Version 5.4
Homo sapiens Gene: PYGM
Summary
InnateDB Gene IDBG-54713.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PYGM
Gene Name phosphorylase, glycogen, muscle
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000068976
Encoded Proteins
IDBP-54717
phosphorylase, glycogen, muscle
IDBP-54719
phosphorylase, glycogen, muscle
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:64746389-64760297
Strand Reverse strand
Band q13.1
Transcripts
ENST00000377432 ENSP00000366650
ENST00000164139 ENSP00000164139
ENST00000483742
ENST00000462303
ENST00000460413
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 11 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0004645 phosphorylase activity
GO:0008184 glycogen phosphorylase activity
GO:0030170 pyridoxal phosphate binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0005977 glycogen metabolic process
GO:0005980 glycogen catabolic process
GO:0006006 glucose metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000032648
View Gene Order
ENSBTAG00000001032
Not yet available
Pathways
NETPATH
REACTOME
REACT_1008
Glycogen breakdown (glycogenolysis) pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_111217
Metabolism pathway
REACT_116125
Disease pathway
REACT_723
Glucose metabolism pathway
REACT_200833
Glycogen storage diseases pathway
KEGG
hsa04910
Insulin signaling pathway pathway
hsa00500
Starch and sucrose metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.154084
RefSeq NM_001164716 NM_005609
HUGO
OMIM
CCDS CCDS53659 CCDS8079
HPRD 01986
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca