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This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
AGL (Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase) is a Protein Coding gene. Diseases associated with AGL include Glycogen Storage Disease Iii and Glycogen Storage Disease. Among its related pathways are Innate Immune System and Galactose metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and polysaccharide binding.
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004133 | glycogen debranching enzyme activity | TAS | 1374391 |
GO:0004134 | 4-alpha-glucanotransferase activity | EXP,IBA | 21873635 |
GO:0004135 | amylo-alpha-1,6-glucosidase activity | EXP,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 17908927 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 17908927 |
GO:0005829 | cytosol | TAS | -- |
GO:0016234 | inclusion body | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
|
|
2 | Metabolism |
.40
|
|
3 | Galactose metabolism |
Glycogen metabolism
.01
|
|
4 | Glucose metabolism | ||
5 | Glycosaminoglycan metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0005977 | glycogen metabolic process | IEA | -- |
GO:0005978 | glycogen biosynthetic process | IEA | -- |
GO:0005980 | glycogen catabolic process | TAS | -- |
GO:0007584 | response to nutrient | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
D-glucose | Approved, Experimental, Investigational, Vet_approved | Pharma | 0 | |||
Water | Approved | Pharma | 0 | |||
Acarbose | Approved, Investigational | Pharma | Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) | 102 | ||
maltose | Experimental, Investigational | Pharma | 0 | |||
Castanospermine | Experimental | Pharma | Glucosidases alpha and beta inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Glycogen |
|
9005-79-2 | ||||
alpha-D-Glucose |
|
492-62-6 |
|
|||
Dextrin |
|
9004-53-9 |
|
|||
Miglustat hydrochloride |
|
210110-90-0 |
|
|
Compound | Action | Cas Number |
---|---|---|
1-Deoxymannojirimycin hydrochloride | alpha-Mannosidase I inhibitor | 73465-43-7 |
1-Deoxynojirimycin | Glucosidase I and II inhibitor | 19130-96-2 |
Acarbose | Glucosidase alpha inhibitor (intestinal) | 56180-94-0 |
Castanospermine | Glucosidases alpha and beta inhibitor | 79831-76-8 |
Miglustat hydrochloride | alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases | 210110-90-0 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17a | · | 17b | · | 17c | ^ | 18 | ^ | 19 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 20 | ^ | 21 | ^ | 22 |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: | |||||
SP8: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AGL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AGL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AGL 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AGL 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Agl 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Agl 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AGL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AGL 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AGL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | agl 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.22218 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | aglb 31 |
|
OneToMany | |
agla 30 31 |
|
OneToMany | |||
CABZ01041804.1 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5559 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9485 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001200 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | agl-1 30 31 |
|
OneToOne | |
R06A4.8 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GDB1 30 31 33 33 33 33 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AEL276C 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU00743 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4153 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
256752 | Likely Benign: not specified | 99,874,669(+) |
G/GTCTTTTCTTTCTT
NM_000642.2(AGL):c.965_966insTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG (p.Arg322Serfs) |
||
804334 | Pathogenic: Glycogen storage disease type III | 99,900,753(+) |
TATCCAGGATTACTGT
NM_000642.3(AGL):c.3481_3589-407del |
SPLICE_DONOR | |
813333 | Pathogenic: Glycogen storage disease type III | 99,900,751(+) |
TGTATCCAGGATTACT
NM_000642.3(AGL):c.3481_3589-405del |
SPLICE_DONOR | |
835025 | Uncertain Significance: Glycogen storage disease type III | 99,880,026(+) |
G/T NM_000642.3(AGL):c.1715G>T (p.Gly572Val) |
MISSENSE | |
835381 | Pathogenic: Glycogen storage disease type III | 99,891,311(+) |
C/CT NM_000642.3(AGL):c.2905dup (p.Tyr969fs) |
FRAMESHIFT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2655277 | CNV | deletion | 19546169 |
esv2758952 | CNV | loss | 17122850 |
esv3304048 | CNV | mobile element insertion | 20981092 |
esv3357668 | CNV | insertion | 20981092 |
nsv1002853 | CNV | gain | 25217958 |
nsv1003259 | CNV | loss | 25217958 |
nsv1132827 | CNV | insertion | 24896259 |
nsv428146 | CNV | gain | 18775914 |
nsv523220 | CNV | loss | 19592680 |
nsv526047 | CNV | gain | 19592680 |
nsv947436 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
glycogen storage disease iii |
|
|
glycogen storage disease |
|
|
hypoglycemia |
|
|
macular telangiectasia type 2 |
|
|
glycogen storage disease vi |
|
|