Homo sapiens Gene: ITPA

Summary
InnateDB Gene IDBG-46106.4
Last Modified 2011-02-17   [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)
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: 3189514-3204516
Strand Forward strand
Band p13
Transcripts
ENST00000380113  ENSP00000369456
ENST00000399838  ENSP00000382732
ENST00000455664  ENSP00000413282
ENST00000483354 
ENST00000460676 
ENST00000490838 
ENST00000460550 
ENST00000461029 
ENST00000472295 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
 
Predicted by orthology
Total 1 [view]
Gene Ontology
Accession GO Term
Molecular Function
GO:0000166 nucleotide binding
GO:0016787 hydrolase activity
GO:0035870 dITP diphosphatase activity
GO:0046872 metal ion binding
GO:0047429 nucleoside-triphosphate diphosphatase activity
Biological Process
GO:0006193 ITP catabolic process
GO:0051276 chromosome organization
Cellular Component
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000074797 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000013776 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_1698 Nucleotide metabolism
KEGG
hsa00983  Drug metabolism - other enzymes
hsa01100  Metabolic pathways
hsa00230  Purine metabolism
hsa00240  Pyrimidine metabolism
INOH
INOH website Purine nucleotides and Nucleosides metabolism
INOH website Pyrimidine Nucleotides and Nucleosides metabolism
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9BY32 
TrEMBL A2A2N2 Q5NT82
UniProt Splice Variant
Entrez Gene 3704 
UniGene
RefSeq NM_001267623  NM_033453  NM_181493 
HUGO 6176 
OMIM 147520
CCDS CCDS13051  CCDS46576 
HPRD 08856
IMGT
EMBL AB062127 AB196785 AF026816 AF063607 AF219116 AL109976 AL121891 BC010138 CH471133 EF199841 EF213026
GenPept AAB82608  AAG43165  AAH10138  AAK21848  ABO70316  ABP01354  BAB93459  BAD81025  CAC16798  CAI19399  CAM27676  CAM28311  EAX10541 
ImmGen ITPA (murine) 
RNA Seq Atlas 3704