Version 5.4
Homo sapiens Gene: AGL
Summary
InnateDB Gene IDBG-100451.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AGL
Gene Name amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Synonyms GDE
Species Homo sapiens
Ensembl Gene ENSG00000162688
Encoded Proteins
IDBP-100455
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
IDBP-100457
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
IDBP-100459
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
IDBP-100461
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
IDBP-100463
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
IDBP-100465
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
IDBP-100467
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:99850084-99924023
Strand Forward strand
Band p21.2
Transcripts
ENST00000361915 ENSP00000355106
ENST00000294724 ENSP00000294724
ENST00000370163 ENSP00000359182
ENST00000370165 ENSP00000359184
ENST00000370161 ENSP00000359180
ENST00000361302 ENSP00000354971
ENST00000361522 ENSP00000354635
ENST00000477753
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
Experimentally validated
Total 23 [view]
Protein-Protein 22 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004133 glycogen debranching enzyme activity
GO:0004134 4-alpha-glucanotransferase activity
GO:0004135 amylo-alpha-1,6-glucosidase activity
GO:0005515 protein binding
GO:0030246 carbohydrate binding
GO:0030247 polysaccharide binding
GO:0031593 polyubiquitin binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0005977 glycogen metabolic process
GO:0005978 glycogen biosynthetic process
GO:0005980 glycogen catabolic process
GO:0006006 glucose metabolic process
GO:0007584 response to nutrient
GO:0009725 response to hormone
GO:0044281 small molecule metabolic process
GO:0051384 response to glucocorticoid
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016234 inclusion body
GO:0016529 sarcoplasmic reticulum
GO:0043033 isoamylase complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000033400
View Gene Order
ENSBTAG00000006491
Not yet available
Pathways
NETPATH
REACTOME
REACT_1008
Glycogen breakdown (glycogenolysis) pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_111217
Metabolism pathway
REACT_116125
Disease pathway
REACT_723
Glucose metabolism pathway
REACT_200833
Glycogen storage diseases pathway
KEGG
hsa00500
Starch and sucrose metabolism pathway
INOH
PID NCI
Cross-References
SwissProt P35573
TrEMBL G1UI17
UniProt Splice Variant
Entrez Gene 178
UniGene Hs.904
RefSeq NM_000028 NM_000642 NM_000643 NM_000644 NM_000645 NM_000646 XM_005270557
HUGO HGNC:321
OMIM 610860
CCDS CCDS759 CCDS760 CCDS761
HPRD
IMGT
EMBL AB035443 AB208867 AB621804 AC096949 BC078663 CH471097 M85168 U84007 U84008 U84009 U84010 U84011
GenPept AAB41040 AAB48466 AAB48467 AAB48468 AAB48469 AAB48470 AAH78663 BAA88405 BAD92104 BAK64140 EAW72982 EAW72983 EAW72985 EAW72987
RNA Seq Atlas 178

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca