Human Gene AGL (ENST00000294724.8) from GENCODE V44
Description: Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 4, mRNA. (from RefSeq NM_000028) RefSeq Summary (NM_000028): 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]. Gencode Transcript: ENST00000294724.8 Gencode Gene: ENSG00000162688.17 Transcript (Including UTRs) Position: hg38 chr1:99,850,489-99,924,020 Size: 73,532 Total Exon Count: 34 Strand: + Coding Region Position: hg38 chr1:99,851,043-99,921,651 Size: 70,609 Coding Exon Count: 33
ID:GDE_HUMAN DESCRIPTION: RecName: Full=Glycogen debranching enzyme; AltName: Full=Glycogen debrancher; Includes: RecName: Full=4-alpha-glucanotransferase; EC=2.4.1.25; AltName: Full=Oligo-1,4-1,4-glucantransferase; Includes: RecName: Full=Amylo-alpha-1,6-glucosidase; Short=Amylo-1,6-glucosidase; EC=3.2.1.33; AltName: Full=Dextrin 6-alpha-D-glucosidase; 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. CATALYTIC ACTIVITY: Transfers 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. CATALYTIC ACTIVITY: Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin. SUBUNIT: Monomer. Interacts with NHLRC1/malin. SUBCELLULAR LOCATION: Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus. 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. PTM: The N-terminus is blocked. PTM: Ubiquitinated. DISEASE: Defects in AGL are the cause of glycogen storage disease type 3 (GSD3) [MIM:232400]; also known as Forbes disease. GSD3 is a metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. Three GSD3 types are recognized: 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. GSD3 is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. SIMILARITY: Belongs to the glycogen debranching enzyme family. SEQUENCE CAUTION: Sequence=BAD92104.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AGL";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P35573
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
