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FLASH GENE

Symbol

GYS1

contributors: mct/npt - updated : 06-03-2010

HGNC name	glycogen synthase 1 (muscle)
HGNC id	4706

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001161587 - - 3443 NP_001155059 - 673 - Orho (1995) NM_002103 16 - 3635 NP_002094 - 737 - Orho (1995)

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   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