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
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
Protein Structure
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of nucleotides pathway
Metabolism pathway
KEGG
Purine metabolism pathway
Pyrimidine metabolism pathway
Drug metabolism pathway
INOH
Purine nucleotides nucleosides metabolism pathway
Pyrimidine nucleotides nucleosides metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9BY32
TrEMBL Q5NT82
UniProt Splice Variant
Entrez Gene 3704
UniGene
RefSeq NM_001267623 NM_033453 NM_181493
HUGO HGNC:6176
OMIM 147520
CCDS CCDS13051 CCDS46576 CCDS58762
HPRD 08856
IMGT
EMBL AB062127 AB196785 AF026816 AF063607 AF219116 AL109976 AL121891 BC010138 BI115811 CH471133 EF199841 EF213026
GenPept AAB82608 AAG43165 AAH10138 AAK21848 ABO70316 ABP01354 BAB93459 BAD81025 CAC16798 CAI19399 CAM27676 CAM28311 EAX10541
ImmGen ITPA (murine)
RNA Seq Atlas 3704