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RAB5A RAB5A, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 5868, updated on 6-Sep-2021

Summary

Official Symbol
RAB5Aprovided by HGNC
Official Full Name
RAB5A, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:9783
See related
Ensembl:ENSG00000144566 MIM:179512
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAB5
Expression
Ubiquitous expression in brain (RPKM 22.0), thyroid (RPKM 19.7) and 25 other tissues See more
Orthologs
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Genomic context

See RAB5A in Genome Data Viewer
Location:
3p24.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (19947097..19985175)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (19988589..20026667)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376984 Neighboring gene EF-hand domain family member B Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 18 Neighboring gene protein phosphatase 2C like domain containing 1 Neighboring gene RNA, U4 small nuclear 85, pseudogene Neighboring gene SAP18 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef-HLA-A (MHCI) interaction localizes with RAB5A-positive early endosomes PubMed
nef Interaction of HIV-1 Nef with PACS-1 occurs in cellular endosomes with markers RAB5 and LAMP-1 PubMed
nef Genome-wide shRNA screening identifies RAB5A, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed
nef Nef-triggered MHCII endocytosis requires Rab5 activity and lyst function, whereas lysosomal trafficking of internalized MHCII molecules requires Rab7 activity PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein activity IEA
Inferred from Electronic Annotation
more info
 
enables GDP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in amyloid-beta clearance by transcytosis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in early endosome to late endosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in phagocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in receptor internalization involved in canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of autophagosome assembly TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of endosome size IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of filopodium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of filopodium assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of long-term neuronal synaptic plasticity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of synaptic vesicle exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in synaptic vesicle recycling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in viral RNA genome replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
is_active_in anchored component of synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in axon terminus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic side of early endosome membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in early endosome membrane TAS
Traceable Author Statement
more info
 
located_in early phagosome ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endosome membrane TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in melanosome IEA
Inferred from Electronic Annotation
more info
 
located_in membrane raft IEA
Inferred from Electronic Annotation
more info
 
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in phagocytic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in phagocytic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in postsynaptic early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ruffle IEA
Inferred from Electronic Annotation
more info
 
located_in somatodendritic compartment IDA
Inferred from Direct Assay
more info
PubMed 
located_in synaptic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in terminal bouton IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ras-related protein Rab-5A
Names
RAS-associated protein RAB5A
NP_001278977.1
NP_004153.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001292048.2NP_001278977.1  ras-related protein Rab-5A isoform 2

    See identical proteins and their annotated locations for NP_001278977.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AK295992, BC018288, DA972638, DC330362
    Consensus CDS
    CCDS77710.1
    UniProtKB/Swiss-Prot
    P20339
    Related
    ENSP00000411941.1, ENST00000422242.1
    Conserved Domains (2) summary
    cd01860
    Location:20168
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
    pfam00071
    Location:22169
    Ras; Ras family
  2. NM_004162.5NP_004153.2  ras-related protein Rab-5A isoform 1

    See identical proteins and their annotated locations for NP_004153.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AK309287, AK312618, BC018288, BJ991078, DC330362
    Consensus CDS
    CCDS2633.1
    UniProtKB/Swiss-Prot
    P20339
    UniProtKB/TrEMBL
    A0A024R2K1
    Related
    ENSP00000273047.4, ENST00000273047.9
    Conserved Domains (1) summary
    cd01860
    Location:20182
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    19947097..19985175
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001740225.2 RNA Sequence

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