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Amino acids 2-218 form the expressed segment for recombinant Human HPRT1. The calculated molecular weight for this HPRT1 protein is 28.4 kDa. This protein is generated in a e.coli-based system. The N-terminal 6xHis tag was fused into the coding gene segment of HPRT1, making it easier to detect and purify the HPRT1 recombinant protein in the later stages of expression and purification.The human hypoxanthine-guanine phosphoribosyltransferase (HPRT1) is an essential enzyme that plays a critical role in the purine salvage pathway, which is responsible for recycling and salvaging purine bases (hypoxanthine and guanine) to synthesize nucleotides. HPRT1 catalyzes the conversion of hypoxanthine and guanine to their respective nucleotides, inosine monophosphate (IMP) and guanosine monophosphate (GMP), utilizing phosphoribosyl pyrophosphate (PRPP) as a substrate. Mutations in the HPRT1 gene can lead to Lesch-Nyhan syndrome, a rare genetic disorder characterized by neurological and behavioral abnormalities, as well as overproduction of uric acid. Research on HPRT1 is crucial for understanding purine metabolism, nucleotide biosynthesis, and the molecular basis of associated genetic disorders.
Amino acids 2-218 form the expressed segment for recombinant Human HPRT1. The calculated molecular weight for this HPRT1 protein is 28.4 kDa. This protein is generated in a e.coli-based system. The N-terminal 6xHis tag was fused into the coding gene segment of HPRT1, making it easier to detect and purify the HPRT1 recombinant protein in the later stages of expression and purification.The human hypoxanthine-guanine phosphoribosyltransferase (HPRT1) is an essential enzyme that plays a critical role in the purine salvage pathway, which is responsible for recycling and salvaging purine bases (hypoxanthine and guanine) to synthesize nucleotides. HPRT1 catalyzes the conversion of hypoxanthine and guanine to their respective nucleotides, inosine monophosphate (IMP) and guanosine monophosphate (GMP), utilizing phosphoribosyl pyrophosphate (PRPP) as a substrate. Mutations in the HPRT1 gene can lead to Lesch-Nyhan syndrome, a rare genetic disorder characterized by neurological and behavioral abnormalities, as well as overproduction of uric acid. Research on HPRT1 is crucial for understanding purine metabolism, nucleotide biosynthesis, and the molecular basis of associated genetic disorders.
| Cat.No | ACP02817 | Target Name | HPRT1 |
|---|---|---|---|
| Form | Liquid or Lyophilized powder | Expression System | E.coli |
| Expression Range | 2-218aa | Mol Weight | 28.4kDa |
| Protein Length | Full Length of Mature Protein | Purity | Greater than 90% as determined by SDS-PAGE. |
| Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | P00492 |
|---|
Uniprot Id
P00492
Target Species
Human
Target Name
HPRT1
Target Full Name
Hypoxanthine-guanine phosphoribosyltransferase
Target Function
Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.
Target Involvement
Lesch-Nyhan syndrome (LNS); Gout HPRT-related (GOUT-HPRT)
Target Subcellular Location
Cytoplasm.
Target Protein Families
Purine/pyrimidine phosphoribosyltransferase family
Target Research Area
Metabolism
Target Synonyms
HGPRT; HGPRTase; HPRT 1; HPRT_HUMAN; HPRT1; Hypoxanthine guanine phosphoribosyltransferase ; Hypoxanthine phosphoribosyltransferase 1 (Lesch Nyhan syndrome); Hypoxanthine phosphoribosyltransferase 1; Hypoxanthine-guanine phosphoribosyltransferase
Target Background
The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.
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