• Gene id: 5836

Gene Summary

• Gene Symbol: PYGL   Gene   UCSC   Ensembl
• Aliases: GSD6
• Gene name: glycogen phosphorylase L
• Alternate names: glycogen phosphorylase, liver form, phosphorylase, glycogen, liver,
• Gene location: 14q22.1 (50944482: 50905216)     Exons: 20     NC_000014.9
• Gene summary(Entrez): This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation o
• OMIM: 603258

Protein Summary

• Protein general information: P06737  
  • Name: Glycogen phosphorylase, liver form (EC 2.4.1.1)
  • Length: 847  
  • Mass: 97149
• Sequence:

  MAKPLTDQEKRRQISIRGIVGVENVAELKKSFNRHLHFTLVKDRNVATTRDYYFALAHTVRDHLVGRWIRTQQHY
  YDKCPKRVYYLSLEFYMGRTLQNTMINLGLQNACDEAIYQLGLDIEELEEIEEDAGLGNGGLGRLAACFLDSMAT
  LGLAAYGYGIRYEYGIFNQKIRDGWQVEEADDWLRYGNPWEKSRPEFMLPVHFYGKVEHTNTGTKWIDTQVVLAL
  PYDTPVPGYMNNTVNTMRLWSARAPNDFNLRDFNVGDYIQAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFV
  VAATLQDIIRRFKASKFGSTRGAGTVFDAFPDQVAIQLNDTHPALAIPELMRIFVDIEKLPWSKAWELTQKTFAY
  TNHTVLPEALERWPVDLVEKLLPRHLEIIYEINQKHLDRIVALFPKDVDRLRRMSLIEEEGSKRINMAHLCIVGS
  HAVNGVAKIHSDIVKTKVFKDFSELEPDKFQNKTNGITPRRWLLLCNPGLAELIAEKIGEDYVKDLSQLTKLHSF
  LGDDVFLRELAKVKQENKLKFSQFLETEYKVKINPSSMFDVQVKRIHEYKRQLLNCLHVITMYNRIKKDPKKLFV
  PRTVIIGGKAAPGYHMAKMIIKLITSVADVVNNDPMVGSKLKVIFLENYRVSLAEKVIPATDLSEQISTAGTEAS
  GTGNMKFMLNGALTIGTMDGANVEMAEEAGEENLFIFGMRIDDVAALDKKGYEAKEYYEALPELKLVIDQIDNGF
  FSPKQPDLFKDIINMLFYHDRFKVFADYEAYVKCQDKVSQLYMNPKAWNTMVLKNIAASGKFSSDRTIKEYAQNI
  WNVEPSDLKISLSNESNKVNGN

• Structural information:
  • Interpro: IPR011833  IPR000811  IPR035090  
  • Prosite: PS00102
  • PDB: 1EM6 1EXV 1FA9 1FC0 1L5Q 1L5R 1L5S 1L7X 1XOI 2ATI 2QLL 2ZB2 3CEH 3CEJ 3CEM 3DD1 3DDS 3DDW
  • PDBsum: 1EM6 1EXV 1FA9 1FC0 1L5Q 1L5R 1L5S 1L7X 1XOI 2ATI 2QLL 2ZB2 3CEH 3CEJ 3CEM 3DD1 3DDS 3DDW
  • STRING: ENSP00000216392
• Other Databases: GeneCards:  PYGL  Malacards:  PYGL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032052	bile acid binding	IDA	molecular function
GO:0016208	AMP binding	IDA	molecular function
GO:0016208	AMP binding	IDA	molecular function
GO:0008144	drug binding	IDA	molecular function
GO:0008144	drug binding	IDA	molecular function
GO:0002060	purine nucleobase binding	IDA	molecular function
GO:0019842	vitamin binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0008184	glycogen phosphorylase activity	IMP	molecular function
GO:0008184	glycogen phosphorylase activity	IMP	molecular function
GO:0005977	glycogen metabolic process	IMP	biological process
GO:0005536	glucose binding	NAS	molecular function
GO:0042593	glucose homeostasis	IMP	biological process
GO:0008184	glycogen phosphorylase activity	IMP	molecular function
GO:0005977	glycogen metabolic process	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0008184	glycogen phosphorylase activity	IEA	molecular function
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0004645	1,4-alpha-oligoglucan phosphorylase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0102499	SHG alpha-glucan phosphorylase activity	IEA	molecular function
GO:0102250	linear malto-oligosaccharide phosphorylase activity	IEA	molecular function
GO:0004645	1,4-alpha-oligoglucan phosphorylase activity	IEA	molecular function
GO:0008184	glycogen phosphorylase activity	IDA	molecular function
GO:0005980	glycogen catabolic process	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0008144	drug binding	IEA	molecular function
GO:0005980	glycogen catabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0070266	necroptotic process	IEA	biological process
GO:0009617	response to bacterium	IEA	biological process
GO:0008184	glycogen phosphorylase activity	IEA	molecular function
GO:0006015	5-phosphoribose 1-diphosphate biosynthetic process	IEA	biological process
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0030170	pyridoxal phosphate binding	IBA	molecular function
GO:0008184	glycogen phosphorylase activity	IBA	molecular function
GO:0005980	glycogen catabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04217	Necroptosis
hsa04910	Insulin signaling pathway
hsa04922	Glucagon signaling pathway
hsa04931	Insulin resistance
hsa00500	Starch and sucrose metabolism

Diseases

Associated diseases	References
Glycogen storage disease	KEGG:H00069
Hepatic glycogen storage disease	KEGG:H01760
Glycogen storage disease type VI	KEGG:H01944
Glycogen storage disease	KEGG:H00069
Hepatic glycogen storage disease	KEGG:H01760
Glycogen storage disease type VI	KEGG:H01944
Glycogen storage disease	PMID:9536091
Glycogen storage disease	PMID:17705025
Glycogen storage disease	PMID:21646031
Lactic acidosis	PMID:17705025
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881