ITPA
entrez
3704
canonical
uniprot
Q9BY32
canonical
ensembl
ENSG00000125877
resolver
ensp
ENSP00000369456
resolver
ensp
ENSP00000382732
resolver
ensp
ENSP00000413282
resolver
ensp
ENSP00000650921
resolver
ensp
ENSP00000650922
resolver
ensp
ENSP00000733832
resolver
genesymbol
ITPA
resolver
genesymbol_syn
C20orf37
resolver
hgnc
HGNC:6176
resolver
uniprot
A0A0S2Z3W7
resolver
uniprot
A0A0S2Z423
resolver
uniprot
A2A2N2
resolver
uniprot
A4UIM5
resolver
uniprot
B2BCH7
resolver
uniprot
O14878
resolver
uniprot
Q5JWH4
resolver
uniprot
Q8WWI0
resolver
uniprot
Q9BYN1
resolver
uniprot
Q9BYX0
resolver
uniprot
Q9H3H8
resolver
uniprot_entry
A0A0S2Z3W7_HUMAN
resolver
uniprot_entry
A0A0S2Z423_HUMAN
resolver
uniprot_entry
ITPA_HUMAN
resolver
uniprot_entry
Q8WWI0_HUMAN
resolver
uniprot_sec
A2A2N2
resolver
uniprot_sec
A4UIM5
resolver
uniprot_sec
B2BCH7
resolver
uniprot_sec
O14878
resolver
uniprot_sec
Q5JWH4
resolver
uniprot_sec
Q9BYN1
resolver
uniprot_sec
Q9BYX0
resolver
uniprot_sec
Q9H3H8
resolver
amino_acid_sequence
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA
uniprot
proteins
disease_involvement
DISEASE: Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:613850]: A common inherited condition characterized by the abnormal accumulation of inosine triphosphate in erythrocytes. It might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs. {ECO:0000269|PubMed:12384777, ECO:0000269|PubMed:12436200, ECO:0000269|Ref.2}. Note=The disease is caused by variants affecting the gene represented in this entry. Three different human populations have been reported with respect to their ITPase activity: high, mean (25% of high) and low activity. The variant Thr-32 is associated with complete loss of enzyme activity, may be by altering the local secondary structure of the protein. Heterozygotes for this polymorphism have 22.5% of the control activity: this is consistent with a dimeric structure of the enzyme.; DISEASE: Developmental and epileptic encephalopathy 35 (DEE35) [MIM:616647]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE35 is characterized by onset of seizures in the first months of life associated with essentially no normal development. Many patients die in early childhood. {ECO:0000269|PubMed:26224535}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.1.66
uniprot
proteins
function
FUNCTION: Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triphosphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions. {ECO:0000255|HAMAP-Rule:MF_03148, ECO:0000269|PubMed:11278832, ECO:0000269|PubMed:17090528}.
uniprot
proteins
mass_dalton
21446
uniprot
proteins
protein_family
HAM1 NTPase family
uniprot
proteins
pubmed
11278832
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12384777
uniprot
proteins
pubmed
12436200
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17077483
uniprot
proteins
pubmed
17090528
uniprot
proteins
pubmed
17138556
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
26224535
uniprot
proteins
sequence_length
194
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03148, ECO:0000269|PubMed:11278832}.
uniprot
proteins