MGP Database

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MGP000098

UniProt Annotations

Entry Information
Gene Nameamylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Protein EntryGDE_HUMAN
UniProt IDP35573
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=2, 3, 4; IsoId=P35573-1; Sequence=Displayed; Note=The products of the mRNAs termed isoforms 1 to 4 are identical.; Name=5; IsoId=P35573-2; Sequence=VSP_004270; Name=6; IsoId=P35573-3; Sequence=VSP_004271; Note=Ref.2 (AAB48470) sequence is in conflict in position: 4:I->L. {ECO:0000305};
Catalytic ActivityHydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin.
Catalytic ActivityTransfers a segment of a (1->4)-alpha-D-glucan to a new position in an acceptor, which may be glucose or a (1->4)-alpha-D-glucan.
DiseaseGlycogen 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:0000269|PubMed:10571954}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMultifunctional 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.
PtmThe N-terminus is blocked.
PtmUbiquitinated. {ECO:0000269|PubMed:17908927}.
Sequence CautionSequence=BAD92104.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the glycogen debranching enzyme family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:17908927}. Note=Under glycogenolytic conditions localizes to the nucleus.
SubunitMonomer. Interacts with NHLRC1/malin. {ECO:0000269|PubMed:17908927}.
Tissue SpecificityLiver, 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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