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ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001267623 Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_033453 Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10
NM_181493 Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $399.00 14

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Gene Symbol ITPA
Entrez Gene ID 3704
Full Name inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
Synonyms C20orf37, HLC14-06-P, ITPase, dJ794I6.3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

20

20p

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].
Disorder

MIM: 147520

[Inosine triphosphatase deficiency] (3)

mRNA Protein Product Sequence Price Select
NM_001267623, 390517019 NP_001254552, 390517020 inosine triphosphate pyrophosphatase isoform c ORF Sequence $150.00
NM_033453, 390517017 NP_258412, 15626999 inosine triphosphate pyrophosphatase isoform a ORF Sequence $159.00
NM_181493, 390517018 NP_852470, 31657144 inosine triphosphate pyrophosphatase isoform b ORF Sequence $250.00
KEGG
hsa00983Drug metabolism - other enzymes
hsa00240Pyrimidine metabolism
hsa00230Purine metabolism
Homo sapiens (human)ITPANP_258412.1
Pan troglodytes (chimpanzee)ITPAXP_001161047.1
Macaca mulatta (Rhesus monkey)ITPAXP_001115179.1
Canis lupus familiaris (dog)ITPAXP_851574.2
Bos taurus (cattle)ITPANP_001069750.1
Mus musculus (house mouse)ItpaNP_080198.2
Rattus norvegicus (Norway rat)ItpaNP_001101244.1
Gallus gallus (chicken)ITPAXP_422234.1
Danio rerio (zebrafish)LOC100537357XP_003200733.1
Danio rerio (zebrafish)si:ch73-18j6.1NP_001093456.1
Drosophila melanogaster (fruit fly)CG8891NP_608890.1
Caenorhabditis eleganshap-1NP_498121.1
Arabidopsis thaliana (thale cress)AT4G13720NP_567410.1
GeneCards ITPA
PDB 2J4E, 2I5D, 2CAR
UniProt Q9BY32
MIM 147520
Ensembl ENSG00000125877
HGNC 6176
HPRD 08856

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
inosine triphosphate pyrophosphatase
Names
inosine triphosphate pyrophosphatase
ITPase
NTPase
inosine triphosphatase-A
putative oncogene protein HLC14-06-P
nucleoside-triphosphate diphosphatase
non-standard purine NTP pyrophosphatase
non-canonical purine NTP pyrophosphatase
inosine triphosphate pyrophosphohydrolase
NP_001254552.1
NP_258412.1
NP_852470.1

Interactant



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