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

    Gene ID: 74185, updated on 12-May-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
    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
    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. 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
    4. 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
    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 (35) 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 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

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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
      F6ZHD8
      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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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