Aliases for PHKG1 Gene
External Ids for PHKG1 Gene
Previous HGNC Symbols for PHKG1 Gene
Previous GeneCards Identifiers for PHKG1 Gene
This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
GeneCards Summary for PHKG1 Gene
PHKG1 (Phosphorylase Kinase, Gamma 1 (Muscle)) is a Protein Coding gene. Diseases associated with PHKG1 include glycogen storage disease due to muscle phosphorylase kinase deficiency and muscle glycogenosis. Among its related pathways are Activation of cAMP-Dependent PKA and Metabolism. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is PHKG2.
UniProtKB/Swiss-Prot for PHKG1 Gene
Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. In vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity).