About   Help   FAQ
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
  • Alliance
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: HomoloGene, HGNC
  • Synonyms
    GDE
  • Links
    NCBI Gene ID: 178
    neXtProt AC: NX_P35573
    UniProt: P35573

  • Chr Location
    1p21.2; chr1:99850077-99924023 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 536
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • 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
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    28 phenotypes from 3 alleles in 3 genetic backgrounds
    14 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • 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
      IPR017853 Glycoside hydrolase superfamily
      IPR008928 Six-hairpin glycosidase superfamily
    Molecular
    Reagents
    less
    • All nucleic 65
      Genomic 2
      cDNA 61
      Primer pair 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1916080, MGI:2139821, MGI:2140047, MGI:2442716
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 8
      Diseases 3
      Gene Ontology 6
      Phenotypes 14
    • 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:257265 Zhang Z, et al., Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing. Sci Rep. 2017 Nov 1;7(1):14796

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory