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

    Gene ID: 74185, updated on 9-Dec-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
    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, Dec 2024]
    Expression
    Broad expression in liver E18 (RPKM 14.7), adrenal adult (RPKM 14.5) and 27 other tissues See more
    Orthologs
    NEW
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    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 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

    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
      G3UW30
      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)