GYS1 (glycogen synthase 1)
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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2997 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Glycogen synthase 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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GYS1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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GSY, GYS |
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Chromosome
Chromosome number
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19 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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19q13.33 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 s |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | P13807 | ||||||||||
| Protein name | Glycogen [starch] synthase, muscle (EC 2.4.1.11) (Glycogen synthase 1) | ||||||||||
| Protein function | Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Extends the primer composed of a few glucose units formed by glycogenin by adding new glucose units to it. In this context, | ||||||||||
| PDB | 7Q0B , 7Q0S , 7Q12 , 7Q13 , 7ZBN , 8CVX , 8CVY , 8CVZ | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in skeletal muscle and most other cell types where glycogen is present. {ECO:0000305|PubMed:2493642}. | ||||||||||
| Sequence | |||||||||||
| Sequence length | 737 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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