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    AGL amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase [ Homo sapiens (human) ]

    Gene ID: 178, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AGLprovided by HGNC
    Official Full Name
    amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:321
    See related
    Ensembl:ENSG00000162688 MIM:610860; AllianceGenome:HGNC:321
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GDE
    Summary
    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]
    Expression
    Ubiquitous expression in liver (RPKM 9.7), esophagus (RPKM 9.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AGL in Genome Data Viewer
    Location:
    1p21.2
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (99849258..99924023)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (99697491..99772284)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100315917..100389576)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1361 Neighboring gene RNA, U4 small nuclear 75, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:100274830-100275330 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:100301802-100302438 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:100315063-100316037 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:100316038-100317011 Neighboring gene ribosomal protein L39 pseudogene 9 Neighboring gene uncharacterized LOC124904230 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:100415895-100416089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1365 Neighboring gene solute carrier family 35 member A3 Neighboring gene RNA, U6 small nuclear 750, pseudogene Neighboring gene RNA, U6 small nuclear 1318, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey. Endo Y, et al. J Hum Genet, 2006. PMID 17047887
    2. Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III. Perveen S, et al. Am J Med Genet A, 2020 May. PMID 32222031
    3. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. Santer R, et al. Eur J Hum Genet, 2001 May. PMID 11378828
    4. Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients. Abdullah IS, et al. Genes Genomics, 2019 Aug. PMID 31028654
    5. Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III. Horinishi A, et al. J Hum Genet, 2002. PMID 11924557

    See all (103) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.
      Title: Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.
    2. Six novel mutations were identified in GSD III patients.
      Title: Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.
    3. This report of patients with GSD-III in Iran with 2 uncommon clinical presentations and 5 novel mutations in the AGL gene.
      Title: Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.
    4. The study identified 31 novel mutations and extended the mutation spectrum of AGL in Chinese patients with glycogen storage disease type III.
      Title: Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.
    5. Our study establishes HAS2-mediated HA synthesis as a driver of growth of bladder cancer with low AGL and provides preclinical rationale for personalized targeting of HAS2/HA signaling in patients with low amylo-alpha-1-6-glucosidase-4-alpha-glucanotransferase -expressing tumors.
      Title: Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis.
    6. AGL loss causes high SHMT2 expression and consequently increases glycine-dependent nucleotide synthesis leading to bladder cancer growth.
      Title: Metabolic phenotype of bladder cancer.
    7. Point mutations in AGL gene are associated with glycogen storage disease type IIIa in a Chinese family.
      Title: [Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].
    8. Haplotype analysis revealed that the mutation arises as a result of founder effect, not an independent event.
      Title: A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
    9. AGL haplotype analyses suggested that c.1019delA and c.958+1G>A are founder mutations in Turkish patients, while p.R864X is a recurrent mutation.
      Title: Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.
    10. A homozygous frameshift deletion, c.4456delT, in exon 33 of the AGL gene in Inuit children determines the cause of glycogen storage disease type IIIa and confirms a founder effect.
      Title: A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Glycogen storage disease type III
    MedGen: C0017922 OMIM: 232400 GeneReviews: Glycogen Storage Disease Type III
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog
    White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4-alpha-glucanotransferase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables 4-alpha-glucanotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables amylo-alpha-1,6-glucosidase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables amylo-alpha-1,6-glucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glycogen debranching enzyme activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables polysaccharide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables polyubiquitin modification-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glycogen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycogen catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycogen catabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in inclusion body IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of isoamylase complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sarcoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    glycogen debranching enzyme
    Names
    amylo-1, 6-glucosidase, 4-alpha-glucanotransferase
    amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
    amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided
    glycogen debrancher
    glycogen debranching protein
    NP_000019.2
    NP_000633.2
    NP_000634.2
    NP_000635.2
    NP_000637.2
    NP_001412254.1
    NP_001412255.1
    NP_001412256.1
    NP_001412257.1
    NP_001412258.1
    NP_001412261.1
    XP_005270614.1
    XP_016855990.1
    XP_054190771.1
    XP_054190772.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012865.1 RefSeqGene

      Range
      5278..78937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000028.3 → NP_000019.2  glycogen debranching enzyme isoform 1

      See identical proteins and their annotated locations for NP_000019.2

      Status: REVIEWED

      Source sequence(s)
      AC096949
      Consensus CDS
      CCDS759.1
      UniProtKB/Swiss-Prot
      A6NCX7, A6NEK2, D3DT51, P35573, P78354, P78544, Q59H92, Q6AZ90, Q9UF08
      UniProtKB/TrEMBL
      A0A0M4G3H8, A0A0S2A4E4
      Related
      ENSP00000294724.4, ENST00000294724.8
      Conserved Domains (1) summary
      TIGR01531
      Location:22 → 1532
      glyc_debranch; glycogen debranching enzymye

    2. NM_000642.3 → NP_000633.2  glycogen debranching enzyme isoform 1

      See identical proteins and their annotated locations for NP_000633.2

      Status: REVIEWED

      Source sequence(s)
      AC096949, AK130308, BC078663, U84007
      Consensus CDS
      CCDS759.1
      UniProtKB/Swiss-Prot
      A6NCX7, A6NEK2, D3DT51, P35573, P78354, P78544, Q59H92, Q6AZ90, Q9UF08
      UniProtKB/TrEMBL
      A0A0M4G3H8, A0A0S2A4E4
      Related
      ENSP00000355106.3, ENST00000361915.8
      Conserved Domains (1) summary
      TIGR01531
      Location:22 → 1532
      glyc_debranch; glycogen debranching enzymye

    3. NM_000643.3 → NP_000634.2  glycogen debranching enzyme isoform 1

      See identical proteins and their annotated locations for NP_000634.2

      Status: REVIEWED

      Source sequence(s)
      AC096949
      Consensus CDS
      CCDS759.1
      UniProtKB/Swiss-Prot
      A6NCX7, A6NEK2, D3DT51, P35573, P78354, P78544, Q59H92, Q6AZ90, Q9UF08
      UniProtKB/TrEMBL
      A0A0M4G3H8, A0A0S2A4E4
      Related
      ENSP00000359182.3, ENST00000370163.7
      Conserved Domains (1) summary
      TIGR01531
      Location:22 → 1532
      glyc_debranch; glycogen debranching enzymye

    4. NM_000644.3 → NP_000635.2  glycogen debranching enzyme isoform 1

      See identical proteins and their annotated locations for NP_000635.2

      Status: REVIEWED

      Source sequence(s)
      AC096949
      Consensus CDS
      CCDS759.1
      UniProtKB/Swiss-Prot
      A6NCX7, A6NEK2, D3DT51, P35573, P78354, P78544, Q59H92, Q6AZ90, Q9UF08
      UniProtKB/TrEMBL
      A0A0M4G3H8, A0A0S2A4E4
      Related
      ENSP00000359184.3, ENST00000370165.7
      Conserved Domains (1) summary
      TIGR01531
      Location:22 → 1532
      glyc_debranch; glycogen debranching enzymye

    5. NM_000646.3 → NP_000637.2  glycogen debranching enzyme isoform 3

      See identical proteins and their annotated locations for NP_000637.2

      Status: REVIEWED

      Source sequence(s)
      AC096949
      Consensus CDS
      CCDS760.1
      UniProtKB/TrEMBL
      A0A0M4G3H8
      Related
      ENSP00000359180.2, ENST00000370161.6
      Conserved Domains (5) summary
      cd11327
      Location:89 → 567
      AmyAc_Glg_debranch_2; Alpha amylase catalytic domain found in glycogen debranching enzymes
      TIGR01531
      Location:11 → 1516
      glyc_debranch; glycogen debranching enzymye
      pfam06202
      Location:1026 → 1511
      GDE_C; Amylo-alpha-1,6-glucosidase
      pfam14699
      Location:15 → 100
      hGDE_N; N-terminal domain from the human glycogen debranching enzyme
      pfam14702
      Location:681 → 958
      hGDE_central; central domain of human glycogen debranching enzyme

    6. NM_001425325.1 → NP_001412254.1  glycogen debranching enzyme isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC096949
      UniProtKB/Swiss-Prot
      A6NCX7, A6NEK2, D3DT51, P35573, P78354, P78544, Q59H92, Q6AZ90, Q9UF08
      UniProtKB/TrEMBL
      A0A0M4G3H8, A0A0S2A4E4
      Related
      ENST00000637337.1

    7. NM_001425326.1 → NP_001412255.1  glycogen debranching enzyme isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC096949
      UniProtKB/TrEMBL
      A0A0M4G3H8

    8. NM_001425327.1 → NP_001412256.1  glycogen debranching enzyme isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC096949
      UniProtKB/TrEMBL
      A0A0M4G3H8

    9. NM_001425328.1 → NP_001412257.1  glycogen debranching enzyme isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC096949
      UniProtKB/TrEMBL
      A0A0M4G3H8

    10. NM_001425329.1 → NP_001412258.1  glycogen debranching enzyme isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC096949
      UniProtKB/TrEMBL
      A0A0M4G3H8

    11. NM_001425332.1 → NP_001412261.1  glycogen debranching enzyme isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC096949
      UniProtKB/TrEMBL
      A0A0M4G3H8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      99849258..99924023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270557.3 → XP_005270614.1  glycogen debranching enzyme isoform X1

      See identical proteins and their annotated locations for XP_005270614.1

      UniProtKB/Swiss-Prot
      A6NCX7, A6NEK2, D3DT51, P35573, P78354, P78544, Q59H92, Q6AZ90, Q9UF08
      UniProtKB/TrEMBL
      A0A0M4G3H8, A0A0S2A4E4
      Conserved Domains (1) summary
      TIGR01531
      Location:22 → 1532
      glyc_debranch; glycogen debranching enzymye

    2. XM_017000501.3 → XP_016855990.1  glycogen debranching enzyme isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      99697491..99772284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334796.1 → XP_054190771.1  glycogen debranching enzyme isoform X1

      UniProtKB/Swiss-Prot
      A6NCX7, A6NEK2, D3DT51, P35573, P78354, P78544, Q59H92, Q6AZ90, Q9UF08
      UniProtKB/TrEMBL
      A0A0M4G3H8, A0A0S2A4E4

    2. XM_054334797.1 → XP_054190772.1  glycogen debranching enzyme isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_000645.2: Suppressed sequence

      Description
      NM_000645.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35573.3 GenPept UniProtKB/Swiss-Prot:P35573

    Gene LinkOut

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