Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5260
Gene name	Phosphorylase kinase catalytic subunit gamma 1
Gene symbol	PHKG1
Synonyms (NCBI Gene)	PHKG
Chromosome	7
Chromosome location	7p11.2
Summary	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

Show/Hide all (20)

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
MIRT643294	hsa-miR-623	HITS-CLIP	23824327
MIRT643293	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT643292	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT643291	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT643290	hsa-miR-5006-3p	HITS-CLIP	23824327
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
MIRT643294	hsa-miR-623	HITS-CLIP	23824327
MIRT643293	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT643292	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT643291	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT643290	hsa-miR-5006-3p	HITS-CLIP	23824327

Show/Hide all (19)

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
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005964	Component	Phosphorylase kinase complex	IBA
GO:0005964	Component	Phosphorylase kinase complex	IEA
GO:0005975	Process	Carbohydrate metabolic process	NAS	2297530
GO:0005977	Process	Glycogen metabolic process	IBA
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
172470	8930	ENSG00000164776

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

MTRDEALPDSHSAQDFYENYEPKEILGRGVSSVVRRCIHKPTSQEYAVKVIDVTGGGSFS
PEEVRELREATLKEVDILRKVSGHPNIIQLKDTYETNTFFFLVFDLMKRGELFDYLTEKV
TLSEKETRKIMRALLEVICTLHKLNIVHRDLKPENILLDDNMNIKLTDFGFSCQLEPGER
LREVCGTPSYLAPEIIECSMNEDHPGYGKEVDMWSTGVIMYTLLAGSPPFWHRKQMLMLR
MIMSGNYQFGSPEWDDYSDTVKDLVSRFLVVQPQNRYTAEEALAHPFFQQYLVEEVRHFS
PRGKFKVIALTVLASVRIYYQYRRVKPVTREIVIRDPYALRPLRRLIDAYAFRIYGHWVK
KGQQQNRAALFENTPKAVLLSLAEEDY

Sequence length

387

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway		Glycogen breakdown (glycogenolysis)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHORYLASE KINASE DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	30659246	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen storage disease due to muscle phosphorylase kinase deficiency	Glycogen Storage Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease, Type IXD	Glycogen Storage Disease	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40148931	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PHKG1 (phosphorylase kinase catalytic subunit gamma 1)