EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
2.4.2.8 | 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 |
EC Number | KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|---|
2.4.2.8 | 0.023 | - |
hypoxanthine | natural mutant I137T | Homo sapiens | |
2.4.2.8 | 0.5 | - |
5-phospho-alpha-D-ribose 1-diphosphate | natural mutant I137T | Homo sapiens |
EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
2.4.2.8 | guanine + 5-phospho-alpha-D-ribose 1-diphosphate | Homo sapiens | salvage synthesis | GMP + diphosphate | - |
r | |
2.4.2.8 | hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate | Homo sapiens | salvage synthesis | IMP + diphosphate | - |
r |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
2.4.2.8 | Homo sapiens | - |
- |
- |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
2.4.2.8 | fibroblast | - |
Homo sapiens | - |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
2.4.2.8 | guanine + 5-phospho-alpha-D-ribose 1-diphosphate | - |
Homo sapiens | GMP + diphosphate | - |
r | |
2.4.2.8 | guanine + 5-phospho-alpha-D-ribose 1-diphosphate | salvage synthesis | Homo sapiens | GMP + diphosphate | - |
r | |
2.4.2.8 | hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate | - |
Homo sapiens | IMP + diphosphate | - |
r | |
2.4.2.8 | hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate | salvage synthesis | Homo sapiens | IMP + diphosphate | - |
r |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
2.4.2.8 | HPRTJerusalem | - |
Homo sapiens |
2.4.2.8 | hypoxanthine-guanine phosphoribosyltransferase | - |
Homo sapiens |