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Gbe1 Gene Detail
Summary
  • Symbol
    Gbe1
  • Name
    1,4-alpha-glucan branching enzyme 1
  • Synonyms
    2310045H19Rik, 2810426P10Rik, D16Ertd536e
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921435
    NCBI Gene: 74185
  • Alliance
    genome feature page
  • Transcription Start Sites
    22 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:70110837-70366604 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 40.19 cM, cytoband C2
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8223 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921435
 protein coding gene Chr16:70110837-70366608 (+)
129S1/SvImJ ENSMUSG00200008272
 protein coding gene Chr16:66998097-67247718 (+)
A/J ENSMUSG00195001577
 protein coding gene Chr16:66714862-66964456 (+)
AKR/J ENSMUSG00220005321
 protein coding gene Chr16:67013375-67263069 (+)
BALB/cJ ENSMUSG00180001570
 protein coding gene Chr16:66853867-67103460 (+)
C3H/HeJ ENSMUSG00175004387
 protein coding gene Chr16:67125499-67375099 (+)
C57BL/6NJ ENSMUSG00215012859
 protein coding gene Chr16:66953409-67209331 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020870
 protein coding gene Chr16:65840126-66072499 (+)
CAST/EiJ ENSTCUG00005012606
 protein coding gene Chr16:66970640-67210569 (+)
CBA/J ENSMUSG00210015076
 protein coding gene Chr16:67100988-67337812 (+)
DBA/2J ENSMUSG00185004519
 protein coding gene Chr16:67018758-67268339 (+)
FVB/NJ no annotation
JF1/MsJ ENSUMUG00000013337
 protein coding gene Chr16:67253327-67490166 (+)
LP/J ENSMUSG00230006853
 protein coding gene Chr16:69584138-69833717 (+)
NOD/ShiLtJ ENSMUSG00190015949
 protein coding gene Chr16:67053576-67302729 (+)
NZO/HlLtJ ENSMUSG00225029359
 protein coding gene Chr16:72820055-73069625 (+)
PWK/PhJ ENSLUMG00010011356
 protein coding gene Chr16:66926462-67155257 (+)
SPRET/EiJ ENSMSPG00010002051
 protein coding gene Chr16:67604565-67849011 (+)
WSB/EiJ ENSIUOG00005002306
 protein coding gene Chr16:67136416-67386583 (+)



Homology
more
  • Human Ortholog
    GBE1, 1,4-alpha-glucan branching enzyme 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GBE1, 1,4-alpha-glucan branching enzyme 1
  • Synonyms
    APBD, GBE, GSD4
  • Links
    NCBI Gene ID: 2632
    UniProt: Q04446

  • Chr Location
    3p12.2; chr3:81489699-81761781 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gbe1 mouse models; 2 with human GBE1 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    37 phenotypes from 5 alleles in 2 genetic backgrounds
    18 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.
Mice homozygous for an ENU-induced allele exhibit mid-to-late gestation lethality, decreased heart rate, glycogen storage defects, and ventricles that were small, hypertrabeculated, and noncompacted.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    12
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    717
  • Tissues
    103
  • cDNA Data
    68
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    • All Sequences
      45
    • RefSeq
      2
    • UniProt
      2
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022707 Ensembl Gene Model | MGI Sequence Detail 255768 C57BL/6J ±  kb
    transcript ENSMUST00000163832 Ensembl | MGI Sequence Detail 2984 Not Applicable  
    polypeptide ENSMUSP00000132603 Ensembl | MGI Sequence Detail 702 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 74
      cDNA 70
      Primer pair 4
      Antibodies 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1261846, MGI:1919988
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 10
      Diseases 3
      Gene Ontology 12
      Phenotypes 18
    • 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:362116 Nitschke S, et al., Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease. EMBO J. 2025 Mar;44(5):1379-1413
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory