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RAB5A (RAB5A, member RAS oncogene family)

Identity

Alias_namesRAB5
Other alias
HGNC (Hugo) RAB5A
LocusID (NCBI) 5868
Atlas_Id 42001
Location 3p24.3  [Link to chromosome band 3p24]
Location_base_pair Starts at 19988572 and ends at 20026667 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
RAB5A (3p24.3) / PRKAB2 (1q21.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)RAB5A   9783
Cards
Entrez_Gene (NCBI)RAB5A  5868  RAB5A, member RAS oncogene family
AliasesRAB5
GeneCards (Weizmann)RAB5A
Ensembl hg19 (Hinxton)ENSG00000144566 [Gene_View]  chr3:19988572-20026667 [Contig_View]  RAB5A [Vega]
Ensembl hg38 (Hinxton)ENSG00000144566 [Gene_View]  chr3:19988572-20026667 [Contig_View]  RAB5A [Vega]
ICGC DataPortalENSG00000144566
TCGA cBioPortalRAB5A
AceView (NCBI)RAB5A
Genatlas (Paris)RAB5A
WikiGenes5868
SOURCE (Princeton)RAB5A
Genetics Home Reference (NIH)RAB5A
Genomic and cartography
GoldenPath hg19 (UCSC)RAB5A  -     chr3:19988572-20026667 +  3p24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RAB5A  -     3p24.3   [Description]    (hg38-Dec_2013)
EnsemblRAB5A - 3p24.3 [CytoView hg19]  RAB5A - 3p24.3 [CytoView hg38]
Mapping of homologs : NCBIRAB5A [Mapview hg19]  RAB5A [Mapview hg38]
OMIM179512   
Gene and transcription
Genbank (Entrez)AF464088 AF498936 AK295992 AK309287 AK312618
RefSeq transcript (Entrez)NM_001292048 NM_004162
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)RAB5A
Cluster EST : UnigeneHs.475663 [ NCBI ]
CGAP (NCI)Hs.475663
Alternative Splicing GalleryENSG00000144566
Gene ExpressionRAB5A [ NCBI-GEO ]   RAB5A [ EBI - ARRAY_EXPRESS ]   RAB5A [ SEEK ]   RAB5A [ MEM ]
Gene Expression Viewer (FireBrowse)RAB5A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5868
GTEX Portal (Tissue expression)RAB5A
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20339   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20339  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20339
Splice isoforms : SwissVarP20339
PhosPhoSitePlusP20339
Domaine pattern : Prosite (Expaxy)RAB (PS51419)   
Domains : Interpro (EBI)P-loop_NTPase    Small_GTP-bd_dom    Small_GTPase    Small_GTPase_Rab_type   
Domain families : Pfam (Sanger)Ras (PF00071)   
Domain families : Pfam (NCBI)pfam00071   
Domain families : Smart (EMBL)RAB (SM00175)  
Conserved Domain (NCBI)RAB5A
DMDM Disease mutations5868
Blocks (Seattle)RAB5A
PDB (SRS)1N6H    1N6I    1N6K    1N6L    1N6N    1N6O    1N6P    1N6R    1R2Q    1TU3    1TU4    3MJH    4Q9U   
PDB (PDBSum)1N6H    1N6I    1N6K    1N6L    1N6N    1N6O    1N6P    1N6R    1R2Q    1TU3    1TU4    3MJH    4Q9U   
PDB (IMB)1N6H    1N6I    1N6K    1N6L    1N6N    1N6O    1N6P    1N6R    1R2Q    1TU3    1TU4    3MJH    4Q9U   
PDB (RSDB)1N6H    1N6I    1N6K    1N6L    1N6N    1N6O    1N6P    1N6R    1R2Q    1TU3    1TU4    3MJH    4Q9U   
Structural Biology KnowledgeBase1N6H    1N6I    1N6K    1N6L    1N6N    1N6O    1N6P    1N6R    1R2Q    1TU3    1TU4    3MJH    4Q9U   
SCOP (Structural Classification of Proteins)1N6H    1N6I    1N6K    1N6L    1N6N    1N6O    1N6P    1N6R    1R2Q    1TU3    1TU4    3MJH    4Q9U   
CATH (Classification of proteins structures)1N6H    1N6I    1N6K    1N6L    1N6N    1N6O    1N6P    1N6R    1R2Q    1TU3    1TU4    3MJH    4Q9U   
SuperfamilyP20339
Human Protein AtlasENSG00000144566
Peptide AtlasP20339
HPRD01542
IPIIPI00023510   IPI00797838   IPI00927674   IPI00927919   IPI00924632   IPI00927292   
Protein Interaction databases
DIP (DOE-UCLA)P20339
IntAct (EBI)P20339
FunCoupENSG00000144566
BioGRIDRAB5A
STRING (EMBL)RAB5A
ZODIACRAB5A
Ontologies - Pathways
QuickGOP20339
Ontology : AmiGOruffle  GTPase activity  protein binding  GTP binding  cytoplasm  endosome  early endosome  cytosol  plasma membrane  intracellular protein transport  endocytosis  nucleocytoplasmic transport  small GTPase mediated signal transduction  blood coagulation  synaptic vesicle  endosome membrane  actin cytoskeleton  GDP binding  regulation of endocytosis  endocytic vesicle  axon  dendrite  synaptic vesicle recycling  somatodendritic compartment  melanosome  neuronal cell body  terminal bouton  axon terminus  early endosome to late endosome transport  membrane raft  phagocytic vesicle  positive regulation of exocytosis  regulation of endosome size  regulation of filopodium assembly  extracellular exosome  cytoplasmic side of early endosome membrane  receptor internalization involved in canonical Wnt signaling pathway  regulation of synaptic vesicle exocytosis  regulation of autophagosome assembly  
Ontology : EGO-EBIruffle  GTPase activity  protein binding  GTP binding  cytoplasm  endosome  early endosome  cytosol  plasma membrane  intracellular protein transport  endocytosis  nucleocytoplasmic transport  small GTPase mediated signal transduction  blood coagulation  synaptic vesicle  endosome membrane  actin cytoskeleton  GDP binding  regulation of endocytosis  endocytic vesicle  axon  dendrite  synaptic vesicle recycling  somatodendritic compartment  melanosome  neuronal cell body  terminal bouton  axon terminus  early endosome to late endosome transport  membrane raft  phagocytic vesicle  positive regulation of exocytosis  regulation of endosome size  regulation of filopodium assembly  extracellular exosome  cytoplasmic side of early endosome membrane  receptor internalization involved in canonical Wnt signaling pathway  regulation of synaptic vesicle exocytosis  regulation of autophagosome assembly  
Pathways : BIOCARTARab GTPases Mark Targets In The Endocytotic Machinery [Genes]    The role of FYVE-finger proteins in vesicle transport [Genes]    Phosphoinositides and their downstream targets. [Genes]   
Pathways : KEGGRas signaling pathway    Endocytosis    Phagosome    Vasopressin-regulated water reabsorption    Amyotrophic lateral sclerosis (ALS)    Amoebiasis    Tuberculosis   
NDEx NetworkRAB5A
Atlas of Cancer Signalling NetworkRAB5A
Wikipedia pathwaysRAB5A
Orthology - Evolution
OrthoDB5868
GeneTree (enSembl)ENSG00000144566
Phylogenetic Trees/Animal Genes : TreeFamRAB5A
HOVERGENP20339
HOGENOMP20339
Homologs : HomoloGeneRAB5A
Homology/Alignments : Family Browser (UCSC)RAB5A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAB5A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAB5A
dbVarRAB5A
ClinVarRAB5A
1000_GenomesRAB5A 
Exome Variant ServerRAB5A
ExAC (Exome Aggregation Consortium)RAB5A (select the gene name)
Genetic variants : HAPMAP5868
Genomic Variants (DGV)RAB5A [DGVbeta]
DECIPHER (Syndromes)3:19988572-20026667  ENSG00000144566
CONAN: Copy Number AnalysisRAB5A 
Mutations
ICGC Data PortalRAB5A 
TCGA Data PortalRAB5A 
Broad Tumor PortalRAB5A
OASIS PortalRAB5A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAB5A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRAB5A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RAB5A
DgiDB (Drug Gene Interaction Database)RAB5A
DoCM (Curated mutations)RAB5A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAB5A (select a term)
intoGenRAB5A
Cancer3DRAB5A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM179512   
Orphanet
MedgenRAB5A
Genetic Testing Registry RAB5A
NextProtP20339 [Medical]
TSGene5868
GENETestsRAB5A
Huge Navigator RAB5A [HugePedia]
snp3D : Map Gene to Disease5868
BioCentury BCIQRAB5A
ClinGenRAB5A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5868
Chemical/Pharm GKB GenePA34143
Clinical trialRAB5A
Miscellaneous
canSAR (ICR)RAB5A (select the gene name)
Probes
Litterature
PubMed191 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAB5A
EVEXRAB5A
GoPubMedRAB5A
iHOPRAB5A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:16:36 CEST 2017

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