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FLASH GENE

Symbol

GBE1

contributors: mct - updated : 03-02-2017

HGNC name	glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)
HGNC id	4180

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	APBN adult polyglucosan body neuropathy GSD4 glycogen storage disease, type IV
Location	3p12.2      Physical location : 81.538.849 - 81.810.950
Synonym symbol(s)	GBE
EC.number	2.4.1.18

DNA

TYPE	functioning gene
STRUCTURE	272.10 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000158 16 - 3118 NP_000149 - 702 - 1993 8463281

EXPRESSION

Type

widely

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 Digestive esophagus       highly   liver       highly   mouth tongue     highly Endocrine adrenal gland       highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

monomer

HOMOLOGY

Homologene

FAMILY

glycosyl hydrolase 13 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	amylo (1,4->1,6) trans-glucosidase, branching enzyme, functioning in glycogen symthesis by catalyzing the formation of alpha 1,6- glucosidic linkages
	playing an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells
	plays an essential role in glycogen biosynthesis by generating &
	945;-1,6-glucosidic branches from &
	945;-1,4-linked glucose chains, to increase solubility of the glycogen polymer

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

NFE2L2 induction in skeletal muscle (SkM) increases GBE1 and PHKA1 expression and reduces muscle glycogen content, resulting in improved glucose tolerance

cell & other

REGULATION

activated by	thyroid hormones
	hypoxia that upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1), two enzymes involved in the biosynthesis of glycogen

ASSOCIATED DISORDERS

corresponding disease(s)

GSD4 , APBN

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS