Homo sapiens Gene: GYS1
Summary
InnateDB Gene IDBG-61643.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GYS1
Gene Name glycogen synthase 1 (muscle)
Synonyms GSY; GYS;
Species Homo sapiens
Ensembl Gene ENSG00000104812
Encoded Proteins
glycogen synthase 1 (muscle)
glycogen synthase 1 (muscle)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:48968125-48993310
Strand Reverse strand
Band q13.33
Transcripts
ENST00000323798 ENSP00000317904
ENST00000263276 ENSP00000263276
ENST00000457974
ENST00000472004
ENST00000496048
ENST00000484289
ENST00000594220 ENSP00000470072
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 24 [view]
Protein-Protein 22 [view]
Protein-DNA 2 [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:0004373 glycogen (starch) synthase activity
GO:0005515 protein binding
GO:0005536 glucose binding
GO:0019901 protein kinase binding
GO:0061547 glycogen synthase activity, transferring glucose-1-phosphate
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0005977 glycogen metabolic process
GO:0005978 glycogen biosynthetic process
GO:0006006 glucose metabolic process
GO:0007507 heart development
GO:0009058 biosynthetic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0016234 inclusion body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
KitReceptor pathway
REACTOME
Myoclonic epilepsy of Lafora pathway
Glycogen synthesis pathway
Metabolism of carbohydrates pathway
Metabolism pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
KEGG
Starch and sucrose metabolism pathway
Insulin signaling pathway pathway
INOH
Insulin receptor signaling pathway
PID BIOCARTA
PID NCI
Insulin-mediated glucose transport
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.386225 Hs.708812
RefSeq NM_001161587 NM_002103
HUGO
OMIM
CCDS CCDS12747 CCDS54292
HPRD 00721
IMGT
EMBL
GenPept
RNA Seq Atlas