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

Gene ID: 178, updated on 7-Apr-2024

Summary

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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; 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
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Genomic context

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Location:
1p21.2
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (99849258..99924023)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (99697491..99772284)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100315917..100389579)

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. 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
  2. Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients. Abdullah IS, et al. Genes Genomics, 2019 Aug. PMID 31028654
  3. Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3. Nazari F, et al. J Clin Neuromuscul Dis, 2018 Jun. PMID 29794575
  4. Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. Lu C, et al. J Hum Genet, 2016 Jul. PMID 26984562
  5. [Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa]. Guo L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2015 Aug. PMID 26252094

See all (97) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
Compare labs

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)

Genotypes

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 beta-maltose 4-alpha-glucanotransferase activity IEA
Inferred from Electronic Annotation
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-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
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
    A0A0S2A4E4

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

    Status: REVIEWED

    Source sequence(s)
    AC096949

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

    Status: REVIEWED

    Source sequence(s)
    AC096949

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

    Status: REVIEWED

    Source sequence(s)
    AC096949

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

    Status: REVIEWED

    Source sequence(s)
    AC096949

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

    Status: REVIEWED

    Source sequence(s)
    AC096949

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    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

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