QuickView for ITPA (gene)

Gene Symbol:

ITPA Homo sapiens

Full name:

inosine triphosphatase

Synonyms:

C20orf37, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3, inosine triphosphate pyrophosphatase, inosine triphosphatase (nucleoside triphosphate pyrophosphatase), inosine triphosphate pyrophosphohydrolase, non-canonical purine NTP pyrophosphatase, non-standard purine NTP pyrophosphatase, nucleoside-triphosphate diphosphatase, putative oncogene protein HLC14-06-P

Genomic Location:

Chr 20: 3138056-3152506

Description:

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 re...

View Full Description

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.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Danio rerio ,  Canis lupus familiaris ,  Bos taurus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGTTTGY_HNF3_Q6 ,  SCGGAAGY_ELK1_02

Cytogenetic Map:

20p13

search → result