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

Gene ID: 178, updated on 4-Jan-2025

Summary

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
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Genomic context

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in glycogen biosynthetic process  
involved_in glycogen catabolic process  
involved_in glycogen catabolic process  
involved_in response to glucocorticoid  
involved_in response to nutrient  
Component Evidence Code Pubs
located_in cytoplasm PubMed 
located_in cytosol  
located_in extracellular region  
located_in ficolin-1-rich granule lumen  
located_in inclusion body  
part_of isoamylase complex PubMed 
located_in nucleus  
located_in sarcoplasmic reticulum  
located_in secretory granule lumen  

General protein information

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_000028.3NP_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: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

    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:221532
    glyc_debranch; glycogen debranching enzymye
  3. NM_000643.3NP_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:221532
    glyc_debranch; glycogen debranching enzymye
  4. NM_000644.3NP_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:221532
    glyc_debranch; glycogen debranching enzymye
  5. NM_000646.3NP_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: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
  6. NM_001425325.1NP_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_001425326.1NP_001412255.1  glycogen debranching enzyme isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC096949
    UniProtKB/TrEMBL
    A0A0M4G3H8
  8. NM_001425327.1NP_001412256.1  glycogen debranching enzyme isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC096949
    UniProtKB/TrEMBL
    A0A0M4G3H8
  9. NM_001425328.1NP_001412257.1  glycogen debranching enzyme isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC096949
    UniProtKB/TrEMBL
    A0A0M4G3H8
  10. NM_001425329.1NP_001412258.1  glycogen debranching enzyme isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC096949
    UniProtKB/TrEMBL
    A0A0M4G3H8
  11. NM_001425332.1NP_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_005270557.3XP_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:221532
    glyc_debranch; glycogen debranching enzymye
  2. XM_017000501.3XP_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_054334796.1XP_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_054334797.1XP_054190772.1  glycogen debranching enzyme isoform X2

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