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FLASH GENE
Symbol GEM contributors: mct/npt - updated : 16-06-2015
HGNC name GTP binding protein overexpressed in skeletal muscle
HGNC id 4234
Location 8q22.1      Physical location : 95.261.486 - 95.274.547
Synonym name
  • DNA segment, single copy, probe Cdy17a03
  • kinase-inducible Ras-like protein
  • RAS-like protein KIR
  • Synonym symbol(s) KIR, MGC26294
    DNA
    TYPE functioning gene
    STRUCTURE 13.07 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    text Variants 1 and 2 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 2195 33 296 - 2007 17107948
  • containing exon 1a (longer than 1b)
  • encoding for the same product as variant 2
  • 5 splicing 2080 33 296 - 2007 17107948
  • containing exon 1b (shorter than 1a)
  • encoding for the same product as variant 1
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   lowly
     thymus   lowly
    Nervousnervespinal nervesciatic   Rattus norvegicus
    Reproductivemale systemtestis  lowly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    Lymphoid    
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell
    NervousSchawnn cell Rattus norvegicus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period
    cell cycle     cell cycle, G1
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • G3-GTP binding domain
  • a RAS-related domain and a membrane-association motif
  • a 12-amino acid fragment in the C terminus found to be crucial for and sufficient to produce Ca(v)beta-dependent inhibition, suggesting that this region forms an inhibitory site
  • a three-AA motif in the core was also found to be critical, possibly forming another inhibitory site
  • HOMOLOGY
    interspecies homolog to murine Gem (95.59 pc)
    intraspecies homolog to RAD1
    Homologene
    FAMILY
  • small GTPase superfamily
  • Ras/Gem/Kir (RGK) family
  • Rad, Rem, Rem2, Gem/Kir (RGK) family of small GTP-binding proteins
  • CATEGORY signaling cytokine
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm,nuclear bodies
    basic FUNCTION
  • cell sprouting and reorganization of actin skeleton
  • possibly participating in receptor-mediated signal transduction at the plasma membrane
  • plays a role in regulating voltage-gated Ca2+ channels and cytoskeletal reorganization
  • endogenous GEM down-regulates the level of active RHOA and actin stress fibers
  • plays an important role in normal beta-cell function by regulation of calcium signalling.
  • small GTP-binding protein that plays a role in regulating Ca(2+) channels and cytoskeletal remodeling in interphase cells
  • spindle-associated protein and is required for proper mitotic progression
  • involved in regulation of voltage-gated calcium channel activity and inhibition of Rho kinase-mediated cytoskeletal reorganization, such as stress fiber formation and neurite retraction
  • plays an important role in cell-to-cell viral transmission
  • small guanosine triphosphate (GTP)-binding protein, involved in the regulation of voltage-gated calcium channel activity and cytoskeleton reorganization
  • plays a crucial role in the regulation of cortical actin cytoskeleton that undergoes active remodeling during mitosis
  • new role of GEM/GMIP/RHOA signaling in cortical actin regulation during early mitotic stages
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text cell shape
    PATHWAY
    metabolism
    signaling signal transduction
  • RHOA GTPase is an important effector of GEM/GMIP signaling
  • a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
  • KIF9
  • binding Ca2+/calmodulin promoting the cytoplasmic localization of GEM
  • KPNA1 binds to Kir/GEM, and its depletion using RNA interference impairs nuclear translocation of this RGK protein
  • GTP-bound GEM interacts with the membrane-cytoskeleton linker protein Ezrin in its active state, and GEM binds to active Ezrin in cells
  • interacting directly with the beta subunit (CACNB1) and then inhibiting high voltage activated Ca2+ channel activities
  • GEM contributes to the mitotic progression by maintaining correct spindle length through the kinesin KIF9
  • regulation of spindle positioning by GEM involves its downstream effector GMIP
  • cell & other
    REGULATION
    induced by mitogens
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    leads to stress fiber disruption, actin and cell shape remodeling and neurite elongation in interphase cells
    constitutional        
    loss of GEM leads to misaligned chromosomes and prometaphase delay
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Gem-deficient mice were glucose intolerant and had impaired glucose stimulated insulin secretion