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FLASH GENE

Symbol

AGL

contributors: mct/npt - updated : 18/09/2008

HGNC name	amylo-1, 6-glucosidase, 4-alpha-glucanotransferase
HGNC id	321

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 34 splicing initiation site 7371 174.6 1532 - Bao differing in the 5' UTR compared to variant 4 variants 1, 2, 3 and 4 encode the same protein variant 2 34 splicing initiation site 7109 174.6 1532 muscle specific Bao differing in the 5' UTR compared to variant 4 variants 1, 2, 3 and 4 encode the same protein variant 3 34 splicing initiation site 7169 174.6 1532 muscle specific Bao differing in the 5' UTR, compared to variant 4 variants 1, 2, 3 and 4 encode the same protein variant 4 34 splicing initiation site 7449 174.6 1532 muscle specific Bao variants 1, 2, 3 and 4 encode the same protein variant 5 32 splicing 7182 172.5 1515 muscle Bao differing in the 5' UTR and coding region compared to variant 4 variant 6 34 splicing 7182 172.6 1516 liver, muscle Bao differing in the 5' UTR and coding region compared to variant 4

EXPRESSION

Type

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         Digestive liver         Nervous brain           spinal cord       highly Reproductive male system prostate       Respiratory lung         Urinary kidney

tissue

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

cell lineage	lymphoblastoid cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	alpha amylase catalytic domain
	CBD (arbohydrate-binding domain) playing a major role to coordinate its functions and regulation by the ubiquitin–proteasome system (Cheng 2009)
	C-terminal region binding to glycogen
	two separate domains for the transferase and glucosidase activities

mono polymer

monomer

HOMOLOGY

interspecies	homolog to dog AGL (93.8 pc)
	homolog to rattus Agl (92.2 pc)
	homolog to murine Agl (91.8 pc)
	homolog to chicken AGL (81.7 pc)

Homologene

FAMILY	multifunctional enzyme
	glycogen debranching enzyme family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	acting as an amylo-1,6-glucosidase (4-alpha-glucantransferase) implicated in glycogen catabolism
	acting as a 1,4-alpha-D-glucan : 1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

	glycogen catabolism
	glycogen biosynthesis

a component

INTERACTION

DNA

RNA

small molecule

protein

binding AMPK beta1-subunit (in mouse)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GSD3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS