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

Gene ID: 10981, updated on 17-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
109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (146543833..146554953)
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 Sharpr-MPRA regulatory region 4102 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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