Version 5.4
Homo sapiens Protein: PYGM
Summary
InnateDB Protein IDBP-54717.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PYGM
Protein Name phosphorylase, glycogen, muscle
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000366650
InnateDB Gene IDBG-54713 (PYGM)
Protein Structure
UniProt Annotation
Function Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.
Subcellular Localization
Disease Associations Glycogen storage disease 5 (GSD5) [MIM:232600]: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. {ECO:0000269PubMed:10382911, ECO:0000269PubMed:10382912, ECO:0000269PubMed:10417800, ECO:0000269PubMed:10590419, ECO:0000269PubMed:10681080, ECO:0000269PubMed:10714589, ECO:0000269PubMed:10899452, ECO:0000269PubMed:11706962, ECO:0000269PubMed:12031624, ECO:0000269PubMed:7603523, ECO:0000269PubMed:8316268, ECO:0000269PubMed:8535454, ECO:0000269PubMed:9506549}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR000811 Glycosyl transferase, family 35
IPR011833 Glycogen/starch/alpha-glucan phosphorylase
PFAM PF00343
PRINTS
PIRSF PIRSF000460
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P11217
PhosphoSite PhosphoSite-P11217
TrEMBL
UniProt Splice Variant
Entrez Gene 5837
UniGene Hs.154084
RefSeq NP_001158188
HUGO HGNC:9726
OMIM 608455
CCDS CCDS53659
HPRD 01986
IMGT
EMBL AF066859 AK056607 AP001462 BC126392 BC130514 CH471076 M16013 M32579 M32580 M32581 M32582 M32583 M32584 M32585 M32586 M32587 M32588 M32589 M32590 M32591 M32592 M32593 M32594 M32595 M32596 M32597 M32598 U94774 U94775 U94776 U94777 X03031
GenPept AAA36216 AAA60231 AAC17451 AAC52081 AAI26393 AAI30515 BAG51762 CAA26834 EAW74284

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