ITPA

ITPA

Inosine triphosphatase (nucleoside triphosphate pyrophosphatase), also known as ITPA, is a human gene.cite web | title = Entrez Gene: ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3704| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3704| accessdate = ]

References

Further reading

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

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