InnateDB Protein
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IDBP-100459.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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AGL
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Protein Name
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amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
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Synonyms
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GDE;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000359182
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InnateDB Gene
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IDBG-100451 (AGL)
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Protein Structure
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Function |
Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4- alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6- glucosidase in glycogen degradation.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:17908927}. Note=Under glycogenolytic conditions localizes to the nucleus.
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Disease Associations |
Glycogen storage disease 3 (GSD3) [MIM:232400]: A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. {ECO:0000269PubMed:10571954}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present in both liver and muscle.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
23
[view]
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Protein-Protein |
22
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR006421
Glycogen debranching enzyme, metazoa
IPR008928
Six-hairpin glycosidase-like
IPR010401
Glycogen debranching enzyme
IPR017853
Glycoside hydrolase, superfamily
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PFAM |
PF06202
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P35573
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PhosphoSite |
PhosphoSite-P35573
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TrEMBL |
G1UI17
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UniProt Splice Variant |
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Entrez Gene |
178
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UniGene |
Hs.904
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RefSeq |
NP_000634
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HUGO |
HGNC:321
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OMIM |
610860
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CCDS |
CCDS759
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HPRD |
01984
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IMGT |
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EMBL |
AB035443
AB208867
AB621804
AC096949
BC078663
CH471097
M85168
U84007
U84008
U84009
U84010
U84011
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GenPept |
AAB41040
AAB48466
AAB48467
AAB48468
AAB48469
AAB48470
AAH78663
BAA88405
BAD92104
BAK64140
EAW72982
EAW72983
EAW72985
EAW72987
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