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AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000028 Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
NM_000642 Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
NM_000643 Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
NM_000644 Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
NM_000645 Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
NM_000646 Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 6, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
XM_005270557 PREDICTED: Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $2699.00 30

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Related Services

Gene Symbol AGL
Entrez Gene ID 178
Full Name amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Synonyms GDE
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1p21

Summary 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].
Disorder

MIM: 610860

Glycogen storage disease IIIa, 232400 (3); Glycogen storage disease

mRNA Protein Product Sequence Price Select
NM_000028, 116734846 NP_000019, 116734847 glycogen debranching enzyme isoform 1 ORF Sequence $2500.00
NM_000642, 116734859 NP_000633, 116734860 glycogen debranching enzyme isoform 1 ORF Sequence $2500.00
NM_000643, 116734850 NP_000634, 116734851 glycogen debranching enzyme isoform 1 ORF Sequence $2500.00
NM_000644, 116734856 NP_000635, 116734857 glycogen debranching enzyme isoform 1 ORF Sequence $2500.00
NM_000645, 116734848 NP_000636, 116734849 glycogen debranching enzyme isoform 2 ORF Sequence $2500.00
NM_000646, 116734852 NP_000637, 116734853 glycogen debranching enzyme isoform 3 ORF Sequence $2500.00
XM_005270557, 530361984 XP_005270614, 530361985 glycogen debranching enzyme isoform X1 ORF Sequence $2500.00
KEGG
hsa00500Starch and sucrose metabolism
WikiPathways
WP500Glycogen Metabolism
Reactome
REACT_1008Glycogen breakdown (glycogenolysis)
REACT_474Metabolism of carbohydrates
REACT_723Glucose metabolism
REACT_111217Metabolism
REACT_116125Disease
REACT_200783Myoclonic epilepsy of Lafora
REACT_200833Glycogen storage diseases
Homo sapiens (human)AGLNP_000635.2
Pan troglodytes (chimpanzee)AGLXP_001159352.1
Macaca mulatta (Rhesus monkey)AGLXP_001106287.1
Canis lupus familiaris (dog)AGLNP_001041561.1
Bos taurus (cattle)AGLNP_001179400.1
Mus musculus (house mouse)AglNP_001074795.1
Rattus norvegicus (Norway rat)AglNP_001102034.1
Danio rerio (zebrafish)aglaNP_001166124.1
Drosophila melanogaster (fruit fly)CG9485NP_726062.2
Caenorhabditis elegansagl-1NP_496984.1
Xenopus (Silurana) tropicalis (western clawed frog)aglNP_001072609.1
Process
IDNameEvidence
GO:0005975carbohydrate metabolic processTAS
GO:0005978glycogen biosynthetic processIEA
GO:0005980glycogen catabolic processIBA
GO:0005980glycogen catabolic processTAS
GO:0006006glucose metabolic processTAS
GO:0007584response to nutrientIEA
GO:0044281small molecule metabolic processTAS
GO:0051384response to glucocorticoidIEA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0005829cytosolTAS
GO:0016234inclusion bodyIEA
GO:0016529sarcoplasmic reticulumIEA
GO:0043033isoamylase complexTAS
Function
IDNameEvidence
GO:0004133glycogen debranching enzyme activityTAS
GO:00041344-alpha-glucanotransferase activityIBA
GO:0004135amylo-alpha-1,6-glucosidase activityIBA
GO:0005515protein bindingIPI
GO:0030247polysaccharide bindingIEA
GO:0031593polyubiquitin bindingIEA
GeneCards AGL
UniProt P35573
Vega OTTHUMG00000010803
MIM 610860
Ensembl ENSG00000162688
HGNC 321
HPRD 01984

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the AGL gene?

The AGL gene provides instructions for making the glycogen debranching enzyme. This enzyme is involved in the breakdown of a complex sugar called glycogen, which is a major source of stored energy in the body. Glycogen is made up of several molecules of a simple sugar called glucose. Some glucose molecules are linked together in a straight line, while others branch off and form side chains. The glycogen debranching enzyme is involved in the breakdown of these side chains. The branched structure of glycogen makes it more compact for storage and allows it to break down more easily when it is needed for fuel.

The AGL gene provides instructions for making several different versions (isoforms) of the glycogen debranching enzyme. These isoforms vary by size and are active (expressed) in different tissues.

Interactant

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