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Gbe1 Gene Detail
Summary
  • Symbol
    Gbe1
  • Name
    glucan (1,4-alpha-), branching enzyme 1
  • Synonyms
    2310045H19Rik, 2810426P10Rik, D16Ertd536e
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921435
    NCBI Gene: 74185
  • Gene Overview
    MyGene.info: GBE1
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:70313949-70569716 bp, + strand
  • From Ensembl annotation of GRCm38

    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
    3460 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 Chr16:70313949-70569720 (.)
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
    11
  • Human Ortholog
    GBE1, 1,4-alpha-glucan branching enzyme 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    APBD, GBE, GSD4
  • Links
    NCBI Gene ID: 2632
    neXtProt AC: NX_Q04446
    UniProt: Q04446

  • Chr Location
    3p12.2; chr3:81489699-81761799 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Gbe1 mouse models; 1 with human GBE1 associations

Human Disease Mouse Models
      
IDs
View 4 models
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
    7 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.
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 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
    • All Sequences
    • RefSeq
    • UniProt
    • UniGene
    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 73
      cDNA 70
      Primer pair 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1261846, MGI:1919988
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 7
      Diseases 3
      Gene Ontology 6
      Phenotypes 7
    • 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:236398 Tunster SJ, et al., Increased dosage of the imprinted Ascl2 gene restrains two key endocrine lineages of the mouse Placenta. Dev Biol. 2016 Oct 1;418(1):55-65

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory