Homo sapiens Protein: PYGL
Summary
InnateDB Protein IDBP-6393.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PYGL
Protein Name phosphorylase, glycogen, liver
Synonyms GSD6;
Species Homo sapiens
Ensembl Protein ENSP00000216392
InnateDB Gene IDBG-6391 (PYGL)
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 6 (GSD6) [MIM:232700]: A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. {ECO:0000269PubMed:9529348}. 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 33 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 33 [view]
Protein-Protein 32 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0002060 purine nucleobase binding
GO:0004645 phosphorylase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005536 glucose binding
GO:0008144 drug binding
GO:0008184 glycogen phosphorylase activity
GO:0016208 AMP binding
GO:0019842 vitamin binding
GO:0030170 pyridoxal phosphate binding
GO:0030246 carbohydrate binding
GO:0032052 bile acid binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0005977 glycogen metabolic process
GO:0005980 glycogen catabolic process
GO:0006006 glucose metabolic process
GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process
GO:0042593 glucose homeostasis
GO:0044281 small molecule metabolic process
GO:0070266 necroptotic process
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
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 P06737
PhosphoSite PhosphoSite-P06737
TrEMBL
UniProt Splice Variant
Entrez Gene 5836
UniGene Hs.282417
RefSeq NP_002854
HUGO HGNC:9725
OMIM 613741
CCDS CCDS32080
HPRD 01987
IMGT
EMBL AF046785 AF046787 AF046788 AF046789 AF046790 AF046791 AF046792 AF046793 AF046794 AF046795 AF046796 AF046797 AF046798 AF066858 AK300580 AL358334 BC009895 BC082229 BC095850 BC110791 CH471078 M14636 M36807 Y15233
GenPept AAA35906 AAA52577 AAC17450 AAC18079 AAC23504 AAH09895 AAH82229 AAH95850 AAI10792 BAG62279 CAA75517 EAW65685