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 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; chr3:81538850-81810950 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human GBE1

Alleles and phenotypes

All alleles(4) : Targeted(3) Chemically induced(1)
 

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: (9 annotations)

Process	carbohydrate metabolic process, glycogen biosynthetic process
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 Type	Results
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 Model	OTTMUSG00000036833 (Evidence)
Ensembl Gene Model	ENSMUSG00000022707 (Evidence)
Entrez Gene	74185 (Evidence)
UniGene	396102
DFCI	TC1576514
DoTS	DT.101380558, DT.492392, DT.94163753
NIA Mouse Gene Index	U017263
EC	2.4.1.18
International Mouse Knockout Project Status	Gbe1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000036833	VEGA Gene Model | MGI Sequence Detail	255768	C57BL/6J
transcript	OTTMUST00000094572	VEGA | MGI Sequence Detail	2984	Not Applicable
polypeptide	OTTMUSP00000052634	VEGA | MGI Sequence Detail	702	Not Applicable

All sequences(43) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(1450 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(42)

Other accession IDs

MGI:1261846, MGI:1919988