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

Gene ID: 74185, updated on 27-Nov-2024

Summary

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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
Enables 1,4-alpha-glucan branching enzyme activity. Involved in glycogen biosynthetic process. Is active in cytosol. Is expressed in eye; heart; 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, Nov 2024]
Expression
Broad expression in liver E18 (RPKM 14.7), adrenal adult (RPKM 14.5) and 27 other tissues See more
Orthologs
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency. Malinska D, et al. Biochimie, 2021 Jul. PMID 33857563
  2. Hallmarks of oxidative stress in the livers of aged mice with mild glycogen branching enzyme deficiency. Malinska D, et al. Arch Biochem Biophys, 2020 Nov 30. PMID 33049291
  3. A novel mouse model that recapitulates adult-onset glycogenosis type 4. Orhan Akman H, et al. Hum Mol Genet, 2015 Dec 1. PMID 26385640, Free PMC Article
  4. Guaiacol as a drug candidate for treating adult polyglucosan body disease. Kakhlon O, et al. JCI Insight, 2018 Sep 6. PMID 30185673, Free PMC Article
  5. Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV. Akman HO, et al. Hum Mol Genet, 2011 Nov 15. PMID 21856731, Free PMC Article

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency.
    Title: Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency.
  2. Hallmarks of oxidative stress in the livers of aged mice with mild glycogen branching enzyme deficiency.
    Title: Hallmarks of oxidative stress in the livers of aged mice with mild glycogen branching enzyme deficiency.
  3. results reveal that early molecular events associated with Gbe1 deficiency contribute to abnormal cardiac development and fetal hydrops in the fetal form of glycogen storage disease type IV
    Title: Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.
  4. GYS1 regulation by HIF plays a central role in the hypoxic accumulation of glycogen, and hypoxia also upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1)
    Title: Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables 1,4-alpha-glucan branching enzyme activity ISO
Inferred from Sequence Orthology
more info
  
enables 1,4-alpha-glucan branching enzyme activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables carbohydrate binding ISO
Inferred from Sequence Orthology
more info
  
enables cation binding IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity, hydrolyzing O-glycosyl compounds IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in glycogen biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glycogen biosynthetic process IEA
Inferred from Electronic Annotation
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 glycogen biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
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

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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)

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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_028803.4 → NP_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
    G3UW30
    Related
    ENSMUSP00000132603.2, ENSMUST00000163832.8
    Conserved Domains (4) summary
    cd02854
    Location:83 → 178
    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:180 → 585
    AmyAc_bac_euk_BE; Alpha amylase catalytic domain found in bacterial and eukaryotic branching enzymes
    COG0296
    Location:73 → 695
    GlgB; 1,4-alpha-glucan branching enzyme [Carbohydrate transport and metabolism]
    pfam02806
    Location:603 → 698
    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)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9D6Y9.1 GenPept UniProtKB/Swiss-Prot:Q9D6Y9

Gene LinkOut

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