MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001682

Record overview

MGPD IDMGP001682
Gene ID3704
SpeciesHomo sapiens (Human)
Gene Nameinosine triphosphatase (nucleoside triphosphate pyrophosphatase)
Gene Symbol ITPA
SynonymsMy049; C20orf37; dJ794I6.3; HLC14-06-P;
Alternate namesinosine triphosphate pyrophosphatase; ITPA; ITPase; NTPase; inosine triphosphatase-A; inosine triphosphate pyrophosphohydrolase; non-canonical purine NTP pyrophosphatase; non-standard purine NTP pyrophosphatase; nucleoside-triphosphate diphosphatase; putative oncogene protein HLC14-06-P;
Chromosome20
Map Location20p
EC Number3.6.1.19
SummaryThis 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]
OrthologsView orthologs and multiple alignments for ITPA

Proteins

inosine triphosphate pyrophosphatase isoform a
Refseq ID:NP_258412
Protein GI:15626999
UniProt ID:Q9BY32
mRNA ID:NM_033453
Length:194
RefSeq Status:
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGL
HQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA
 
inosine triphosphate pyrophosphatase isoform b
Refseq ID:NP_852470
Protein GI:31657144
UniProt ID:Q9BY32
mRNA ID:NM_181493
Length:177
RefSeq Status:
MAASLVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCT
FALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA
 
inosine triphosphate pyrophosphatase isoform c
Refseq ID:NP_001254552
Protein GI:390517020
UniProt ID:Q9BY32
mRNA ID:NM_001267623
Length:153
RefSeq Status:
MAASLVGKKIVFVTGNAKKLEEVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSGRIV
APRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA
 
  logo