esv2725001 CNV deletion 23290073
esv35078 CNV gain 17911159
esv3893667 CNV gain 25118596
esv996397 CNV deletion 20482838
nsv1010123 CNV gain 25217958
nsv1072676 CNV deletion 25765185
nsv1147701 CNV deletion 26484159
nsv237606 CNV deletion 16902084
nsv433358 CNV gain 18776910
nsv956838 CNV deletion 24416366
nsv997486 CNV gain 25217958

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)

Additional Variant Information for RAB5A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB5A
Leiden Open Variation Database (LOVD)
RAB5A

SNP Genotyping and Copy Number Assays for research

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

Disorders for RAB5A Gene

MalaCards: The human disease database

(22) MalaCards diseases for RAB5A Gene - From: COP and GCD

Disorder Aliases PubMed IDs
motor neuron disease
  • motor neuron diseases
choroideremia
  • chm
human monocytic ehrlichiosis
  • ehrlichiosis chafeensis
rabies
  • lyssa
autosomal dominant non-syndromic intellectual disability 5
  • mrd5
- elite association - COSMIC cancer census association via MalaCards
Search RAB5A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB5A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 … Stenmark H (European journal of biochemistry 1999) 3 4 22
  2. Sac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway. (PMID: 25869668) Nakatsu F … De Camilli P (The Journal of cell biology 2015) 3 4
  3. Rab1a and Rab5a preferentially bind to binary lipid compositions with higher stored curvature elastic energy. (PMID: 23815289) Kirsten ML … Ces O (Molecular membrane biology 2013) 3 4
  4. The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. (PMID: 22431521) Mamo A … Lefrancois S (Molecular and cellular biology 2012) 3 4
  5. Structural basis for Rab GTPase recognition and endosome tethering by the C2H2 zinc finger of Early Endosomal Autoantigen 1 (EEA1). (PMID: 20534488) Mishra A … Lambright DG (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4

Products for RAB5A Gene

  • Addgene plasmids for RAB5A

Sources for RAB5A Gene