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 Catalytic Subunit Gamma 1) is a Protein Coding gene. Diseases associated with PHKG1 include Glycogen Storage Disease, Type Ixd and Phosphorylase Kinase Deficiency. Among its related pathways are ADP signalling through P2Y purinoceptor 12 and DAG and IP3 signaling. Gene Ontology (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).