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Literature summary for 2.4.2.8 extracted from
- A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome (2003), Mol. Genet. Metab., 78, 158-161.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| I137T | DNA sequence determination and identification of the naturally occurring point mutation in the conserved 5-phosphoribosyl-1-diphosphate binding motif, causing a variant of Lesch-Nyhan syndrome, the mutation affects the affinity of the enzyme for 5-phosphoribosyl-1-diphosphate through structural alterations | Homo sapiens |
KM Value [mM]
| KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|
| 0.023 | - |
hypoxanthine | natural mutant I137T | Homo sapiens |  |
| 0.5 | - |
5-phospho-alpha-D-ribose 1-diphosphate | natural mutant I137T | Homo sapiens | |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| guanine + 5-phospho-alpha-D-ribose 1-diphosphate | Homo sapiens | salvage synthesis | GMP + diphosphate | - |
r | |
| hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate | Homo sapiens | salvage synthesis | IMP + diphosphate | - |
r | |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| fibroblast | - |
Homo sapiens | - |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| guanine + 5-phospho-alpha-D-ribose 1-diphosphate | - |
Homo sapiens | GMP + diphosphate | - |
r | |
| guanine + 5-phospho-alpha-D-ribose 1-diphosphate | salvage synthesis | Homo sapiens | GMP + diphosphate | - |
r | |
| hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate | - |
Homo sapiens | IMP + diphosphate | - |
r | |
| hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate | salvage synthesis | Homo sapiens | IMP + diphosphate | - |
r | |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| HPRTJerusalem | - |
Homo sapiens |
| hypoxanthine-guanine phosphoribosyltransferase | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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