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Gbe1
Gene Detail
 Symbol
Name
ID
Gbe1
glucan (1,4-alpha-), branching enzyme 1
MGI:1921435
Synonyms 2310045H19Rik, 2810426P10Rik, D16Ertd536e
Feature Type protein coding gene
Genetic Map
Chromosome 16
40.19 cM, cytoband C2
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr16:70313949-70569716 bp, + strand
From VEGA annotation of GRCm38

  255768 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:129  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Protein SuperFamily: 1,4-alpha-glucan branching enzyme
Gene Tree: Gbe1

Human
homologs
Human Homolog GBE1, glucan (1,4-alpha-), branching enzyme 1
NCBI Gene ID 2632
neXtProt AC  NX_Q04446
Human Synonyms  APBD, GBE, GSD4
Human Chr (Location)  3p12.3; chr3:81489699-81761799 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human GBE1
Alleles
and
phenotypes
All alleles(4) : Chemically induced (ENU)(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Gbe1 (1)    Alleles Annotated to Human Diseases(3)   
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Process carbohydrate metabolic process, glycogen biosynthetic process
Component extracellular vesicular exosome
Function 1,4-alpha-glucan branching enzyme activity, carbohydrate binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (100)    Tissues (95)    Images (3)
Theiler Stages: 22, 28
Assay TypeResults
RNA in situ 94
RT-PCR 6
cDNA source data(67)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(71) cDNA(69) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000036833 (Evidence)
Ensembl Gene ModelENSMUSG00000022707 (Evidence)
Entrez Gene74185 (Evidence)
UniGene396102
DFCITC1576514
DoTSDT.492392, DT.101380558, DT.94163753
NIA Mouse Gene IndexU017263
EC2.4.1.18
International Mouse Knockout Project StatusGbe1
Sequences
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 sequences
All sequences(43) RefSeq(2) UniProt(3)
Polymorphisms SNPs within 2kb(3491 from dbSNP Build 137)    SNPs within 2kb including multiple locations(3493)
Protein-related
information
ResourceIDDescription
InterPro IPR006407 1,4-alpha-glucan-branching enzyme
InterPro IPR006048 Alpha-amylase, C-terminal all beta
InterPro IPR013781 Glycoside hydrolase, catalytic domain
InterPro IPR015902 Glycoside hydrolase, family 13
InterPro IPR004193 Glycoside hydrolase, family 13, N-terminal
InterPro IPR017853 Glycoside hydrolase, superfamily
InterPro IPR013780 Glycosyl hydrolase, family 13, all-beta
InterPro IPR006047 Glycosyl hydrolase, family 13, catalytic domain
InterPro IPR014756 Immunoglobulin E-set
InterPro IPR013783 Immunoglobulin-like fold
Protein Ontology PR:000007871 1,4-alpha-glucan-branching enzyme
References (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:176889 Akman HO, et al., Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV. Hum Mol Genet. 2011 Nov 15;20(22):4430-9
All references(43)
Other
accession IDs
MGI:1261846, MGI:1919988

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
07/15/2014
MGI 5.18
The Jackson Laboratory