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Agl Gene Detail
Summary
  • Symbol
    Agl
  • Name
    amylo-1,6-glucosidase, 4-alpha-glucanotransferase
  • Synonyms
    1110061O17Rik, 9430004C13Rik, 9630046L06Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924809
    NCBI Gene: 77559
  • Gene Overview
    MyGene.info: AGL
Location & Maps
more
  • Sequence Map
    Chr3:116742507-116808129 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      65623 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 50.47 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    AGL, amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    AGL, amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    GDE
  • Links
    NCBI Gene ID: 178
    neXtProt AC: NX_P35573

  • Chr Location
    1p21; chr1:99850077-99924023 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 536
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: AGL
  • Gene Tree
    Agl
Human Diseases
more
  • Diseases
    1 with Agl mouse models; 1 with human AGL associations

Human Disease Mouse Models
       Glycogen Storage Disease III; GSD3   OMIM: 232400 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 3 alleles in 3 genetic backgrounds
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving Agl
  • Incidental Mutations
Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034170 VEGA Gene Model | MGI Sequence Detail 65623 C57BL/6J ±  kb
transcript OTTMUST00000086645 VEGA | MGI Sequence Detail 6978 Not Applicable  
polypeptide OTTMUSP00000046917 VEGA | MGI Sequence Detail 1532 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    497 from dbSNP Build 142
Protein
Information
less
  • UniProt
    7 Sequences
  • InterPro Domains
    IPR029436 Eukaryotic glycogen debranching enzyme, N-terminal domain
    IPR010401 Glycogen debranching enzyme
    IPR032788 Glycogen debranching enzyme, central domain
    IPR032790 Glycogen debranching enzyme, C-terminal
    IPR032792 Glycogen debranching enzyme, glucanotransferase domain
    IPR006421 Glycogen debranching enzyme, metazoa
    IPR013781 Glycoside hydrolase, catalytic domain
    IPR017853 Glycoside hydrolase superfamily
    IPR008928 Six-hairpin glycosidase-like
Molecular
Reagents
less
  • All nucleic 64
    Genomic 1
    cDNA 61
    Primer pair 1
    Other 1

    Microarray probesets 7
Other
Accession IDs
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MGI:1916080, MGI:2139821, MGI:2140047, MGI:2442716
References
more
  • Summaries
    All 41
    Developmental Gene Expression 6
    Diseases 2
    Gene Ontology 6
    Phenotypes 12
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:228563 Koscielny G, et al., The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory