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

Gene ID: 178, updated on 8-Jul-2018
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; Vega:OTTHUMG00000010803
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
See AGL in Genome Data Viewer
Location:
1p21.2
Exon count:
36
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (99850077..99924023)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100315633..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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Glycogen storage disease type III Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of lung function decline in adults with and without asthma.
NHGRI GWA Catalog
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
NHGRI GWA Catalog
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycogen Metabolism, organism-specific biosystem (from WikiPathways)
    Glycogen Metabolism, organism-specific biosystemGlycogen is a very large, branched polymer of glucose residues. Within skeletal muscle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to maint...
  • Glycogen breakdown (glycogenolysis), organism-specific biosystem (from REACTOME)
    Glycogen breakdown (glycogenolysis), organism-specific biosystemCytosolic glycogen breakdown occurs via the same chemical steps in all tissues but is separately regulated via tissue specific isozymes and signaling pathways that enable distinct physiological fates...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
    Starch and sucrose metabolism, organism-specific biosystem
    Starch and sucrose metabolism
  • Starch and sucrose metabolism, conserved biosystem (from KEGG)
    Starch and sucrose metabolism, conserved biosystem
    Starch and sucrose metabolism
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

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

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
    5001..78940
    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, OTTHUMP00000012503, ENST00000294724.8, OTTHUMT00000029778
    Conserved Domains (1) summary
    TIGR01531
    Location:221532
    glyc_debranch; glycogen debranching enzymye
  2. NM_000642.2NP_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, C00487, U84007
    Consensus CDS
    CCDS759.1
    UniProtKB/Swiss-Prot
    P35573
    UniProtKB/TrEMBL
    A0A0S2A4E4
    Related
    ENSP00000355106.3, OTTHUMP00000012500, ENST00000361915.7, OTTHUMT00000029775
    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, OTTHUMP00000012502, ENST00000370163.7, OTTHUMT00000029777
    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, OTTHUMP00000012501, ENST00000370165.7, OTTHUMT00000029776
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 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
    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.
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