| URN | urn:agi-llid:178 |
|---|---|
| Connectivity | 20 |
| Name | Agl |
| Description | amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) |
| Notes | 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. |
| Pathway | glycogen degradation pathway |
|---|
| GO Molecular Function | transferase activity |
|---|---|
| glycogen debranching enzyme activity | |
| cation binding | |
| polysaccharide binding | |
| sugar binding | |
| polyubiquitin binding | |
| hydrolase activity, acting on glycosyl bonds | |
| transferase activity, transferring glycosyl groups | |
| 4-alpha-glucanotransferase activity | |
| amylo-alpha-1,6-glucosidase activity |
| GO Cellular Component | soluble fraction |
|---|---|
| inclusion body | |
| cytoplasm | |
| cytosol | |
| sarcoplasmic reticulum | |
| nucleus | |
| isoamylase complex |
| GO Biological Process | metabolic process |
|---|---|
| glycogen biosynthetic process | |
| glycogen metabolic process | |
| glycogen catabolic process | |
| response to nutrient | |
| response to hormone stimulus | |
| response to glucocorticoid stimulus | |
| carbohydrate metabolic process |
| Ariadne Ontology | Glycogen synthesis |
|---|---|
| Glycogen degradation |
| Group | Glycogen synthesis |
|---|---|
| Glycogen degradation | |
| metabolic process | |
| glycogen biosynthetic process | |
| glycogen metabolic process | |
| glycogen catabolic process | |
| response to nutrient | |
| response to hormone stimulus | |
| response to glucocorticoid stimulus | |
| carbohydrate metabolic process | |
| transferase activity | |
| glycogen debranching enzyme activity | |
| cation binding | |
| polysaccharide binding | |
| sugar binding | |
| polyubiquitin binding | |
| hydrolase activity, acting on glycosyl bonds | |
| transferase activity, transferring glycosyl groups | |
| 4-alpha-glucanotransferase activity | |
| amylo-alpha-1,6-glucosidase activity | |
| soluble fraction | |
| inclusion body | |
| cytoplasm | |
| cytosol | |
| sarcoplasmic reticulum | |
| nucleus | |
| isoamylase complex |
| MedScan ID | 178 |
|---|
| Hugo ID | 321 |
|---|
| Human chromosome position | 1p21 |
|---|
| LocusLink ID | 178 |
|---|---|
| 77559 | |
| 362029 |
| Alias | GDE |
|---|---|
| glycogen debranching enzyme | |
| OTTHUMP00000012504 | |
| glycogen debrancher | |
| amylo-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| C77197 | |
| AI850929 | |
| 1110061O17Rik | |
| 9430004C13Rik | |
| 9630046L06Rik | |
| amylo-1,6-glucosidase, 4-alpha-glucanotransferase | |
| amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) | |
| 1110061O17 | |
| 9430004C13 | |
| 9630046L06 | |
| Amylo-1,6-glucosidase | |
| amylo-1,6-glucosidase, 4-alpha-glucanotransferase 4-alph | |
| amylo-1,6-glucosidase, 4-alpha-glucanotransferase 4-alphisoform 1 | |
| amylo-1,6-glucosidase, 4-alpha-glucanotransferase 4-alphisoform I | |
| amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 1 | |
| amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 2 | |
| amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 3 | |
| amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform I | |
| amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform II | |
| amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform III | |
| amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| glycogen storage disease type iii gene | |
| glycogen storage disease type iii protein | |
| LOC229783 | |
| LOC229784 | |
| OTTHUMP00000012500 | |
| OTTHUMP00000012501 | |
| OTTHUMP00000012502 | |
| OTTHUMP00000012503 | |
| OTTHUMP00000012505 | |
| Rat cell surface alloantigen | |
| RIKEN cDNA 1110061O17 gene | |
| amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) | |
| C77197s | |
| Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme) | |
| 4-alphisoform 1 | |
| 4-alphisoform I | |
| expressed sequence C77197 | |
| 6-glucosidase | |
| amylo-1 | |
| glycogen storage disease type iii |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 610860 |
|---|---|
| 232400 |
| Mouse chromosome position | 3 |
|---|---|
| 3 G1 |
| GO ID | 0004134 |
|---|---|
| 0004135 | |
| 0043169 | |
| 0004133 | |
| 0016798 | |
| 0030247 | |
| 0031593 | |
| 0016757 | |
| 0005975 | |
| 0005978 | |
| 0008152 | |
| 0005737 | |
| 0016234 | |
| 0043033 | |
| 0005634 | |
| 0005529 | |
| 0005980 | |
| 0005977 | |
| 0051384 | |
| 0009725 | |
| 0007584 | |
| 0016529 | |
| 0005625 | |
| 0016740 | |
| 0005829 | |
| 0005515 | |
| 0003824 | |
| 0003674 | |
| 0005575 |
| Rat chromosome position | 2q41 |
|---|
| Swiss-Prot Accession | P35573 |
|---|---|
| Q8CE68 | |
| A6NCX7 | |
| A6NEK2 | |
| P78354 | |
| P78544 | |
| Q59H92 | |
| Q6AZ90 | |
| Q9UF08 | |
| D3DT51 | |
| Q05CV0 | |
| Q6PG50 |
| Unigene ID | Hs.904 |
|---|---|
| Mm.237099 | |
| Rn.34559 |
| KEGG ID | hsa:178 |
|---|---|
| mmu:77559 | |
| rno:362029 |
| EC Number | 3.2.1.33 |
|---|---|
| 2.4.1.25 |
| Swiss-Prot ID | GDE_HUMAN |
|---|---|
| D3DT51_HUMAN |
| Cell Localization | Cytoplasm |
|---|
| IPI ID | IPI00219065 |
|---|---|
| IPI00219066 | |
| IPI00514126 | |
| IPI00807447 | |
| IPI00328318 | |
| IPI00448008 | |
| IPI00878798 | |
| IPI00662244 | |
| IPI00780237 | |
| IPI00870163 |
| Homologene ID | 536 |
|---|
| RGD ID | 1306376 |
|---|
| MGI ID | 1924809 |
|---|