Enzymes Recombinant Proteins

Human ITPA Recombinant Protein (RPPB1852)

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RPPB1852

Description

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Product Name:Human ITPA Recombinant Protein
Product Code:RPPB1852
Size:20µg
Species:Human
Target:ITPA
Synonyms:EC 3.6.1.19, C20orf37, dJ794I6.3, HLC14-06-P, ITPase, My049, OK/SW-cl.9, Inosine Triphosphatase, ITPA.
Source:Escherichia Coli
Physical Appearance:Sterile filtered colorless solution.
Formulation:The ITPA solution (1mg/ml) contains 20mM Tris-HCl pH-8 & 10% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks.Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 95.0% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MMAASLVGKK IVFVTGNAKK LEEVVQILGD KFPCTLVAQK IDLPEYQGEP DEISIQKCQE AVRQVQGPVL VEDTCLCFNA LGGLPGPYIK WFLEKLKPEG LHQLLAGFED KSAYALCTFA LSTGDPSQPV RLFRGRTSGR IVAPRGCQDF GWDPCFQPDG YEQTYAEMPK AEKNAVSHRF RALLELQEYF GSLAA

ITPA enzyme catalyzes the pyrophosphohydrolysis of both ITP (inosine triphosphate) and dITP (deoxyinosine triphosphate) to IMP (inosine monophosphate) and diphosphate. IMP is exercised as a substrate for purine nucleotide pathways. IMP is phosphorylated to ITP, and ITPA mediates the concentration of ITP in the cell by changing ITP back to IMP. Defects in ITPA result in ITPA deficiency which is thought to be inherited and is characterized by an over-accumulation of ITP in erythocytes, leukocytes and fibroblasts.

ITPA Recombinant Human produced in E.Coli is a single, non-glycosylated polypeptide chain containing 215 amino acids (1-194 a.a.) and having a molecular mass of 23.7 kDa. The ITPA is fused to a 21 amino acid His-Tag at N-terminus and purified by proprietary chromatographic techniques.

UniProt Protein Function:ITPA: 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. Defects in ITPA are the cause of inosine triphosphate pyrophosphohydrolase deficiency (ITPAD). It is a common inherited trait characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes and also leukocytes and fibroblasts. The pathological consequences of ITPA deficiency, if any, are unknown. However, it might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs. 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. Belongs to the HAM1 NTPase family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Xenobiotic Metabolism - drug metabolism - other enzymes; Nucleotide Metabolism - pyrimidine; EC 3.6.1.19; Hydrolase; Nucleotide Metabolism - purine

Chromosomal Location of Human Ortholog: 20p

Cellular Component: cytoplasm; cytosol

Molecular Function:metal ion binding; nucleotide binding

Biological Process: deoxyribonucleoside triphosphate catabolic process; nucleobase, nucleoside and nucleotide metabolic process; ITP catabolic process; chromosome organization and biogenesis

Disease: Inosine Triphosphatase Deficiency

NCBI 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]
UniProt Code:Q9BY32
NCBI GenInfo Identifier:30173120
NCBI Gene ID:3704
NCBI Accession:Q9BY32.2
UniProt Secondary Accession:Q9BY32,O14878, Q5JWH4, Q9BYN1, Q9BYX0, Q9H3H8, A2A2N2 A4UIM5, B2BCH7,
UniProt Related Accession:Q9BY32
Molecular Weight:21,446 Da
NCBI Full Name:Inosine triphosphate pyrophosphatase
NCBI Synonym Full Names:inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
NCBI Official Symbol:ITPA��
NCBI Official Synonym Symbols:My049; C20orf37; dJ794I6.3; HLC14-06-P��
NCBI Protein Information: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
UniProt Protein Name:Inosine triphosphate pyrophosphatase
UniProt Synonym Protein Names:Non-canonical purine NTP pyrophosphatase; Non-standard purine NTP pyrophosphatase; Nucleoside-triphosphate diphosphatase; Nucleoside-triphosphate pyrophosphatase; NTPase; Putative oncogene protein hlc14-06-p
UniProt Gene Name:ITPA��
UniProt Entry Name:ITPA_HUMAN
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Additional Information

Product Type:
Recombinant Protein
Species:
Human
Uniprot:
Q9BY32
Research Area:
Enzymes
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