Protein Variants | Comment | Organism |
---|---|---|
DELTA189-190 | naturally occurring mutation in XLG II patient, increased activity blood cells | Homo sapiens |
E1125K | naturally occurring mutation in XLG I patient, low activity in blood cells | Homo sapiens |
Q1169X | naturally occurring mutation in XLG I patient, CAG codon is replaced by a TAG stop codon, very low activity in blood cells | Homo sapiens |
R295H | naturally occurring mutation in XLG I and XLG II patients, very low activity in blood cells and liver | Homo sapiens |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Ca2+ | required, interacts with the delta subunit | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | plays a regulatory role in a cascade of enzymatic reactions controlling glycogen breakdown | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P46019 | liver isoform, alpha subunit; patients with XLG I, with a deficiency in phosphorylase kinase activity in peripheral blood cells and liver; and with XLG II, with normal in vitro PHK activity in peripheral blood cells and with variable activity in liver | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
blood | peripheral blood cells | Homo sapiens | - |
liver | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | plays a regulatory role in a cascade of enzymatic reactions controlling glycogen breakdown | Homo sapiens | ? | - |
? |
Subunits | Comment | Organism |
---|---|---|
hexadecamer | 4 * alpha + 4 * beta + 4 * gamma + 4 * delta | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
EC 2.7.1.38 | formerly, transferred to EC 2.7.11.19 | Homo sapiens |
PhK | - |
Homo sapiens |