Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 178, updated on 8-Jul-2021

    Summary

    Official Symbol
    AGLprovided by HGNC
    Official Full Name
    amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:321
    See related
    Ensembl:ENSG00000162688 MIM:610860
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AGL in Genome Data Viewer
    Location:
    1p21.2
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (99850077..99924023)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100315917..100389579)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U4 small nuclear 75, pseudogene Neighboring gene ribosomal protein L39 pseudogene 9 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study of lung function decline in adults with and without asthma.
    GeneReviews: Not available
    Glycogen storage disease type III Compare labs
    White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    PubMed 
    enables beta-maltose 4-alpha-glucanotransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables glycogen debranching enzyme activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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
    PubMed 
    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

    Preferred Names
    glycogen debranching enzyme
    Names
    amylo-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
    XP_005270614.1
    XP_016855990.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000028.2NP_000019.2  glycogen debranching enzyme isoform 1

      See identical proteins and their annotated locations for NP_000019.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (1). Variants 1, 2, 3 and 4 encode the same isoform (isoform 1).
      Source sequence(s)
      AC096949, U84010
      Consensus CDS
      CCDS759.1
      UniProtKB/Swiss-Prot
      P35573
      UniProtKB/TrEMBL
      A0A0S2A4E4
      Related
      ENSP00000294724.4, ENST00000294724.8
      Conserved Domains (1) summary
      TIGR01531
      Location:221532
      glyc_debranch; glycogen debranching enzymye
    2. NM_000642.3NP_000633.2  glycogen debranching enzyme isoform 1

      See identical proteins and their annotated locations for NP_000633.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 4. Variants 1, 2, 3 and 4 encode the same isoform (isoform 1).
      Source sequence(s)
      AC096949, AK130308, BC078663, U84007
      Consensus CDS
      CCDS759.1
      UniProtKB/Swiss-Prot
      P35573
      UniProtKB/TrEMBL
      A0A0S2A4E4
      Related
      ENSP00000355106.3, ENST00000361915.8
      Conserved Domains (1) summary
      TIGR01531
      Location:221532
      glyc_debranch; glycogen debranching enzymye
    3. NM_000643.2NP_000634.2  glycogen debranching enzyme isoform 1

      See identical proteins and their annotated locations for NP_000634.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 4. Variants 1, 2, 3 and 4 encode the same isoform (isoform 1).
      Source sequence(s)
      AC096949, U84009
      Consensus CDS
      CCDS759.1
      UniProtKB/Swiss-Prot
      P35573
      UniProtKB/TrEMBL
      A0A0S2A4E4
      Related
      ENSP00000359182.3, ENST00000370163.7
      Conserved Domains (1) summary
      TIGR01531
      Location:221532
      glyc_debranch; glycogen debranching enzymye
    4. NM_000644.2NP_000635.2  glycogen debranching enzyme isoform 1

      See identical proteins and their annotated locations for NP_000635.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 4. Variants 1, 2, 3 and 4 encode the same isoform (isoform 1).
      Source sequence(s)
      AC096949, U84008
      Consensus CDS
      CCDS759.1
      UniProtKB/Swiss-Prot
      P35573
      UniProtKB/TrEMBL
      A0A0S2A4E4
      Related
      ENSP00000359184.3, ENST00000370165.7
      Conserved Domains (1) summary
      TIGR01531
      Location:221532
      glyc_debranch; glycogen debranching enzymye
    5. NM_000646.2NP_000637.2  glycogen debranching enzyme isoform 3

      See identical proteins and their annotated locations for NP_000637.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding region, compared to variant 4. The resulting protein (isoform 3) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC096949, U84011
      Consensus CDS
      CCDS760.1
      UniProtKB/Swiss-Prot
      P35573
      Related
      ENSP00000359180.2, ENST00000370161.6
      Conserved Domains (5) summary
      cd11327
      Location:89567
      AmyAc_Glg_debranch_2; Alpha amylase catalytic domain found in glycogen debranching enzymes
      TIGR01531
      Location:111516
      glyc_debranch; glycogen debranching enzymye
      pfam06202
      Location:10261511
      GDE_C; Amylo-alpha-1,6-glucosidase
      pfam14699
      Location:15100
      hGDE_N; N-terminal domain from the human glycogen debranching enzyme
      pfam14702
      Location:681958
      hGDE_central; central domain of human glycogen debranching enzyme

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      99850077..99924023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270557.2XP_005270614.1  glycogen debranching enzyme isoform X1

      See identical proteins and their annotated locations for XP_005270614.1

      UniProtKB/Swiss-Prot
      P35573
      UniProtKB/TrEMBL
      A0A0S2A4E4
      Related
      ENST00000637337.1
      Conserved Domains (1) summary
      TIGR01531
      Location:221532
      glyc_debranch; glycogen debranching enzymye
    2. XM_017000501.2XP_016855990.1  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.
    Support Center