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FLASH GENE

Symbol

GYG1

contributors: npt/ - updated : 12-04-2006

HGNC name	glycogenin 1
HGNC id	4699

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GSD15 glycogen storage disease, type XV
Location	3q24      Physical location : 148.709.194 - 148.745.455
Synonym name	glycogenin muscle form
Synonym symbol(s)	GYG, GN1
EC.number	2.4.1.186

DNA

TYPE	functioning gene
STRUCTURE	36.04 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	two major initiation sites 80 and 86bp upstream the initiation of translation codon (van Maanen 1999)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004130 8 - 2051 NP_004121 - 350 - - NM_001184720 - - 2000 NP_001171649 - 333 - - NM_001184721 - - 1780 NP_001171650 - 279 - -

EXPRESSION

Type	ubiquitous

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive liver         Reproductive male system testis     highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

GlycoP , PhosphoP

mono polymer

homomer , dimer , complex

HOMOLOGY

interspecies	homolog to murine Gyg
	homolog to rattus Gyg1

Homologene

FAMILY

glycogenin family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
text	colocalized with glycogen synthase

basic FUNCTION	glycogenin glycosyltransferase activity
	involved in the initiation reactions of glycogen synthesis, forming a protein primer for glycogen biosynthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

glycogen biosynthesis

a component

homodimer complexing with glycogen synthase

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor,
	Mn2+ is required for self glucosylation

protein

binding to GYG2

cell & other

REGULATION

Other	self glycosylating protein
	up-regulated in muscle after prolonged exhaustive exercise, to facilitate rapid glycogen resynthesis
	inactivated with glycogen catabolism

ASSOCIATED DISORDERS

corresponding disease(s)

GSD15

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS