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FLASH GENE
Symbol RAB9A contributors: mct/npt/pgu - updated : 29-09-2017
HGNC name RAB9A, member RAS oncogene family
HGNC id 9792
DNA
TYPE functioning gene
STRUCTURE 20.70 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
regionally located between Xpter and DXS1061
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1097 22.7 201 - 2016 26527546
2 - 1288 - 201 - 2016 26527546
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas    
Nervousbrain    
Reproductivemale systemprostate   
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated LipoP , Other
HOMOLOGY
interspecies homolog to murine Rab9
homolog to Drosophila rab7
Homologene
FAMILY
  • small GTPase superfamily
  • Rab family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • localized to endosomes
  • resides in a late endosome microdomain together with mannose 6-phosphate receptors (MPRs) and PLIN3
  • basic FUNCTION
  • involved in the transport of proteins between the endosomes and the trans Golgi network
  • GTPase activity
  • with the proteins with which it interacts seem critical for the maintenance of specific late endocytic compartments and endosome/lysosome localization
  • implicated in the regulation of endocytic pathways
  • regulates retrograde transport from late endosomes to the trans-Golgi network (TGN) through interaction with several effectors
  • RAB9A and RAB9B, which are essential for alternative autophagy, but not conventional macroautophagy, severely suppressed mitophagy
  • RAB9A and its co-regulatory GTPases control STX13-mediated cargo delivery to maturing melanosomes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text non-selective vesicle transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
  • interaction with BLOC-3, interaction mediated by HPS4 and the switch I and II regions of RAB9A
  • RAB9A stability on late endosomes required interaction with PLIN3
  • GCC2 ia a RAB9A effector that is required for Mannose 6-phosphate receptor recycling from endosomes to the TGN in living cells
  • RAB9A binding did not influence GAP activity of bead-bound SGSM2 protein
  • SGSM1 is a TBC domain-containing protein that binds to RAB9A specifically but is not a GAP for RAB9A
  • RAB9B can bind to SGSM1 probably in a similar manner as RAB9A
  • potential involvement of RAB9A in the regulation of the SGSM2 localization and in the trafficking of melanogenic enzymes (RAB32, RAB38, TYRP1)
  • RAB9A, competes with the catalytic subunit PPP2CA in binding to PPP2R1A, which has an important role in controlling the PPP2CA catalytic activity, compromised in several solid tumors and leukemias
  • HPS4 is required for activation of RAB32/RAB38 GTPases in melanogenesis, but its RAB9 activity is dispensable for melanogenesis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    actually led to an increase in the proportion of slow fibers in soleus muscle
    constitutional     --low  
    in severe cell vacuolation (resembling the phenotype seen in fibroblasts in Chediak-Higashi syndrome)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS