Sequence of ITPA_HUMAN
EC Number:3.6.1.9
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
a nucleoside triphosphate + H2O = a nucleotide + diphosphate
Other sequences found for EC No. 3.6.1.9
General information:
Sequence
0 MAASLVGKKI VFVTGNAKKL EEVVQILGDK FPCTLVAQKI DLPEYQGEPD EISIQKCQEA
60 VRQVQGPVLV EDTCLCFNAL GGLPGPYIKW FLEKLKPEGL HQLLAGFEDK SAYALCTFAL
120 STGDPSQPVR LFRGRTSGRI VAPRGCQDFG WDPCFQPDGY EQTYAEMPKA EKNAVSHRFR
180 ALLELQEYFG SLAA
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
49259
Lin S.,McLennan A.G.,Ying K.,Wang Z.,Gu S.,Jin H.,Wu C.,Lu 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.
276
18695-18701
2001
49264
Deloukas P.,Matthews L.H.,Ashurst J.L.,Burton J.,Gilbert J.G.R.,Jones M.,Stavrides G.,Almeida J.P.,Babbage A.K.,Bagguley C.L.,Bailey J.,Barlow K.F.,Bates K.N.,Beard L.M.,Beare D.M.,Beasley O.P.,Bird C.P.,Blakey S.E.,Bridgeman A.M.,Brown A.J.,Buck D.,Burrill W.D.,Butler A.P.,Carder C.,Carter N.P.,Chapman J.C.,Clamp M.,Clark G.,Clark L.N.,Clark S.Y.,Clee C.M.,Clegg S.,Cobley V.E.,Collier R.E.,Connor R.E.,Corby N.R.,Coulson A.,Coville G.J.,Deadman R.,Dhami P.D.,Dunn M.,Ellington A.G.,Frankland J.A.,Fraser A.,French L.,Garner P.,Grafham D.V.,Griffiths C.,Griffiths M.N.D.,Gwilliam R.,Hall R.E.,Hammond S.,Harley J.L.,Heath P.D.,Ho S.,Holden J.L.,Howden P.J.,Huckle E.,Hunt A.R.,Hunt S.E.,Jekosch K.,Johnson C.M.,Johnson D.,Kay M.P.,Kimberley A.M.,King A.,Knights A.,Laird G.K.,Lawlor S.,Lehvaeslaiho M.H.,Leversha M.A.,Lloyd C.,Lloyd D.M.,Lovell J.D.,Marsh V.L.,Martin S.L.,McConnachie L.J.,McLay K.,McMurray A.A.,Milne S.A.,Mistry D.,Moore M.J.F.,Mullikin J.C.,Nickerson T.,Oliver K.,Parker A.,Patel R.,Pearce T.A.V.,Peck A.I.,Phillimore B.J.C.T.,Prathalingam S.R.,Plumb R.W.,Ramsay H.,Rice C.M.,Ross M.T.,Scott C.E.,Sehra H.K.,Shownkeen R.,Sims S.,Skuce C.D.,Smith M.L.,Soderlund C.,Steward C.A.,Sulston J.E.,Swann R.M.,Sycamore N.,Taylor R.,Tee L.,Thomas D.W.,Thorpe A.,Tracey A.,Tromans A.C.,Vaudin M.,Wall M.,Wallis J.M.,Whitehead S.L.,Whittaker P.,Willey D.L.,Williams L.,Williams S.A.,Wilming L.,Wray P.W.,Hubbard T.,Durbin R.M.,Bentley D.R.,Beck S.,Rogers J.
The DNA sequence and comparative analysis of human chromosome 20.
Nature
414
865-871
2001
49266
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
49269
Burgis N.E.,Cunningham R.P.
Substrate specificity of RdgB protein, a deoxyribonucleoside triphosphate pyrophosphohydrolase.
J. Biol. Chem.
282
3531-3538
2007
49270
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
49271
Kevelam S.H.,Bierau J.,Salvarinova R.,Agrawal S.,Honzik T.,Visser D.,Weiss M.M.,Salomons G.S.,Abbink T.E.,Waisfisz Q.,van der Knaap M.S.
Recessive ITPA mutations cause an early infantile encephalopathy.
Ann. Neurol.
78
649-658
2015
49272
Porta J.,Kolar C.,Kozmin S.G.,Pavlov Y.I.,Borgstahl G.E.
Structure of the orthorhombic form of human inosine triphosphate pyrophosphatase.
Acta Crystallogr. F
62
1076-1081
2006
49273
Stenmark P.,Kursula P.,Flodin S.,Graslund S.,Landry R.,Nordlund P.,Schueler H.
Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T.
J. Biol. Chem.
282
3182-3187
2007
49274
Sumi S.,Marinaki A.M.,Arenas M.,Fairbanks L.,Shobowale-Bakre M.,Rees D.C.,Thein S.L.,Ansari A.,Sanderson J.,De Abreu R.A.,Simmonds H.A.,Duley J.A.
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.
Hum. Genet.
111
360-367
2002
49275
Cao H.,Hegele R.A.
DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency.
J. Hum. Genet.
47
620-622
2002
