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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
Location & Maps
more
  • Sequence Map
    Chr16:70313949-70569716 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      255768 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 40.19 cM, cytoband C2
  • Mapping Data
    4 experiments
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

  • Chr Location
    3p12.3; chr3:81489699-81761799 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Gbe1 mouse models; 2 with human GBE1 associations

Human Disease Mouse Models
       Glycogen Storage Disease IV; GSD4   OMIM: 232500 View 4 models
       Polyglucosan Body Neuropathy, Adult Form; APBN   OMIM: 263570
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
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  • 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
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
    6
  • Chemically induced (ENU)
    1
  • Targeted
    5
  • Incidental Mutations
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
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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
less
Sequences &
Gene Models
less
  • All Sequences
  • RefSeq
  • UniProt
  • UniGene
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036833 VEGA Gene Model | MGI Sequence Detail 255768 C57BL/6J ±  kb
transcript OTTMUST00000094572 VEGA | MGI Sequence Detail 2984 Not Applicable  
polypeptide OTTMUSP00000052634 VEGA | MGI Sequence Detail 702 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    3460 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000007871 1,4-alpha-glucan-branching enzyme
  • EC
  • InterPro Domains
    IPR006407 1,4-alpha-glucan-branching enzyme, GlgB
    IPR006048 Alpha-amylase/branching enzyme, C-terminal all beta
    IPR013781 Glycoside hydrolase, catalytic domain
    IPR015902 Glycoside hydrolase, family 13
    IPR004193 Glycoside hydrolase, family 13, N-terminal
    IPR017853 Glycoside hydrolase superfamily
    IPR013780 Glycosyl hydrolase, all-beta
    IPR006047 Glycosyl hydrolase, family 13, catalytic domain
    IPR014756 Immunoglobulin E-set
    IPR013783 Immunoglobulin-like fold
Molecular
Reagents
less
  • All nucleic 71
    cDNA 69
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
less
MGI:1261846, MGI:1919988
References
more
  • Summaries
    All 39
    Developmental Gene Expression 5
    Diseases 3
    Gene Ontology 4
    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:226481 Orhan Akman H, et al., A novel mouse model that recapitulates adult-onset glycogenosis type 4. Hum Mol Genet. 2015 Dec 1;24(23):6801-10

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory