Recombinant Human ITPase Protein (C-6His)

Name: Recombinant Human ITPase Protein (C-6His)
Brand: Beta LifeScience
SKU: BL-1472NP
Availability: InStock

BL-1472NP: Greater than 95% as determined by reducing SDS-PAGE. (QC verified)

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Product Overview

Description	Recombinant Human Inosine Triphosphate Pyrophosphatase is produced by our E.coli expression system and the target gene encoding Ala2-Ala194 is expressed with a 6His tag at the C-terminus.
Accession	Q9BY32
Synonym	Inosine Triphosphate Pyrophosphatase; ITPase; Inosine Triphosphatase; Non-Canonical Purine NTP Pyrophosphatase; Non-Standard Purine NTP Pyrophosphatase; Nucleoside-Triphosphate Diphosphatase; Nucleoside-Triphosphate Pyrophosphatase; NTPase; Putative Oncogene Protein hlc14-06-p; ITPA; C20orf37
Gene Background	Inosine Triphosphate Pyrophosphatase (ITPase) is a cytoplasmic enzyme that belongs to the HAM1 NTPase family. ITPase hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP) and deoxyinosine triphosphate (dITP) to the monophosphate nucleotide (IMP) and diphosphate. The ITPase enzyme acts as a homodimer and does not distinguish between the deoxy- and ribose forms. ITPase probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions. Defects in ITPase is thought to be inherited and is characterized by an over-accumulation of ITP in erythocytes, leukocytes and fibroblasts.
Molecular Mass	22.5 KDa
Apmol Mass	21 KDa, reducing conditions
Formulation	Supplied as a 0.2 μm filtered solution of 20mM Tris-HCl, 5% Trehalose, 300mM NaCl, 30% Glycerol, 0.05% Tween 80, pH8.0.
Endotoxin	Less than 0.1 ng/µg (1 EU/µg) as determined by LAL test.
Purity	Greater than 95% as determined by reducing SDS-PAGE. (QC verified)
Biological Activity	Not tested
Reconstitution
Storage	Store at ≤-70°C, stable for 6 months after receipt. Store at ≤-70°C, stable for 3 months under sterile conditions after opening. Please minimize freeze-thaw cycles.
Shipping	The product is shipped on dry ice/polar packs. Upon receipt, store it immediately at the temperature listed below.
Usage	For Research Use Only

Target Details

Target Function	Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (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.
Subcellular Location	Cytoplasm.
Protein Families	HAM1 NTPase family
Database References	HGNC: 6176 OMIM: 147520 KEGG: hsa:3704 STRING: 9606.ENSP00000369456 UniGene: Hs.415299
Associated Diseases	Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD); Epileptic encephalopathy, early infantile, 35 (EIEE35)
Tissue Specificity	Ubiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal gland.

Gene Functions References

Inosine triphosphate pyrophosphatase dephosphorylates ribavirin triphosphate, and reduced enzymatic activity potentiates mutagenesis in hepatitis C virus. PMID: 30045981
This study suggests that the polymorphisms in the ITPA gene influence the severity of anaemia during the first month of a DAA/RBV-based treatment in HCV-related cirrhosis. PMID: 28165327
baseline testing of this single ITPA SNP might help to identify the subset of patients with the greatest risk for experiencing RBV-induced anaemia, which may be particularly helpful in those with underlying cardiovascular disease. In such patients, RBV-sparing regimens should be preferred. PMID: 28198349
The authors analysed ITPA-deficient human and mouse cells, and revealed that ITPA deficiency induces MLH1/PMS2- and p53-dependent growth arrest and DNA instability in mammalian cells. PMID: 27618981
ITPA variant rs1127354C>A significantly predict RBV-induced anaemia during the first 3 months of treatment and it is recommended to be assessed before RBV administration PMID: 28543275
The ITPA gene polymorphism rs1127354 heterozygous genotype (CA) may influence Hemoglobin levels and protect against hemolytic anemia during ribavirin containing regimens for hepatitis C PMID: 28480960
Four gene signature (PTEN, PIK3C2A, ITPA and BCL3) is an independent prognostic factors of both overall survival and disease-free survival in clear-cell renal-cell carcinoma. PMID: 27779101
Inosine triphosphatase polymorphism appeared to correlate with anemia in- cidence and RBV dose reduction during SOF/RBV therapy. PMID: 28109022
Inosine triphosphatase (IPTA) rs1127354 variants but not rs7270101 were found in Chinese patients infected with chronic hepatitis C. IPTA rs1127354 variants and related ITPase were not only related with ribavirin-induced hemolytic anemia but also directly affected the virological response to pegylated interferon plus ribavirin combination therapy in Chinese chronic hepatitis C virus-infected patients. PMID: 28723780
This study concluded that HIV-infection seems to be interfering with the nucleotide metabolism in leukocytes, including CD4 lymphocytes, by decreasing ITPase expression, independently of ITPA genotype. PMID: 27792682
A high prevalence of the ITPA polymorphisms associated with ribavirin-induced hemolytic anemia was found in Mexican Native Amerindians. PMID: 28233743
ITPA gene is associated with protection of anemia in patients with chronic hepatitis during antiviral therapy. PMID: 26110293
We concluded that ITPase activity plays an important function and that ATP concentration changes due to therapy are related to the Hb decreasing mechanism in the early period of therapy with HCV treatment PMID: 27040635
The aim of the study was to investigate frequencies of TPMT and ITPA polymorphisms in Lithuanian inflammatory bowel disease patients and analyze their association with azathioprine-related adverse events. PMID: 26674571
ITPA polymorphism was associated with RBV-induced anemia and thrombocytopenia in Egyptian patients with hepatitis C virus genotype 4 infection. PMID: 26880169
Hyperbilirubinemia develops at early time points after simeprevir administration in most cases and is dependent on the ITPA genotype. PMID: 26223482
Genetic variants in inosine triphosphatase (ITPA) gene have been linked to the haemolytic anaemia induced by peg-interferon and ribavirin treatment. PMID: 26104535
polymorphisms increase the likelihood of developing hemolytic anemia for HCV-infected patients on RBV-based therapy, particularly rs1127354 CC and rs7270101 AA genotypes [meta-analysis] PMID: 26438033
The association of IL28B and APOH single nucleotide polymorphisms (SNPs) with sustained virological response and of ITPA SNPs with anemia related phenotypes. PMID: 26670100
The identification of ITPA protective and SLC29A1 risk genotypes still appears to be a current methodology in Ribavirin dosing during hepatitis C virus therapy with direct acting antiviral agents PMID: 26279293
ITPA SNPs in Brazilian patients receiving antiviral therapy for chronic hepatitis had a great propensity for developing ribavirin-induced anaemia. PMID: 26154744
genotyping of ATIC rs2372536 and ITPA rs1127354 variants or measuring ITPA activity could be useful to predict methotrexate response in children with juvenile idiopathic arthritis. PMID: 25240429
Recessive ITPA mutations were associated with early infantile encephalopathy. PMID: 26224535
results showed that patients with aberrant ITPase genotype (mutant homozygous or heterozygous), more likely to be myelosuppressed and show liver toxicity after treatment with 6-Mercaptopurine PMID: 26242828
The ITPA SNP rs1127354 is a useful predictor of ribavirin-induced anemia in Taiwanese patients and may be related to more severe decreases in platelet counts during the early stage of HCV combination therapy. PMID: 25287171
Results indicate a strong, significant, and independent role of VDR in the early development of ribavirin-induced anemia and confirm the ITPA function in the prediction of anemia at week 4. PMID: 25713999
ITPA polymorphisms are associated with an improved likelihood of achieving sustained virological response resulting from the reduced risk of relapse following IFN and ribavirin combination therapy for HCV infection PMID: 25340831
ITPA genotype may serve as a genetic marker for the improvement of risk stratification and therapy individualization for patients with acute lymphoblastic leukemia. PMID: 25303517
The significant association was found between the rs1127354 ITPA gene polymorphism and protection against ribavirin-induced hemolytic anemia in the Ukrainian patients with chronic hepatitis C infection. PMID: 26030972
Results show that in patients with F3-F4 chronic hepatitis C receiving telaprevir based therapy, ITPA genotype does not impact on the management of early anemia. PMID: 24760000
Partial splenic embolism, in conjunction with triple combination therapy, is a useful and safe method to treat genotype 1b chronic hepatitis C patients with hypersplenism-induced thrombocytopenia PMID: 25743001
the risk of mercaptopurine intolerance was decreased in acute lymphoblastic leukemia patients with 138 allele and 561 allele polymorphism in the ITPA gene PMID: 25120852
important role in hepatitis C virus infection[review] PMID: 24659876
For ITPA, the frequency of P32T allele was 3%. We did not observe any homozygous variant for TPMT and ITPA alleles. PMID: 24774509
Irrespective of the protective effect of ITPA mutations, premenopausal females less likely develop ribavirin induced anemia. PMID: 23850877
All ITPA polymorphisms considered were shown to be significantly associated with anemia onset in chronic hepatitis C treated patients. PMID: 23933495
ITPA protects against ribavirin-induced anemia, but is not associated with sustained virological response rate. PMID: 24449403
ITPA variants are associated with reduced risk of hepatitis C relapse. PMID: 24519039
Study supports recent studies which point towards an important role for ITPase in cellular surveillance of rogue nucleotides.in hematologic malignancy. PMID: 23547827
Non-CC at rs1127354 without involvement of rs7270101 is strongly associated with protection from ribavirin-induced anemia, however, inosine triphosphatase genotype is not associated with sustained virologic response. PMID: 23960450
role of conserved residues in substrate specificity PMID: 23770441
association between ribavirin (RBV) serum levels and SLC28A2 rs11854484 genotype, as well as the replicated association of ITPA and SLC28A3 genetic polymorphisms with RBV-induced anemia and treatment response PMID: 23195617
We propose that the dimer of P32T variant subunit with wild-type subunit is degraded in cells similarly to the P32T homodimer explaining the level of loss of ITPA activity in heterozygotes. PMID: 23528839
ITPA polymorphisms influenced the degree of anaemia but not thrombocytopenia during therapy of chronic hepatitis C genotype 6 infection. PMID: 23730840
Rs1127354 ITPA polymorphism plays a decisive role in protecting against treatment-induced anemia and the need for ribavirin dose reduction in Egyptian hepatitis C patients. PMID: 23538996
ITPA SNPs influence ribavirin-induced anemia in chronic hepatitis C. PMID: 23139603
IL-28B polymorphisms and ITPA variants influence outcome of treatment for chronic hepatitis C with Peg-Interferon and ribavirin. PMID: 23301546
an association was found between ITPA SNP genotype and treatment-induced anemia during a 4-week course of ribavirin monotherapy in patients with chronic hepatitis C PMID: 22460221
patients with the ITPA-CC genotype showed a smaller decrease in platelet counts during natural interferon-beta/ribavirin combination therapy. PMID: 22554247
ITPase C94A has been recognized in about 15% of Japanese bur recent studies on its relationship with thiopurine toxicity has not been clarified. PMID: 23126166

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