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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
    Physical map
    SIN3B 19p13.11 SIN3 homolog B, transcriptional regulator (yeast) F2RL3 19p12 coagulation factor II (thrombin) receptor-like 3 VIP 6q24-q27 vasoactive intestinal peptide MGC20533 19p13.12 similar to RIKEN cDNA 2410004L22 gene (M. musculus) MYO9B 19p13.1 myosin IXB MDS032 19p13.12 uncharacterized hematopoietic stem/progenitor cells protein MDS032 FLJ22709 19p13.12 hypothetical protein FLJ22709 NR2F6 19p13.1 nuclear receptor subfamily 2, group F, member 6 MCC2 19p13 nuclear receptor subfamily 2, group F, member 6 HSPC142 19p13.12 HSPC142 protein FLJ39369 19p13.12 hypothetical protein FLJ39369 ABHD8 19p13.12 abhydrolase domain containing 8 MRPL34 19p13.1 mitochondrial ribosomal protein L33 MGC2594 19p13.12 hypothetical protein MGC2594 KIAA1623 19p13.12 KIAA1623 GTPBP3 19p13.12 GTP binding protein 3 (mitochondrial) PLVAP 19p13.2 plasmalemma vesicle associated protein BST2 19p13.2 bone marrow stromal cell antigen 2 LOC93343 19p13.12 hypothetical protein BC011840 LOC115861 19p13.12 hypothetical protein BC014127 SLC27A1 19p13.1 solute carrier family 27 (fatty acid transporter), member 1 PGLS 19p13.2 6-phosphogluconolactonase BCNP1 19p13.12 B-cell novel protein 1 FLJ22329 19p13.12 hypothetical protein FLJ22329 UNC13A 19p13.12 unc-13 homolog A (C. elegans) VCY2IP1 19p13.12 VCY2 interacting protein 1 KIAA0290 B3GNT3 19p13.1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 INSL3 19p13.1-p12 insulin-like 3 (Leydig cell) JAK3 19p13.1 Janus kinase 3 (a protein tyrosine kinase, leukocyte) RPL18A 19p13 ribosomal protein L18a SLC5A5 19p13.2-p12 solute carrier family 5 (sodium iodide symporter), member 5
    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