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Literature summary extracted from

  • Burwinkel, B.; Hu, B.; Schroers, A.; Clemens, P.R.; Moses, S.W.; Shin, Y.S.; Pongratz, D.; Vorgerd, M.; Kilimann, M.W.
    Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases (2003), Eur. J. Hum. Genet., 11, 516-526.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.11.19 DNA sequence determination and structural analysis, genetic organization, the subunits of the muscle isozyme are encoded by different genes, subunit alpha is encoded by gene PHKA1, genes PHKA1, PHKB1, PHKG1, CALM1, CALM2, and CALM3 are involved, relation to several pseudogenes Homo sapiens
2.7.11.19 DNA sequence determination and structural analysis, genetic organization, the subunits of the muscle isozyme are encoded by different genes, subunit gamma is encoded by gene PHKG1, genes PHKA1, PHKB1, PHKG1, CALM1, CALM2, and CALM3 are involved, relation to several pseudogenes Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.11.19 D299V naturally occurring mutation in gene PHKB, encoding subunit beta, missense mutation leads to enzyme deficiency in vivo Homo sapiens
2.7.11.19 Q657K naturally occurring heterozygous single amino acid replacement in gene PHKB, might not be significant for enzyme deficiency disease, patient shows low enzyme activity Homo sapiens
2.7.11.19 Y770C naturally occurring heterozygous single amino acid replacement in gene PHKB, might not be significant for enzyme deficiency disease, patient shows low enzyme activity Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.7.11.19 ATP + phosphorylase b Homo sapiens
-
 ADP + phosphorylase a
-
 ?
2.7.11.19 additional information Homo sapiens muscle-specific enzyme deficiency causes glycogen storage disease ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.7.11.19 Homo sapiens P46020 the subunits of the muscle isozyme are encoded by different genes
-
2.7.11.19 Homo sapiens Q16816 gene PHKG1; the subunits of the muscle isozyme are encoded by different genes
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.11.19 blood
-
 Homo sapiens
-
2.7.11.19 muscle muscle isoform Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.11.19 ATP + phosphorylase b
-
 Homo sapiens ADP + phosphorylase a
-
 ?
2.7.11.19 additional information muscle-specific enzyme deficiency causes glycogen storage disease Homo sapiens ?
-
 ?

Subunits

EC Number Subunits Comment Organism
2.7.11.19 oligomer
-
 Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
2.7.11.19 PhK
-
 Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
2.7.11.19 additional information
-
 enzyme assay at pH 6.8 and pH 8.2 Homo sapiens
2.7.11.19 6.8
-
 enzyme assay at pH 6.8 Homo sapiens
2.7.11.19 8.2
-
 enzyme assay at pH 8.2 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
2.7.11.19 ATP
-
 Homo sapiens
2.7.11.19 Calmodulin encoded by 3 different genes CALM1-3 Homo sapiens