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Literature summary for 2.7.11.19 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
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Cloned(Commentary)

Cloned (Comment) Organism
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
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

Protein Variants Comment Organism
D299V naturally occurring mutation in gene PHKB, encoding subunit beta, missense mutation leads to enzyme deficiency in vivo Homo sapiens
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
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)

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

Organism

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

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
 Homo sapiens
-
muscle muscle isoform Homo sapiens
-

Substrates and Products (Substrate)

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

Subunits

Subunits Comment Organism
oligomer
-
 Homo sapiens

Synonyms

Synonyms Comment Organism
PhK
-
 Homo sapiens

pH Optimum

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

Cofactor

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