Gbe1 MGI Mouse Gene Detail - MGI:1921435 - 1,4-alpha-glucan branching enzyme 1

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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
  • 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
  • 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 MGP_129S1SvImJ_G0022949
protein coding gene Chr16:70128864-70394869 (+)
A/J MGP_AJ_G0022917
protein coding gene Chr16:67058415-67302897 (+)
AKR/J MGP_AKRJ_G0022887
protein coding gene Chr16:69111529-69365374 (+)
BALB/cJ MGP_BALBcJ_G0022919
protein coding gene Chr16:67353992-67599626 (+)
C3H/HeJ MGP_C3HHeJ_G0022681
protein coding gene Chr16:69545536-69801507 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023367
protein coding gene Chr16:72312458-72594969 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020870
protein coding gene Chr16:65840126-66072499 (+)
CAST/EiJ MGP_CASTEiJ_G0022204
protein coding gene Chr16:69853968-70175281 (+)
CBA/J MGP_CBAJ_G0022651
protein coding gene Chr16:75437822-75710694 (+)
DBA/2J MGP_DBA2J_G0022784
protein coding gene Chr16:66862835-67109020 (+)
FVB/NJ MGP_FVBNJ_G0022759
protein coding gene Chr16:66345509-66588079 (+)
LP/J MGP_LPJ_G0022854
protein coding gene Chr16:69936818-70218191 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022777
protein coding gene Chr16:77694733-77986237 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023384
protein coding gene Chr16:69367651-69621844 (+)
PWK/PhJ MGP_PWKPhJ_G0021946
protein coding gene Chr16:67140318-67444357 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021776
protein coding gene Chr16:68967849-69232764 (+)
WSB/EiJ MGP_WSBEiJ_G0022251
protein coding gene Chr16:69463490-69730922 (+)



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; chr3:81489703-81761645 (-) GRCh38
Human Diseases
more
  • Diseases
    1 with Gbe1 mouse models; 2 with human GBE1 associations

Human Disease Mouse Models
IDs
glycogen storage disease IV

DOID:2750
ICD10CM:E74.09
MESH:D006011
NCI:C84737
OMIM:232500
UMLS_CUI:C0017923

 View 4 models
Mouse Models

Human Disease Modeled: glycogen storage disease IV

Allelic Composition Genetic Background Reference Phenotypes
Gbe1m1Yty/Gbe1m1Yty
C3HeB/FeJ-Gbe1m1Yty J:167233 View
Gbe1tm1Hoa/Gbe1tm1Hoa
involves: 129S7/SvEvBrd J:176889 View
Gbe1tm1.1Hoa/Gbe1tm1.1Hoa
involves: 129S7/SvEvBrd J:176889 View
Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
involves: 129S7/SvEvBrd J:226481 View
IDs
pulmonary tuberculosis

DOID:2957
ICD10CM:A15
ICD9CM:011
ICD9CM:011.9
ICD9CM:011.90
MESH:D014397
NCI:C26899
UMLS_CUI:C0041327
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
    17 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
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
  • 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 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

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
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
    • Sequences &
    Gene Models
    less
    • All Sequences
    • 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

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1261846, MGI:1919988
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 10
      Diseases 3
      Gene Ontology 13
      Phenotypes 17
    • 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
    TSS for Gbe1:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr138939 Chr16:70110855-70110864 (+) 23 bp
    Tssr138940 Chr16:70110886-70110891 (+) 52 bp
    Tssr138941 Chr16:70110899-70110904 (+) 65 bp
    Tssr138942 Chr16:70110945-70110959 (+) 115 bp
    Tssr138943 Chr16:70110979-70110984 (+) 145 bp
    Tssr138944 Chr16:70111007-70111037 (+) 185 bp
    Tssr138945 Chr16:70111365-70111386 (+) 539 bp
    Tssr138946 Chr16:70111555-70111568 (+) 725 bp
    Tssr138947 Chr16:70112636-70112649 (+) 1,806 bp
    Tssr138948 Chr16:70118060-70118071 (+) 7,229 bp
    Tssr138949 Chr16:70118147-70118176 (+) 7,325 bp
    Tssr138951 Chr16:70197599-70197618 (+) 86,772 bp
    Tssr138952 Chr16:70198670-70198686 (+) 87,841 bp
    Tssr138953 Chr16:70199666-70199669 (+) 88,831 bp
    Tssr138954 Chr16:70204742-70204750 (+) 93,909 bp
    Tssr138955 Chr16:70205340-70205345 (+) 94,506 bp
    Tssr138956 Chr16:70206742-70206746 (+) 95,907 bp
    Tssr138957 Chr16:70214495-70214500 (+) 103,661 bp
    Tssr138958 Chr16:70234569-70234573 (+) 123,734 bp
    Tssr138959 Chr16:70296277-70296288 (+) 185,446 bp
    Tssr138960 Chr16:70301223-70301239 (+) 190,394 bp
    Tssr138961 Chr16:70301296-70301308 (+) 190,465 bp
    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
    10/07/2025
    MGI 6.24 The Jackson Laboratory
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