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    Gbe1 1,4-alpha-glucan branching enzyme 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 288333, updated on 10-Jul-2024

    Summary

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    Official Symbol
    Gbe1provided by RGD
    Official Full Name
    1,4-alpha-glucan branching enzyme 1provided by RGD
    Primary source
    RGD:1309968
    See related
    EnsemblRapid:ENSRNOG00000051232 AllianceGenome:RGD:1309968
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables 1,4-alpha-glucan branching enzyme activity and carbohydrate binding activity. Involved in glycogen biosynthetic process and negative regulation of neuron apoptotic process. Located in cytoplasm. 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
    Biased expression in Liver (RPKM 852.6), Muscle (RPKM 358.9) and 8 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Gbe1 in Genome Data Viewer
    Location:
    11p11
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 11 NC_086029.1 (22181194..22446640)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 11 NC_051346.1 (8734806..9000226)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 11 NC_005110.4 (7210169..7485895)

    Chromosome 11 - NC_086029.1Genomic Context describing neighboring genes Neighboring gene U2 spliceosomal RNA Neighboring gene eukaryotic translation initiation factor 4E, pseudogene 10 Neighboring gene uncharacterized LOC120095590 Neighboring gene uncharacterized LOC102549549 Neighboring gene uncharacterized LOC102550021 Neighboring gene uncharacterized LOC102549956 Neighboring gene small nucleolar RNA, C/D box 22

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV. Radhakrishnan P, et al. Clin Dysmorphol, 2019 Jan. PMID 30303820
    2. Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase. Kakhlon O, et al. J Neurochem, 2013 Oct. PMID 23607684
    3. Single fiber analyses of glycogen-related proteins reveal their differential association with glycogen in rat skeletal muscle. Murphy RM, et al. Am J Physiol Cell Physiol, 2012 Dec 1. PMID 23015546
    4. Risk prediction of pulmonary tuberculosis using genetic and conventional risk factors in adult Korean population. Hong EP, et al. PLoS One, 2017. PMID 28355295, Free PMC Article
    5. Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. Froese DS, et al. Hum Mol Genet, 2015 Oct 15. PMID 26199317, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables 1,4-alpha-glucan branching enzyme activity IDA
    Inferred from Direct Assay
    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 (using a glucosylated glycogenin as primer for glycogen synthesis) ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables carbohydrate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycogen biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    1,4-alpha-glucan-branching enzyme
    Names
    glucan (1,4-alpha-), branching enzyme 1
    NP_001093972.1
    XP_038944156.1
    XP_038944157.1
    XP_063126506.1

    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_001100502.1 → NP_001093972.1  1,4-alpha-glucan-branching enzyme

      See identical proteins and their annotated locations for NP_001093972.1

      Status: VALIDATED

      Source sequence(s)
      BC090037, BI284270, CB546687, CB724963
      UniProtKB/TrEMBL
      A6K4X8, A6K4X9
      Related
      ENSRNOP00000102922.1, ENSRNOT00000129667.1
      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
      PLN02447
      Location:15 → 699
      PLN02447; 1,4-alpha-glucan-branching enzyme
      pfam02806
      Location:603 → 698
      Alpha-amylase_C; Alpha amylase, C-terminal all-beta domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086029.1 Reference GRCr8

      Range
      22181194..22446640
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039088229.2 → XP_038944157.1  1,4-alpha-glucan-branching enzyme isoform X2

      UniProtKB/TrEMBL
      A6K4X9
      Conserved Domains (1) summary
      PLN02447
      Location:15 → 539
      PLN02447; 1,4-alpha-glucan-branching enzyme

    2. XM_039088228.2 → XP_038944156.1  1,4-alpha-glucan-branching enzyme isoform X1

      UniProtKB/TrEMBL
      Q5EB55
      Conserved Domains (1) summary
      PLN02447
      Location:30 → 623
      PLN02447; 1,4-alpha-glucan-branching enzyme

    3. XM_063270436.1 → XP_063126506.1  1,4-alpha-glucan-branching enzyme isoform X3

    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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