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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; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: GBE1
Protein SuperFamily: 1,4-alpha-glucan branching enzyme
Gene Tree: Gbe1

Human
homologs
GBE1, glucan (1,4-alpha-), branching enzyme 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2632
neXtProt AC: NX_Q04446

Human Synonyms: APBD, GBE, GSD4

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

Disease Associations: (2) Diseases Associated with Human GBE1

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Chemically induced (ENU)(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Gbe1 (1)    Mutations Annotated to Human Diseases (3)   
Interactions
Gbe1 interacts with 185 markers (Mir7-1, Mir10a, Mir10b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (5 records)
Data Summary: Results (100)    Tissues (95)    Images (3)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
RT-PCR 6
cDNA source data(67)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase gbe1    NEW 
Molecular
reagents
All nucleic(71) cDNA(69) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000036833 (Evidence)
Ensembl Gene Model ENSMUSG00000022707 (Evidence)
Entrez Gene 74185 (Evidence)
UniGene 396102
DFCI TC1576514
DoTS DT.94163753, DT.492392, DT.101380558
NIA Mouse Gene Index U017263
EC 2.4.1.18
International Mouse Phenotyping Consortium Status Gbe1
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(44) 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(41)
Disease annotation references (2)
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
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory