ITPA

Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
PDB rendering based on 2car.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 2car​, 2i5d​, 2j4e​
Identifiers
Symbols	ITPA ; C20orf37; HLC14-06-P; ITPase; dJ794I6.3
External IDs	Template:OMIM5 Template:MGI HomoloGene: 6289
Gene ontology Molecular function Template:GNF GO Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Inosine triphosphatase (nucleoside triphosphate pyrophosphatase), also known as ITPA, is a human gene.

The protein encoded by this gene hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. The encoded protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency. Two transcript variants encoding two different isoforms have been found for this gene. Also, at least two other transcript variants have been identified which are probably regulatory rather than protein-coding.

Further reading

• Holmes SL, Turner BM, Hirschhorn K (1979). "Human inosine triphosphatase: catalytic properties and population studies". Clin. Chim. Acta. 97 (2–3): 143–53. PMID 487601.CS1 maint: Multiple names: authors list (link)
• Fraser JH, Meyers H, Henderson JF; et al. (1976). "Individual variation in inosine triphosphate accumulation in human erythrocytes". Clin. Biochem. 8 (6): 353–64. PMID 1204209.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Clawson GA, Song YL, Schwartz AM; et al. (1992). "Interaction of human immunodeficiency virus type I Rev protein with nuclear scaffold nucleoside triphosphatase activity". Cell Growth Differ. 2 (11): 575–82. PMID 1667585.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lin S, McLennan AG, Ying K; et al. (2001). "Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene". J. Biol. Chem. 276 (22): 18695–701. doi:10.1074/jbc.M011084200. PMID 11278832.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Deloukas P, Matthews LH, Ashurst J; et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sumi S, Marinaki AM, Arenas M; et al. (2002). "Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency". Hum. Genet. 111 (4–5): 360–7. doi:10.1007/s00439-002-0798-z. PMID 12384777.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cao H, Hegele RA (2003). "DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency". J. Hum. Genet. 47 (11): 620–2. doi:10.1007/s100380200095. PMID 12436200.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Marinaki AM, Duley JA, Arenas M; et al. (2005). "Mutation in the ITPA gene predicts intolerance to azathioprine". Nucleosides Nucleotides Nucleic Acids. 23 (8–9): 1393–7. PMID 15571265.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Marinaki AM, Sumi S, Arenas M; et al. (2005). "Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population". Nucleosides Nucleotides Nucleic Acids. 23 (8–9): 1399–401. PMID 15571266.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Maeda T, Sumi S, Ueta A; et al. (2005). "Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population". Mol. Genet. Metab. 85 (4): 271–9. doi:10.1016/j.ymgme.2005.03.011. PMID 15946879.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Breen DP, Marinaki AM, Arenas M, Hayes PC (2005). "Pharmacogenetic association with adverse drug reactions to azathioprine immunosuppressive therapy following liver transplantation". Liver Transpl. 11 (7): 826–33. doi:10.1002/lt.20377. PMID 15973722.CS1 maint: Multiple names: authors list (link)
• Porta J, Kolar C, Kozmin SG; et al. (2006). "Structure of the orthorhombic form of human inosine triphosphate pyrophosphatase". Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 62 (Pt 11): 1076–81. doi:10.1107/S1744309106041790. PMID 17077483.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Arenas M, Duley J, Sumi S; et al. (2007). "The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene". Biochim. Biophys. Acta. 1772 (1): 96–102. doi:10.1016/j.bbadis.2006.10.006. PMID 17113761.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stenmark P, Kursula P, Flodin S; et al. (2007). "Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T". J. Biol. Chem. 282 (5): 3182–7. doi:10.1074/jbc.M609838200. PMID 17138556.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Atanasova S, Shipkova M, Svinarov D; et al. (2007). "Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6". Therapeutic drug monitoring. 29 (1): 6–10. doi:10.1097/FTD.0b013e3180308554. PMID 17304144.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)