Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5260
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphorylase kinase catalytic subunit gamma 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PHKG1
Synonyms (NCBI Gene) Gene synonyms aliases
PHKG
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p11.2
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT643299 hsa-miR-4780 HITS-CLIP 23824327
MIRT643298 hsa-miR-6780b-3p HITS-CLIP 23824327
MIRT643297 hsa-miR-1292-5p HITS-CLIP 23824327
MIRT643296 hsa-miR-4471 HITS-CLIP 23824327
MIRT643295 hsa-miR-8059 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0004689 Function Phosphorylase kinase activity IBA
GO:0004689 Function Phosphorylase kinase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
172470 8930 ENSG00000164776
Protein
UniProt ID Q16816
Protein name Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform (PHK-gamma-M) (EC 2.7.11.19) (Phosphorylase kinase subunit gamma-1) (Serine/threonine-protein kinase PHKG1) (EC 2.7.11.1, EC 2.7.11.26)
Protein function 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, TNNI
PDB 8JFK , 8JFL , 8XY7 , 8XYA , 8XYB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 20 288 Protein kinase domain Domain
Sequence
Sequence length 387
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Calcium signaling pathway
Insulin signaling pathway
Glucagon signaling pathway
  Glycogen breakdown (glycogenolysis)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Glycogen Storage Disease Associate 30659246
Osteosarcoma Associate 40148931