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FLASH GENE
Symbol RAB18 contributors: mct - updated : 23-05-2012
HGNC name RAB18, member RAS oncogene family
HGNC id 14244
Corresponding disease
WARBM3 Warburg micro syndrome 3
Location 10p12.1      Physical location : 27.793.248 - 27.829.097
Synonym name
  • RAB18 small GTPase
  • Synonym symbol(s) RAB18LI1, RP11-148B2.1, WARBM3
    DNA
    TYPE functioning gene
    STRUCTURE 35.85 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2809 22.98 206 - 2005 16147880
    - - 5090 - 235 highly in testis 2005 16147880
    - - 4936 - 197 - 2005 16147880
    - - 4811 - 142 - 2005 16147880
    - - 4931 - 182 - 2005 16147880
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     mouth   moderately
    Endocrineneuroendocrinepituitary  highly
     parathyroid   moderately
    Nervousbrain   highly
    Urinarybladder   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell
    not specificadipocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to rattus Rab18 (98.54 pc)
    homolog to murine Rab18 (99.03 pc)
    Homologene
    FAMILY
  • small GTPase superfamily
  • Rab family
  • CATEGORY protooncogene
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    text
  • located at the cytosol but associates with a subpopulation of secretory granules after stimulation of the regulated secretory pathway, strongly suggesting that induction of secretion provokes RAB18 activation and recruitment to these organelles
  • basic FUNCTION
  • involved in endosomes and plasma membrane recycling
  • may relate to inflammation and some kinds of tumor
  • involved in the regulation of intracellular membrane trafficking and reorganization
  • in neuroendocrine cells, acts as a negative regulator of secretory activity, likely by impairing secretory granule transport
  • negatively regulates hormone secretion by interacting with secretory granules, in relation to the altered functioning of tumoral pituitary somatotropes causing acromegaly
  • localizes to lipid droplets and induces their close apposition to the endoplasmic reticulum-derived membrane
  • RAB18 and RAB43, strongly indicated roles in ER-Golgi trafficking
  • has a critical role in human brain and eye development and neurodegeneration
  • involved in insulin-mediated lipogenesis, as well as in beta-adrenergic-induced lipolysis, likely facilitating interaction of lipid droplets with ER membranes and the exchange of lipids between these compartments
  • essential role of Rab proteins potentially in Golgi organization and protein transport
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • ATP
  • GTP
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WARBM3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in somatotropinoma cells
    constitutional        
    impaired the lipogenic response to insulin, thereby suggesting that this GTPase promotes fat accumulation in adipocytes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • valuable target as a diagnostic and/or prognostic for human acromegaly
  • Therapy target
    SystemTypeDisorderPubmed
    osteoarticular  
    valuable target as a diagnostic, prognostic, and/or therapeutic tool for human acromegaly
    ANIMAL & CELL MODELS