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FLASH GENE
Symbol ITPA contributors: mct - updated : 05-07-2016
HGNC name inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
HGNC id 6176
Corresponding disease
EIEE35 epileptic encephalopathy, early infantile, 35
Location 20p13      Physical location : 3.190.055 - 3.204.504
Synonym name
  • inosine triphosphate pyrophosphohydrolase
  • inosine triophosphatase A
  • putative oncogene protein hlc14-06-p
  • My049 protein
  • Synonym symbol(s) NTP, C20orf37, HLC14-06-P, ITPase, dJ794I6.3
    EC.number 3.1.6.19
    DNA
    TYPE functioning gene
    STRUCTURE 14.45 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure
  • promoter is associated with a CpG island and driven by Sp-family transcription factors
  • MAPPING cloned Y linked   status confirmed
    Physical map
    KIAA1442 20p13 KIAA1442 protein RPL19P1 20p13 ribosomal protein L19 pseudogene 1 CPXM 20p12.3-p13 carboxypeptidase X (M14 family) C20orf141 20p13 chromosome 20 open reading frame 141 LOC388781 20 similar to RIKEN cDNA 4933425O20 C20orf81 20p13 chromosome 20 open reading frame 81 VPS16 20p13-p12 vacuolar protein sorting 16 (yeast) PTPRA 20p13 protein tyrosine phosphatase, receptor type, A GNRH2 20p13 gonadotropin-releasing hormone 2 MRPS26 20p13 mitochondrial ribosomal protein S26 OXT 20p13 oxytocin, prepro- (neurophysin I) AVP 20p13 arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) UBCE7IP5 20p13 likely ortholog of mouse ubiquitin conjugating enzyme 7 interacting protein 5 FLJ13149 20p13 hypothetical protein FLJ13149 ProSAPiP1 20p13 ProSAPiP1 protein C20orf116 20p13 chromosome 20 open reading frame 116 ITPA 20p inosine triphosphatase (nucleoside triphosphate pyrophosphatase) SLC4A11 20p12 solute carrier family 4, sodium bicarbonate transporter-like, member 11 C20orf194 20p13 chromosome 20 open reading frame 194 UBE2V1P1 20p13 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 1 ATRN 20p13 attractin SF3A3P 20p13 splicing factor 3a, subunit 3 pseudogene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1206 - 194 - 2012 22384212
    8 - 1155 - 177 - 2012 22384212
    8 - 1110 - 110 - 2012 22384212
    7 - 1113 - 110 - 2012 22384212
    7 - 1205 - 110 - 2012 22384212
    6 - 1079 - 153 - 2012 22384212
    - - 1370 - 138 - 2012 22384212
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
    Endocrinepancreas   moderately
    Nervousbrain   moderately
    Reproductivemale systemprostate  moderately
    Respiratorylung   moderately
    Skin/Tegumentskin   highly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Itpa
    Homologene
    FAMILY
  • HAM1 NTPase protein family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • involved in the elimination of minor potentially mutagenic or clastogenic purine nucleotide triophosphates from the cell
  • nucleoside triphosphate pyrophosphatase that clean the precursor pools of the non-canonical triphosphates of inosine and xanthine
  • pivotal role of ITPA in maintaining genome stability and the prevention of apoptosis in human cells
  • is an intracellular enzyme that is responsible for the hydrolysis of the acidic anhydride bond between the alpha and beta phosphates in ITP, and other noncanonical nucleoside triphosphates, producing the corresponding nucleoside monophosphate and pyrophosphate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE35
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    low ITPA activity may induce mitochondrial abnormalities
    Susceptibility
  • to young-onset tuberculosis
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Itpa homozygous-null knock-out mice die before weaning and have gross cardiac abnormalities