Human Gene PHKA1 (ENST00000339490.7) from GENCODE V44
Description: Homo sapiens phosphorylase kinase regulatory subunit alpha 1 (PHKA1), transcript variant 2, mRNA. (from RefSeq NM_001122670) RefSeq Summary (NM_001122670): Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]. Gencode Transcript: ENST00000339490.7 Gencode Gene: ENSG00000067177.15 Transcript (Including UTRs) Position: hg38 chrX:72,578,815-72,714,181 Size: 135,367 Total Exon Count: 31 Strand: - Coding Region Position: hg38 chrX:72,581,002-72,713,880 Size: 132,879 Coding Exon Count: 31
ID:KPB1_HUMAN DESCRIPTION: RecName: Full=Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform; Short=Phosphorylase kinase alpha M 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. Allosteric regulation 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: Muscle specific. Isoform 1 is predominant in vastus lateralis muscle. Isoform 2 predominates slightly in heart, and it predominates clearly in the other tissues tested. 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 PHKA1 are the cause of glycogen storage disease type 9D (GSD9D) [MIM:300559]; also known as X-linked muscle glycogenosis. GSD9D is 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. 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/PHKA1";
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.
Pfam Domains: PF00723 - Glycosyl hydrolases family 15
ModBase Predicted Comparative 3D Structure on P46020
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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:0006468 protein phosphorylation