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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
    NEW
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    Try the new Transcript table

    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)

    NEW Try the new Transcript table

    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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