Entity Details

Primary name KPB1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP46020
EntryNameKPB1_HUMAN
FullNamePhosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
TaxID9606
Evidenceevidence at protein level
Length1223
SequenceStatuscomplete
DateCreated1995-11-01
DateModified2021-06-02

Ontological Relatives

GenesPHKA1

GO terms

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GOName
GO:0004689 phosphorylase kinase activity
GO:0005516 calmodulin binding
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005964 phosphorylase kinase complex
GO:0005977 glycogen metabolic process
GO:0005980 glycogen catabolic process
GO:0006091 generation of precursor metabolites and energy

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR008734 Phosphorylase kinase alpha/beta subunitFamilyFamily
IPR008928 Six-hairpin glycosidase superfamilyFamilyHomologous superfamily
IPR011613 GH15-like domainDomainDomain
IPR012341 Six-hairpin glycosidase-like superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
300559 OMIMGlycogen storage disease 9D (GSD9D)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. The disease is caused by variants affecting the gene represented in this entry.