• Gene id: 5837

Gene Summary

• Gene Symbol: PYGM   Gene   UCSC   Ensembl
• Aliases: GSD5
• Gene name: glycogen phosphorylase, muscle associated
• Alternate names: glycogen phosphorylase, muscle form, myophosphorylase, phosphorylase, glycogen, muscle,
• Gene location: 11q13.1 (64760714: 64746388)     Exons: 20     NC_000011.10
• Gene summary(Entrez): This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage dise
• OMIM: 618536

Protein Summary

• Protein general information: P11217  
  • Name: Glycogen phosphorylase, muscle form (EC 2.4.1.1) (Myophosphorylase)
  • Length: 842  
  • Mass: 97092
• Sequence:

  MSRPLSDQEKRKQISVRGLAGVENVTELKKNFNRHLHFTLVKDRNVATPRDYYFALAHTVRDHLVGRWIRTQQHY
  YEKDPKRIYYLSLEFYMGRTLQNTMVNLALENACDEATYQLGLDMEELEEIEEDAGLGNGGLGRLAACFLDSMAT
  LGLAAYGYGIRYEFGIFNQKISGGWQMEEADDWLRYGNPWEKARPEFTLPVHFYGHVEHTSQGAKWVDTQVVLAM
  PYDTPVPGYRNNVVNTMRLWSAKAPNDFNLKDFNVGGYIQAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFV
  VAATLQDIIRRFKSSKFGCRDPVRTNFDAFPDKVAIQLNDTHPSLAIPELMRILVDLERMDWDKAWDVTVRTCAY
  TNHTVLPEALERWPVHLLETLLPRHLQIIYEINQRFLNRVAAAFPGDVDRLRRMSLVEEGAVKRINMAHLCIAGS
  HAVNGVARIHSEILKKTIFKDFYELEPHKFQNKTNGITPRRWLVLCNPGLAEVIAERIGEDFISDLDQLRKLLSF
  VDDEAFIRDVAKVKQENKLKFAAYLEREYKVHINPNSLFDIQVKRIHEYKRQLLNCLHVITLYNRIKREPNKFFV
  PRTVMIGGKAAPGYHMAKMIIRLVTAIGDVVNHDPAVGDRLRVIFLENYRVSLAEKVIPAADLSEQISTAGTEAS
  GTGNMKFMLNGALTIGTMDGANVEMAEEAGEENFFIFGMRVEDVDKLDQRGYNAQEYYDRIPELRQVIEQLSSGF
  FSPKQPDLFKDIVNMLMHHDRFKVFADYEDYIKCQEKVSALYKNPREWTRMVIRNIATSGKFSSDRTIAQYAREI
  WGVEPSRQRLPAPDEAI

• Structural information:
  • Interpro: IPR011833  IPR000811  IPR035090  
  • Prosite: PS00102
  • PDB: 1Z8D
  • PDBsum: 1Z8D
  • STRING: ENSP00000164139
• Other Databases: GeneCards:  PYGM  Malacards:  PYGM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008184	glycogen phosphorylase activity	IBA	molecular function
GO:0030170	pyridoxal phosphate binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005980	glycogen catabolic process	IBA	biological process
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:0008152	metabolic process	IEA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005977	glycogen metabolic process	IEA	biological process
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:0008184	glycogen phosphorylase activity	TAS	molecular function
GO:0005977	glycogen metabolic process	TAS	biological process
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:0005980	glycogen catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008184	glycogen phosphorylase activity	IEA	molecular function
GO:0005980	glycogen catabolic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	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
Muscle glycogen storage disease	KEGG:H01762
Glycogen storage disease type V	KEGG:H01943
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Glycogen storage disease type V	KEGG:H01943
Glycogen storage disease	PMID:9633816
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq