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MGP002272

UniProt Annotations

Entry Information
Gene Namephosphorylase kinase, alpha 1 (muscle)
Protein EntryKPB1_HUMAN
UniProt IDP46020
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=AC; IsoId=P46020-1; Sequence=Displayed; Name=2; Synonyms=C; IsoId=P46020-2; Sequence=VSP_004697; Name=3; IsoId=P46020-3; Sequence=VSP_042517, VSP_042518;
DiseaseGlycogen storage disease 9D (GSD9D) [MIM:300559]: A metabolic disorder characterized by slowly progressive, predominantly distal muscle weakness and atrophy. Clinical features include exercise intolerance with early fatigability, pain, cramps and occasionally myoglobinuria. {ECO:0000269|PubMed:12825073}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationBy phosphorylation of various serine residues. Allosteric regulation by calcium.
FunctionPhosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.
PathwayGlycan biosynthesis; glycogen metabolism.
PtmAlthough the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated. {ECO:0000250}.
SimilarityBelongs to the phosphorylase b kinase regulatory chain family. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}.
SubunitHexadecamer of 4 heterotetramers, each composed of alpha, beta, gamma, and delta subunits. Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.
Tissue SpecificityMuscle specific. Isoform 1 is predominant in vastus lateralis muscle. Isoform 2 predominates slightly in heart, and it predominates clearly in the other tissues tested.
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