Showing Protein Inosine triphosphate pyrophosphatase (HMDBP00431)

• 5668
• HMDBP03327

1. ITPase
2. Inosine triphosphatase
3. Putative oncogene protein hlc14-06-p
4. Non-canonical purine NTP pyrophosphatase
5. Non-standard purine NTP pyrophosphatase
6. Nucleoside-triphosphate diphosphatase
7. Nucleoside-triphosphate pyrophosphatase
8. NTPase

• Adenine phosphoribosyltransferase deficiency (APRT)
• Adenosine Deaminase Deficiency
• Adenylosuccinate Lyase Deficiency
• AICA-Ribosiduria
• Azathioprine Action Pathway
• Beta Ureidopropionase Deficiency
• Dihydropyrimidinase Deficiency
• Drug metabolism - other enzymes
• Gout or Kelley-Seegmiller Syndrome
• Lesch-Nyhan Syndrome (LNS)
• Mercaptopurine Action Pathway
• Mitochondrial DNA depletion syndrome
• MNGIE (Mitochondrial Neurogastrointestinal Encephalopathy)
• Molybdenum Cofactor Deficiency
• Myoadenylate deaminase deficiency
• Purine metabolism
• Purine metabolism
• Purine Nucleoside Phosphorylase Deficiency
• Pyrimidine metabolism
• Pyrimidine metabolism
• Thioguanine Action Pathway
• UMP Synthase Deficiency (Orotic Aciduria)
• Xanthine Dehydrogenase Deficiency (Xanthinuria)
• Xanthinuria type I
• Xanthinuria type II

1. Cytoplasm

>585 bp
ATGGCGGCCTCATTGGTGGGGAAGAAGATCGTGTTTGTAACGGGGAACGCCAAGAAGCTG
GAGGAGGTCGTTCAGATTCTAGGAGATAAGTTTCCATGCACTTTGGTGGCACAGAAAATT
GACCTGCCGGAGTACCAAGGGGAGCCGGATGAGATTTCCATACAGAAATGTCAGGAGGCA
GTTCGCCAGGTACAGGGGCCCGTGCTGGTTGAGGACACTTGTCTGTGCTTCAATGCCCTT
GGAGGGCTCCCCGGCCCCTACATAAAGTGGTTTCTGGAGAAGTTAAAGCCTGAAGGTCTC
CACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTC
AGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCCGGACCTCGGGCCGGATC
GTGGCACCCAGAGGCTGCCAGGACTTTGGCTGGGACCCCTGCTTTCAGCCTGATGGATAT
GAGCAGACGTACGCAGAGATGCCTAAGGCGGAGAAGAACGCTGTCTCCCATCGCTTCCGG
GCCCTGCTGGAGCTGCAGGAATACTTTGGCAGTTTGGCAGCTTGA

• Ham1p_like (PF01725 )

>Inosine triphosphate pyrophosphatase
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEA
VRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFAL
STGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFR
ALLELQEYFGSLAA

• 2CAR
• 2I5D
• 2J4E

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3. Lin S, McLennan AG, Ying K, Wang Z, Gu S, Jin H, Wu C, Liu W, Yuan Y, Tang R, Xie Y, Mao Y: Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene. J Biol Chem. 2001 Jun 1;276(22):18695-701. Epub 2001 Mar 13. [PubMed:11278832 ]
4. Stenmark P, Kursula P, Flodin S, Graslund S, Landry R, Nordlund P, Schuler H: Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T. J Biol Chem. 2007 Feb 2;282(5):3182-7. Epub 2006 Nov 29. [PubMed:17138556 ]
5. Sumi S, Marinaki AM, Arenas M, Fairbanks L, Shobowale-Bakre M, Rees DC, Thein SL, Ansari A, Sanderson J, De Abreu RA, Simmonds HA, Duley JA: Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. Hum Genet. 2002 Oct;111(4-5):360-7. Epub 2002 Aug 15. [PubMed:12384777 ]
6. Cao H, Hegele RA: DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. J Hum Genet. 2002;47(11):620-2. [PubMed:12436200 ]