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FLASH GENE
Symbol GYS1 contributors: mct/npt - updated : 06-03-2010
HGNC name glycogen synthase 1 (muscle)
HGNC id 4706
Corresponding disease
GYS1D glycogen synthase 1 deficiency
Location 19q13.33      Physical location : 49.471.382 - 49.496.610
Synonym symbol(s) GSY, GYS, GYSM
EC.number 2.4.1.11
DNA
TYPE functioning gene
STRUCTURE 25.23 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map cen - D19S47 - APOC2 APOC2 - D19S112 - LIG1 LIG1 - D19S301 - GYS1 ,D19S50 - HRC - D19S345 - D19S317 - D19S180 - PRKCG - qter
Authors Vionnet (93),Gordon (95)
Physical map
FGF21 19q13.1-qter fibroblast growth factor 21 BCAT2 19q13.3 branched chain aminotransferase 2, mitochondrial DHRS10 19q13.33 dehydrogenase/reductase (SDR family) member 10 PLEKHA4 19q13.33 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 PPP1R15A 19q13.2 protein phosphatase 1, regulatory (inhibitor) subunit 15A TULP2 19q13.1 tubby like protein 2 NUCB1 19q13.32 nucleobindin 1 DHDH 19q13.3 dihydrodiol dehydrogenase (dimeric) BAX 19q13.3-q13.4 BCL2-associated X protein FTL 19q13.3 ferritin, light polypeptide GYS1 19q13.3 glycogen synthase 1 (muscle) RUVBL2 19q13.3 RuvB-like 2 (E. coli) LHB 19q13.3 luteinizing hormone beta polypeptide CGB 19q13.3 chorionic gonadotropin, beta polypeptide NTF6A 19q13.3 neurotrophin 6, alpha pseudogene NTF6G 19q13.3 neurotrophin 6, gamma pseudogene CGB2 19q13.32 chorionic gonadotropin, beta polypeptide 2 CGB1 19q13.32 chorionic gonadotropin, beta polypeptide 1 NTF6B 19q13.3 neurotrophin 6, beta pseudogene CGB5 19q13.32 chorionic gonadotropin, beta polypeptide 5 CGB8 19q13.32 chorionic gonadotropin, beta polypeptide 8 CGB7 19q13.32 chorionic gonadotropin, beta polypeptide 7
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 3443 - 673 - Orho (1995)
16 - 3635 - 737 - Orho (1995)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal predominantly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated PhosphoP
HOMOLOGY
intraspecies paralog to GYS2
Homologene
FAMILY
  • glucosyltransferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • the rate limiting enzyme of the insulin-induced glycogenesis,transferring glucose units from UDP-Glc to a glycogen primer
  • catalyzes the linear addition of glucose residues to the branching structure of glycogen, providing a convenient store of glucose for times of metabolic need (Cameron 2009)
  • vital for glycogen synthesis in heart and muscle, giving a reserve of critical energy during bursts of activity, sustained muscle work and hypoxia (Cameron 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
  • a complex with GYG1 and TRIM7
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by phosphorylated by epinephrine or glucagon
    Other stimulated (dephosphorylated) by insulin
    ASSOCIATED DISORDERS
    corresponding disease(s) GYS1D
    Susceptibility to type 2 diabetes
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS