Homo sapiens Protein: GYG1
Summary
InnateDB Protein IDBP-60432.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GYG1
Protein Name glycogenin 1
Synonyms GSD15; GYG;
Species Homo sapiens
Ensembl Protein ENSP00000340736
InnateDB Gene IDBG-60430 (GYG1)
Protein Structure
UniProt Annotation
Function Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.
Subcellular Localization
Disease Associations Glycogen storage disease 15 (GSD15) [MIM:613507]: A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. {ECO:0000269PubMed:20357282}. 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 15 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 15 [view]
Protein-Protein 15 [view]
Protein-DNA 0
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:0005515 protein binding
GO:0005536 glucose binding
GO:0008466 glycogenin glucosyltransferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0046872 metal ion binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0005978 glycogen biosynthetic process
GO:0005980 glycogen catabolic process
GO:0006006 glucose metabolic process
GO:0008152 metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005829 cytosol
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR002495 Glycosyl transferase, family 8
IPR029044 Nucleotide-diphospho-sugar transferases
PFAM PF01501
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P46976
PhosphoSite PhosphoSite-P46976
TrEMBL C9J8R8
UniProt Splice Variant
Entrez Gene 2992
UniGene Hs.727448
RefSeq NP_004121
HUGO HGNC:4699
OMIM 603942
CCDS CCDS3139
HPRD 06805
IMGT
EMBL AC021059 AF065476 AF065477 AF065478 AF065479 AF065480 AF065481 AF087942 BC000033 CH471052 CR536547 U31525 U44131 X79537
GenPept AAB00114 AAB09752 AAD31084 AAD52093 AAH00033 CAA56073 CAG38784 EAW78894 EAW78895 EAW78896 EAW78898 EAW78900 EAW78901