ITPA

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Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
PDB rendering based on 2car.
Available structures: 2car, 2i5d, 2j4e
Identifiers
Symbol(s) ITPA; C20orf37; HLC14-06-P; ITPase; dJ794I6.3
External IDs OMIM: 147520 MGI: 96622 HomoloGene: 6289
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 3704 16434
Ensembl ENSG00000125877 ENSMUSG00000074797
Uniprot Q9BY32 Q60I30
Refseq NM_033453 (mRNA)
NP_258412 (protein)		 NM_025922 (mRNA)
NP_080198 (protein)
Location Chr 20: 3.14 - 3.15 Mb Chr 2: 130.36 - 130.37 Mb
Pubmed search [1] [2]

Inosine triphosphatase (nucleoside triphosphate pyrophosphatase), also known as ITPA, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase).

[edit] 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
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