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Aliases for AGL Gene

Aliases for AGL Gene

  • Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase 2 3
  • GDE 3 4 6
  • Amylo-1, 6-Glucosidase, 4-Alpha-Glucanotransferase 2 3
  • Glycogen Debranching Enzyme 2 3
  • Glycogen Debrancher 3 4
  • Glycogen Storage Disease Type III 2

External Ids for AGL Gene

Previous GeneCards Identifiers for AGL Gene

  • GC01P101113
  • GC01P099441
  • GC01P099606
  • GC01P099778
  • GC01P100027
  • GC01P100088
  • GC01P100315
  • GC01P098438

Summaries for AGL Gene

Entrez Gene Summary for AGL Gene

  • 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]

GeneCards Summary for AGL Gene

AGL (Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase) is a Protein Coding gene. Diseases associated with AGL include glycogen storage disease iiia and finger agnosia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include polyubiquitin binding and glycogen debranching enzyme activity.

UniProtKB/Swiss-Prot for AGL Gene

  • 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

Tocris Summary for AGL Gene

Gene Wiki entry for AGL Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGL Gene

Genomics for AGL Gene

Regulatory Elements for AGL Gene

Transcription factor binding sites by QIAGEN in the AGL gene promoter:

Genomic Location for AGL Gene

Start:
99,850,077 bp from pter
End:
99,924,023 bp from pter
Size:
73,947 bases
Orientation:
Plus strand

Genomic View for AGL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AGL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGL Gene

Proteins for AGL Gene

  • Protein details for AGL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35573-GDE_HUMAN
    Recommended name:
    Glycogen debranching enzyme
    Protein Accession:
    P35573
    Secondary Accessions:
    • A6NCX7
    • A6NEK2
    • D3DT51
    • P78354
    • P78544
    • Q59H92
    • Q6AZ90
    • Q9UF08

    Protein attributes for AGL Gene

    Size:
    1532 amino acids
    Molecular mass:
    174764 Da
    Quaternary structure:
    • Monomer. Interacts with NHLRC1/malin.
    SequenceCaution:
    • Sequence=BAD92104.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AGL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGL Gene

Proteomics data for AGL Gene at MOPED

Post-translational modifications for AGL Gene

No data available for DME Specific Peptides for AGL Gene

Domains for AGL Gene

Suggested Antigen Peptide Sequences for AGL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35573

UniProtKB/Swiss-Prot:

GDE_HUMAN :
  • P35573
Family:
  • Belongs to the glycogen debranching enzyme family.
genes like me logo Genes that share domains with AGL: view

No data available for Gene Families for AGL Gene

Function for AGL Gene

Molecular function for AGL Gene

GENATLAS Biochemistry: amylo-1,6-glucosidase (4-alpha-glucantransferase),debranching enzyme,160kDa,glycogen catabolism) with liver,muscle specific and four further minor alternatively spliced isoforms
UniProtKB/Swiss-Prot CatalyticActivity: 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
UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin
UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for AGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004133 glycogen debranching enzyme activity TAS 1374391
GO:0004134 4-alpha-glucanotransferase activity IBA --
GO:0004135 amylo-alpha-1,6-glucosidase activity IBA --
GO:0005515 protein binding IPI 17908927
genes like me logo Genes that share ontologies with AGL: view

Phenotypes for AGL Gene

genes like me logo Genes that share phenotypes with AGL: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for AGL Gene

Localization for AGL Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGL Gene

Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AGL Gene COMPARTMENTS Subcellular localization image for AGL gene
Compartment Confidence
cytosol 4
nucleus 4
endoplasmic reticulum 2
extracellular 1

Gene Ontology (GO) - Cellular Components for AGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0016234 inclusion body IEA --
genes like me logo Genes that share ontologies with AGL: view

Pathways for AGL Gene

genes like me logo Genes that share pathways with AGL: view

Pathways by source for AGL Gene

1 BioSystems pathway for AGL Gene
2 KEGG pathways for AGL Gene
1 GeneGo (Thomson Reuters) pathway for AGL Gene

Gene Ontology (GO) - Biological Process for AGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0005977 glycogen metabolic process --
GO:0005978 glycogen biosynthetic process IEA --
GO:0005980 glycogen catabolic process TAS --
GO:0006006 glucose metabolic process TAS --
genes like me logo Genes that share ontologies with AGL: view

Compounds for AGL Gene

(5) Tocris Compounds for AGL Gene

Compound Action Cas Number
1-Deoxynojirimycin Glucosidase I and II inhibitor [19130-96-2]
Castanospermine Glucosidases alpha and beta inhibitor [79831-76-8]
Kifunensine Inhibitor of class I alpha-mannosidases [109944-15-2]
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases [210110-90-0]
Voglibose Orally active alpha-glucosidase inhibitor [83480-29-9]

(7) HMDB Compounds for AGL Gene

Compound Synonyms Cas Number PubMed IDs
Alpha-D-Glucose
  • Hexopyranose
492-62-6
Amylose
  • 4-{(1,4)-alpha-D-Glucosyl}(n-1)-D-glucose
9005-82-7
Dextrin
  • Caloreen
9004-53-9
D-Glucose
  • (+)-Glucose
50-99-7
D-Maltose
  • alpha-Malt sugar
69-79-4

(7) Novoseek inferred chemical compound relationships for AGL Gene

Compound -log(P) Hits PubMed IDs
glycogen 86.2 86
icodextrin 71.4 2
starch 47 4
glucose 19.5 2
fluoride 15.2 1
genes like me logo Genes that share compounds with AGL: view

Transcripts for AGL Gene

Unigene Clusters for AGL Gene

Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AGL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^
SP1:
SP2: -
SP3:
SP4:
SP5: - -
SP6:
SP7: -
SP8:

ExUns: 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for AGL Gene

GeneLoc Exon Structure for
AGL
ECgene alternative splicing isoforms for
AGL

Expression for AGL Gene

mRNA expression in normal human tissues for AGL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AGL Gene

This gene is overexpressed in Muscle - Skeletal (10.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AGL Gene

SOURCE GeneReport for Unigene cluster for AGL Gene Hs.904

mRNA Expression by UniProt/SwissProt for AGL Gene

P35573-GDE_HUMAN
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
genes like me logo Genes that share expressions with AGL: view

Orthologs for AGL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AGL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AGL 35
  • 99.7 (n)
  • 99.8 (a)
AGL 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AGL 35
  • 91.73 (n)
  • 92.56 (a)
AGL 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AGL 35
  • 93.06 (n)
  • 93.86 (a)
AGL 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Agl 35
  • 86.16 (n)
  • 91.91 (a)
Agl 16
Agl 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AGL 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AGL 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Agl 35
  • 87.25 (n)
  • 92.17 (a)
chicken
(Gallus gallus)
Aves AGL 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AGL 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.22218 35
tropical clawed frog
(Silurana tropicalis)
Amphibia agl 35
  • 70.36 (n)
  • 74 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5559 35
zebrafish
(Danio rerio)
Actinopterygii agla 35
  • 68.8 (n)
  • 75.15 (a)
agla 36
  • 75 (a)
OneToMany
aglb 36
  • 72 (a)
OneToMany
CABZ01041804.1 36
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001200 35
  • 50.59 (n)
  • 48.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9485 35
  • 52.02 (n)
  • 48.86 (a)
CG9485 36
  • 44 (a)
OneToOne
CG9485 37
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea agl-1 35
  • 50.93 (n)
  • 46.11 (a)
agl-1 36
  • 45 (a)
OneToOne
R06A4.8 37
  • 43 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL276C 35
  • 47.42 (n)
  • 41.96 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDB1 35
  • 51.61 (n)
  • 44.15 (a)
GDB1 36
  • 38 (a)
OneToOne
GDB1 38
GDB1 38
GDB1 38
GDB1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU00743 35
  • 46.88 (n)
  • 40.64 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4153 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for AGL:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AGL Gene

ENSEMBL:
Gene Tree for AGL (if available)
TreeFam:
Gene Tree for AGL (if available)

Paralogs for AGL Gene

No data available for Paralogs for AGL Gene

Variants for AGL Gene

Sequence variations from dbSNP and Humsavar for AGL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs479102 -- 99,857,373(-) ccggc(C/T)accct intron-variant
rs481102 -- 99,869,137(-) ATAAA(A/G)AATAA intron-variant
rs481932 -- 99,857,061(-) CCCTG(C/T)CCGGC intron-variant
rs482825 -- 99,873,222(+) GTATT(C/T)TTAAA intron-variant
rs486408 -- 99,887,200(+) AAAAT(A/G)GCAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AGL Gene

Variant ID Type Subtype PubMed ID
nsv526047 CNV Gain 19592680
dgv274n71 CNV Loss 21882294
nsv871116 CNV Gain 21882294
nsv523220 CNV Loss 19592680
esv268327 CNV Insertion 20981092
dgv73e1 CNV Complex 17122850
nsv428146 CNV Gain 18775914
esv2655277 CNV Deletion 19546169

Relevant External Links for AGL Gene

HapMap Linkage Disequilibrium report
AGL
Human Gene Mutation Database (HGMD)
AGL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGL Gene

Disorders for AGL Gene

(1) OMIM Diseases for AGL Gene (610860)

UniProtKB/Swiss-Prot

GDE_HUMAN
  • 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:0000269 PubMed:10571954}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(10) Novoseek inferred disease relationships for AGL Gene

Disease -log(P) Hits PubMed IDs
glycogen storage disease type iii 98.9 42
glycogen storage disease 89.6 8
hepatomegaly 67.2 4
enzyme deficiency 63.3 1
hypoglycemia 61.9 4

Relevant External Links for AGL

Genetic Association Database (GAD)
AGL
Human Genome Epidemiology (HuGE) Navigator
AGL
genes like me logo Genes that share disorders with AGL: view

Publications for AGL Gene

  1. Assignment of the human glycogen debrancher gene to chromosome 1p21. (PMID: 1505983) Yang-Feng T.L. … Kao F.T. (Genomics 1992) 2 3 23
  2. A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. (PMID: 8702417) Okubo M. … Murase T. (Biochem. Biophys. Res. Commun. 1996) 3 23 48
  3. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. (PMID: 8755644) Shen J. … Chen Y.T. (J. Clin. Invest. 1996) 3 23 48
  4. Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region. (PMID: 8954797) Bao Y. … Chen Y.-T. (Genomics 1996) 3 4 23
  5. A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. (PMID: 8990006) Shen J. … Chen Y.T. (Hum. Mutat. 1997) 3 23 48

Products for AGL Gene

Sources for AGL Gene

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