ITPA
Sign in to saveAlso known as C20orf37, HLC14-06-P, dJ794I6.3, My049, ITPase, NTPase, inosine triphosphatase, DEE35
Inosine triphosphate pyrophosphatase is an enzyme that in humans is encoded by the ITPA gene, by the rdgB gene in bacteria E.coli and the HAM1 gene in yeast S. cerevisiae; the protein is also encoded by some RNA viruses of the Potyviridae family. Two transcript variants encoding two different isoforms have been found for this gene. Also, at least two other transcript variants have been identified which are probably regulatory rather than protein-coding.
Gene data
ITPA- Name
- inosine triphosphatase
- Type
- protein-coding
- Position
- 3,208,868–3,223,870 (+)
- Aliases
- C20orf37, DEE35, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3
- Ensembl
- ENSG00000125877
- RefSeq RNA
- NM_001267623.2, NM_001324236.2, NM_001324237.2, NM_001324238.2, NM_001324240.2
- RefSeq protein
- NP_001254552.1, NP_001311165.1, NP_001311166.1, NP_001311167.1, NP_001311169.1
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 Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
inosine triphosphatase
- Symbol
- ITPA
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 20:3,208,868-3,227,446
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein ITPA PDB 2car.png
Show 5 more facts
- HomoloGene ID
- 6289
- exact match
- identifiers.org/ncbigene/3704
- genomic end
- 3204516
- genomic start
- 3189514
- cytogenetic location
- 20p13
Sources (7)
via Wikidata · CC0
~2 min read
Article
4 sectionsContents
- Function
- Clinical significance
- Reading
- References
Inosine triphosphate pyrophosphatase is an enzyme that in humans is encoded by the ITPA gene, by the rdgB gene in bacteria E.coli and the HAM1 gene in yeast S. cerevisiae; the protein is also encoded by some RNA viruses of the Potyviridae family. Two transcript variants encoding two different isoforms have been found for this gene. Also, at least two other transcript variants have been identified which are probably regulatory rather than protein-coding.
== Function ==