RBCC Red Blood Cell Collection

ITPA_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: ITPA , C20orf37 , My049, OK/SW-cl.9
Protein names and data: ITPA_HUMAN , Inosine triphosphate pyrophosphatase; ITPase; Inosine triphosphatase; 3.6.1.19 , Non-canonical purine NTP pyrophosphatase; Non-standard purine NTP pyrophosphatase; Nucleoside-triphosphate diphosphatase; Nucleoside-triphosphate pyrophosphatase; NTPase; Putative oncogene protein hlc14-06-p Lenght: 194 a.a.
Mass: 21446 Da
fasta formatted sequence
Function: 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.
Catalytic activity: A nucleoside triphosphate + H(2)O = a nucleotide + diphosphate.
Disease: ( OMIM: 147520 613850 ) Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:613850]: A common inherited condition characterized by the abnormal accumulation of inosine triphosphate in erythrocytes. It might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs. Note=The disease is caused by mutations affecting the gene represented in this entry. 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.
Cellular location: Cytoplasm.
Tissue specificity: Ubiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal gland.

Genetic variants

32 - 32 P -> T (in ITPAD; complete loss of enzymatic activity at homozygosity; partial loss of activity without ITP accumulation in heterozygous individuals; dbSNP:rs1127354). VAR_015576 1127354

Database cross-references

UniProt: Q9BY32
Ensembl: ENST00000380113
Ensembl: ENST00000399838
Ensembl: ENST00000455664
MIM: 147520
MIM: 613850
neXtProt: NX_Q9BY32
Antibodypedia: Q9BY32 (may not find the protein thus also not any antibody)
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