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    RAB32 RAB32, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 10981, updated on 15-Jun-2019

    Summary

    Official Symbol
    RAB32provided by HGNC
    Official Full Name
    RAB32, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:9772
    See related
    Ensembl:ENSG00000118508 MIM:612906
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015]
    Expression
    Broad expression in bone marrow (RPKM 49.7), spleen (RPKM 19.8) and 23 other tissues See more
    Orthologs

    Genomic context

    See RAB32 in Genome Data Viewer
    Location:
    6q24.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (146543692..146554956)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (146864828..146876086)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene glutamate metabotropic receptor 1 Neighboring gene FUN14 domain containing 2 pseudogene 3 Neighboring gene RNA, 5S ribosomal pseudogene 222 Neighboring gene uncharacterized LOC101928661 Neighboring gene androglobin Neighboring gene uncharacterized LOC105378041

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
    NHGRI GWA Catalog
    Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
      RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
    • RAB geranylgeranylation, organism-specific biosystem (from REACTOME)
      RAB geranylgeranylation, organism-specific biosystemHuman cells have more than 60 RAB proteins that are involved in trafficking of proteins in the endolysosomal system. These small GTPases contribute to trafficking specificity by localizing to the mem...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    AP-1 adaptor complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT AP-2 adaptor complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    AP-3 adaptor complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    BLOC-2 complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    GTP binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    GTP-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Rab protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    antigen processing and presentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endosome to melanosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    melanosome assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phagosome maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Mitochondria-associated ER Membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT early endosome lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    melanosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome membrane TAS
    Traceable Author Statement
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phagocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phagocytic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    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_006834.5NP_006825.1  ras-related protein Rab-32

      See identical proteins and their annotated locations for NP_006825.1

      Status: REVIEWED

      Source sequence(s)
      BC015061, BQ018663
      Consensus CDS
      CCDS5210.1
      UniProtKB/Swiss-Prot
      Q13637
      Related
      ENSP00000356465.3, ENST00000367495.4
      Conserved Domains (1) summary
      cd04107
      Location:26224
      Rab32_Rab38; Rab GTPase families 18 (Rab18) and 32 (Rab32)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      146543833..146554953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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