Homo sapiens Gene: AGL | |||||||||||||||||||
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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 |
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
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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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 1:99850084-99924023 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | p21.2 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Glycogen breakdown (glycogenolysis) pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Metabolism pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
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KEGG |
Starch and sucrose metabolism pathway
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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 | ||||||||||||||||||