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ITPA (human)

Overview ITPA Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions. Defects in ITPA are the cause of inosine triphosphate pyrophosphohydrolase deficiency (ITPAD). It is a common inherited trait characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes and also leukocytes and fibroblasts. The pathological consequences of ITPA deficiency, if any, are unknown. However, it might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs. Three different human populations have been reported with respect to their ITPase activity: high, mean (25% of high) and low activity. The variant Thr-32 is associated with complete loss of enzyme activity, may be by altering the local secondary structure of the protein. Heterozygotes for this polymorphism have 22.5% of the control activity: this is consistent with a dimeric structure of the enzyme. Belongs to the HAM1 NTPase family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB. Protein type: EC 3.6.1.19; Nucleotide Metabolism - pyrimidine; Xenobiotic Metabolism - drug metabolism - other enzymes; Hydrolase; Nucleotide Metabolism - purine Cellular Component: cytoplasm Molecular Function: metal ion binding; nucleotide binding Biological Process: ITP catabolic process; chromosome organization and biogenesis Reference #:  Q9BY32 (UniProtKB) Alt. Names/Synonyms: C20orf37; dJ794I6.3; HLC14-06-P; Inosine triphosphatase; inosine triphosphatase (nucleoside triphosphate pyrophosphatase); inosine triphosphatase-A; Inosine triphosphate pyrophosphatase; inosine triphosphate pyrophosphohydrolase; ITPA; ITPase; My049 protein; nucleoside triphosphate diphosphatase; Putative oncogene protein hlc14-06-p Gene Symbols: ITPA Molecular weight: 21,446 Da Basal Isoelectric point: 5.5  Predict pI for various phosphorylation states

Select Structure to View Below ITPA 2CAR - A/B=1-194 (human) 2I5D - A=1-194 (human) 2J4E - A/B/C/D/E/F/G/H=1-194 (human) 4F95 - A=1-194 (human)

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  RCSB PDB 2CAR 2I5D 2J4E 4F95  |  ENZYME  |  Phospho3D  |  DISEASE  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		K18	VFVtGNAKKLEEVVQ
0	5		K9-u	AASLVGKkIVFVtGN
0	2		T14-p	GKkIVFVtGNAKKLE
0	3		K56-u	PDEISIQkCQEAVRQ
0	1		K96-u	KWFLEKLkPEGLHQL
0	3		S111-p	LAGFEDKsAyALCTF
0	11		Y113-p	GFEDKsAyALCTFAL
0	1		C146	RIVAPRGCQDFGWDP
0	1		K169-u	QTYAEMPkAEKNAVS

	mouse
K18-a	VFVTGNAkKLEEVIQ
K9	AASLVGKKIVFVTGN
T14	GKKIVFVTGNAkKLE
K56-u	PDEISIQkCREAARQ
K96	KWFLQKLKPEGLHQL
S111-p	LAGFEDKsAYALCTF
Y113	GFEDKsAYALCTFAL
S146-p	QIVMPRGsRDFGWDP
K169	QTYAEMPKSEKNTIS

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