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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
Location Xp22.2      Physical location : 13.707.239 - 13.727.942
Synonym name ras-related protein Rab-9A
Synonym symbol(s) RAB9, Rab-9A
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
Physical map
LOC139952 Xp22.31 similar to LIM domain kinase 2 (LIMK-2) MSL3L1 Xp22.3 male-specific lethal 3-like 1 (Drosophila) KIAA0316 Xp22.2 male-specific lethal 3-like 1 (Drosophila) PRPS2 Xp22.31 phosphoribosyl pyrophosphate synthetase 2 MRPL35P4 Xq22.31 phosphoribosyl pyrophosphate synthetase 2 TLR7 Xp22.3 toll-like receptor 7 TLR8 Xp22.3 toll-like receptor 8 TMSB4X Xq21.3-q22 thymosin, beta 4, X chromosome FAM9C Xp22.32 family with sequence similarity 9, member C LOC92552 Xp22.31 similar to homologue of MJD, high homology to a genomic sequence in Xp22 LOC286478 Xp22.31 hypothetical LOC286478 LOC389839 X similar to glutathione peroxidase 1 EGFL6 Xp22.3 EGF-like-domain, multiple 6 MGC17403 Xp22.31 hypothetical protein MGC17403 RAB9A Xp22.2 RAB9A, member RAS oncogene family SEDL Xp22.31 spondyloepiphyseal dysplasia, late OFD1 Xp22.2-p22.3 oral-facial-digital syndrome 1 GPM6B Xp22.2 glycoprotein M6B FLJ20514 Xp22.31 hypothetical protein FLJ20514 LOC286480 Xp22.31 similar to ubiquitin-conjugating enzyme UbcM2 GLRA2 Xp22.13 glycine receptor, alpha 2 LOC392428 X similar to nucleophosmin 1; nucleolar phosphoprotein B23; numatrin; nucleophosmin/nucleoplasmin family, member 1 FLJ34064 Xp22.31 hypothetical protein FLJ34064 MGC26706 Xp22.31 hypothetical protein MGC26706 ASB9 Xp ankyrin repeat and SOCS box-containing 9 ASB11 Xp22.31 ankyrin repeat and SOCS box-containing 11 PIGA Xp22.1 phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) FIGF Xp22.1 c-fos induced growth factor (vascular endothelial growth factor D) PIR Xp22.31 c-fos induced growth factor (vascular endothelial growth factor D) BMX Xp22.2 BMX non-receptor tyrosine kinase ACE2 Xp22 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 NX17 Xp22 kidney-specific membrane protein LOC340591 Xp22.31 similar to carbonic anhydrase VB, mitochondrial precursor; carbonic dehydratase
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