U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Gbe1 1,4-alpha-glucan branching enzyme 1 [ Mus musculus (house mouse) ]

Gene ID: 74185, updated on 1-Mar-2024

Summary

Official Symbol
Gbe1provided by MGI
Official Full Name
1,4-alpha-glucan branching enzyme 1provided by MGI
Primary source
MGI:MGI:1921435
See related
Ensembl:ENSMUSG00000022707 AllianceGenome:MGI:1921435
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
D16Ertd536e; 2310045H19Rik; 2810426P10Rik
Summary
Predicted to enable 1,4-alpha-glucan branching enzyme activity. Predicted to be involved in glycogen biosynthetic process. Predicted to be active in cytoplasm. Is expressed in eye; liver; nervous system; and skeletal muscle. Used to study glycogen storage disease IV. Human ortholog(s) of this gene implicated in glycogen storage disease IV and pulmonary tuberculosis. Orthologous to human GBE1 (1,4-alpha-glucan branching enzyme 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in liver E18 (RPKM 14.7), adrenal adult (RPKM 14.5) and 27 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Gbe1 in Genome Data Viewer
Location:
16 C2; 16 40.19 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (70110837..70366608)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (70313949..70569720)

Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene proteasome (prosome, macropain) 26S subunit, ATPase 3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_41204 Neighboring gene predicted gene, 36766 Neighboring gene STARR-positive B cell enhancer mm9_chr16:70568791-70569092 Neighboring gene STARR-seq mESC enhancer starr_41205 Neighboring gene DNA segment, Chr 16, ERATO Doi 519, expressed Neighboring gene predicted gene, 19291

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 1,4-alpha-glucan branching enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables 1,4-alpha-glucan branching enzyme activity ISO
Inferred from Sequence Orthology
more info
 
enables 1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis) IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables carbohydrate binding ISO
Inferred from Sequence Orthology
more info
 
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables cation binding IEA
Inferred from Electronic Annotation
more info
 
enables glycosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity, hydrolyzing O-glycosyl compounds IEA
Inferred from Electronic Annotation
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in glycogen biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in glycogen biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glycogen biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
1,4-alpha-glucan-branching enzyme
Names
brancher enzyme
glucan (1,4-alpha-), branching enzyme 1
glycogen-branching enzyme
NP_083079.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_028803.4NP_083079.1  1,4-alpha-glucan-branching enzyme

    See identical proteins and their annotated locations for NP_083079.1

    Status: VALIDATED

    Source sequence(s)
    AC154304, AC167563, AI182082, AK050365
    UniProtKB/Swiss-Prot
    Q9D6Y9
    UniProtKB/TrEMBL
    F6ZHD8
    Related
    ENSMUSP00000132603.2, ENSMUST00000163832.8
    Conserved Domains (4) summary
    cd02854
    Location:83178
    E_set_GBE_euk_N; N-terminal Early set domain associated with the catalytic domain of eukaryotic glycogen branching enzyme (also called 1,4 alpha glucan branching enzyme)
    cd11321
    Location:180585
    AmyAc_bac_euk_BE; Alpha amylase catalytic domain found in bacterial and eukaryotic branching enzymes
    COG0296
    Location:73695
    GlgB; 1,4-alpha-glucan branching enzyme [Carbohydrate transport and metabolism]
    pfam02806
    Location:603698
    Alpha-amylase_C; Alpha amylase, C-terminal all-beta domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    70110837..70366608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)