MGP Database

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MGP002547

UniProt Annotations

Entry Information
Gene Namephosphorylase, glycogen, muscle
Protein EntryPYGM_HUMAN
UniProt IDP11217
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11217-1; Sequence=Displayed; Name=2; IsoId=P11217-2; Sequence=VSP_043047; Note=No experimental confirmation available.;
Catalytic Activity((1->4)-alpha-D-glucosyl)(n) + phosphate = ((1->4)-alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphate.
CofactorName=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
DiseaseGlycogen storage disease 5 (GSD5) [MIM:232600]: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. {ECO:0000269|PubMed:10382911, ECO:0000269|PubMed:10382912, ECO:0000269|PubMed:10417800, ECO:0000269|PubMed:10590419, ECO:0000269|PubMed:10681080, ECO:0000269|PubMed:10714589, ECO:0000269|PubMed:10899452, ECO:0000269|PubMed:11706962, ECO:0000269|PubMed:12031624, ECO:0000269|PubMed:7603523, ECO:0000269|PubMed:8316268, ECO:0000269|PubMed:8535454, ECO:0000269|PubMed:9506549}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationActivity of phosphorylase is controlled both by allosteric means (through the noncovalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B.
FunctionPhosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.
PtmPhosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A. {ECO:0000269|PubMed:1150650}.
SimilarityBelongs to the glycogen phosphorylase family. {ECO:0000305}.
SubunitHomodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A.
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