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FLASH GENE
Symbol GTPBP3 contributors: mct/npt - updated : 07-01-2015
HGNC name GTP binding protein 3 (mitochondrial)
HGNC id 14880
Location 19p13.11      Physical location : 17.445.790 - 17.453.539
Synonym name
  • GTP binding protein 3 (mitochondrial), isoform V
  • GTP-binding protein isoform IV
  • mitochondrial GTP-binding protein 1
  • Synonym symbol(s) MSS1, MTGP1, THDF1, GTPBG3, FLJ14700
    DNA
    TYPE virus associated
    STRUCTURE 5.18 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2589 52 492 - 2008 18852288
    8 - 2685 55 524 - 2008 18852288
    9 - 2526 - 471 - 2008 18852288
    - - 2605 - 514 - 2008 18852288
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   moderately
     thymus   moderately
    Cardiovascularheart   highly
    Digestiveintestinesmall intestine  moderately
     intestinelarge intestinecolon lowly
     liver   highly
    Nervousbrain   moderately
    Respiratorylung   lowly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain mediates a potassium-independent dimerization, which appears as an evolutionarily conserved property of the protein family (Villaroya 2008)
  • a mitochondria targeting pre-sequence
  • two GTP-binding domains and a SH3 domain
  • a p21 RASlike domain
  • an SRC homology-3 (SH3) domain
  • HOMOLOGY
    interspecies ortholog to murine Gtpbp3
    ortholog to rattus Gtpbp3_predicted
    Homologene
    FAMILY
  • GTP-binding protein family
  • era/mnmE GTP-binding protein family
  • MnmE subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    basic FUNCTION
  • modulates the manifestation of mitochondrial A1555G mutation associated to deafness
  • multidomain protein involved in mitochondrial tRNA modification (Villaroya 2008)
  • important function for GTPBP3 in efficient mitochondrial protein synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    contribute to the pathogenesis of some oxidative phosphorylation diseases (Villaroya 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS