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

Gene ID: 288333, updated on 27-Nov-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. Predicted to be active in cytosol. 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
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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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 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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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 cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
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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