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MGP002274

UniProt Annotations

Entry Information
Gene Namephosphorylase kinase, beta
Protein EntryKPBB_HUMAN
UniProt IDQ93100
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q93100-1; Sequence=Displayed; Name=2; IsoId=Q93100-2; Sequence=VSP_012445; Note=Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Contains a phosphoserine at position 4.; Name=3; IsoId=Q93100-3; Sequence=VSP_012446; Name=4; IsoId=Q93100-4; Sequence=VSP_012445, VSP_012446; Note=Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Contains a phosphoserine at position 4.;
DiseaseGlycogen storage disease 9B (GSD9B) [MIM:261750]: A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity. {ECO:0000269|PubMed:9402963}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationBy phosphorylation of various serine residues. {ECO:0000250}.
FunctionPhosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.
InteractionQ96RG2:PASK; NbExp=2; IntAct=EBI-740559, EBI-1042651;
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}.
PtmSer-701 is probably phosphorylated by PKA. {ECO:0000269|PubMed:18669648}.
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.
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