InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ITPA

Summary

InnateDB Protein

IDBP-363602.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ITPA

Protein Name

inosine triphosphatase (nucleoside triphosphate pyrophosphatase)

Synonyms

C20orf37; dJ794I6.3; HLC14-06-P;

Species

Homo sapiens

Ensembl Protein

ENSP00000413282

InnateDB Gene

IDBG-46106 (ITPA)

Protein Structure

UniProt Annotation

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. {ECO:0000255HAMAP-Rule:MF_03148, ECO:0000269PubMed:17090528}.

Subcellular Localization

Cytoplasm {ECO:0000255HAMAP-Rule:MF_03148, ECO:0000269PubMed:11278832}.

Disease Associations

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. {ECO:0000269PubMed:12384777, ECO:0000269PubMed:12436200, ECO:0000269Ref.2}. 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.

Tissue Specificity

Ubiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal gland.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0016787	hydrolase activity
GO:0035870	dITP diphosphatase activity
GO:0036220	ITP diphosphatase activity
GO:0036222	XTP diphosphatase activity
GO:0046872	metal ion binding

Biological Process

GO:0009204	deoxyribonucleoside triphosphate catabolic process
GO:0044281	small molecule metabolic process
GO:0055086	nucleobase-containing small molecule metabolic process