InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ITPA

Summary

InnateDB Gene

IDBG-46106.5

Last Modified

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

Gene Symbol

ITPA

Gene Name

inosine triphosphatase (nucleoside triphosphate pyrophosphatase)

Synonyms

C20orf37; dJ794I6.3; HLC14-06-P

Species

Homo sapiens

Ensembl Gene

ENSG00000125877

Encoded Proteins

IDBP-46108

inosine triphosphatase (nucleoside triphosphate pyrophosphatase)

IDBP-229660

inosine triphosphatase (nucleoside triphosphate pyrophosphatase)

IDBP-363602

inosine triphosphatase (nucleoside triphosphate pyrophosphatase)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 20:3208868-3223870

Strand

Forward strand

Band

p13

Transcripts

ENST00000380113	ENSP00000369456
ENST00000399838	ENSP00000382732
ENST00000455664	ENSP00000413282
ENST00000483354
ENST00000460676
ENST00000490838
ENST00000460550
ENST00000461029
ENST00000472295
ENST00000609835

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
GO:0047429	nucleoside-triphosphate diphosphatase activity

Biological Process

GO:0006193	ITP catabolic process
GO:0009204	deoxyribonucleoside triphosphate catabolic process
GO:0044281	small molecule metabolic process
GO:0051276	chromosome organization
GO:0055086	nucleobase-containing small molecule metabolic process

Cellular Component

GO:0005829

cytosol

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000074797

View Gene Order

ENSBTAG00000013776

Not yet available

Pathways

NETPATH

REACTOME

REACT_1698

Metabolism of nucleotides pathway

REACT_111217

Metabolism pathway

KEGG

hsa00240

Pyrimidine metabolism pathway

hsa00230

Purine metabolism pathway

hsa00983

Drug metabolism pathway

INOH

INOH website

Purine nucleotides nucleosides metabolism pathway

INOH website

Pyrimidine nucleotides nucleosides metabolism pathway

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

NM_001267623 NM_033453 NM_181493

HUGO

OMIM

CCDS

CCDS13051 CCDS46576 CCDS58762

HPRD

08856

IMGT

EMBL

GenPept

RNA Seq Atlas