ID:KPB2_HUMAN DESCRIPTION: RecName: Full=Phosphorylase b kinase regulatory subunit alpha, liver isoform; Short=Phosphorylase kinase alpha L subunit; FUNCTION: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin. ENZYME REGULATION: By phosphorylation of various serine residues and by calcium. PATHWAY: Glycan biosynthesis; glycogen metabolism. SUBUNIT: Hexadecamer 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. SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). TISSUE SPECIFICITY: Predominantly expressed in liver and other non-muscle tissues. PTM: Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated (By similarity). DISEASE: Defects in PHKA2 are the cause of glycogen storage disease type 9A (GSD9A) [MIM:306000]; also known as X-linked liver glycogenosis (XLG). GSD9A is a metabolic disorder resulting in a mild glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest. SIMILARITY: Belongs to the phosphorylase b kinase regulatory chain family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHKA2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P46019
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0005975 carbohydrate metabolic process GO:0005977 glycogen metabolic process GO:0006091 generation of precursor metabolites and energy GO:0006464 cellular protein modification process GO:0006468 protein phosphorylation
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
