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    Dbt dihydrolipoamide branched chain transacylase E2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 29611, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Dbtprovided by RGD
    Official Full Name
    dihydrolipoamide branched chain transacylase E2provided by RGD
    Primary source
    RGD:68403
    See related
    EnsemblRapid:ENSRNOG00000015029 AllianceGenome:RGD:68403
    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
    Predicted to enable acetyltransferase activity; lipoic acid binding activity; and ubiquitin protein ligase binding activity. Predicted to contribute to branched-chain alpha-keto acid dehydrogenase activity. Predicted to be involved in branched-chain amino acid catabolic process. Predicted to be located in cytosol; microtubule cytoskeleton; and mitochondrial nucleoid. Predicted to be part of branched-chain alpha-ketoacid dehydrogenase complex. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human DBT (dihydrolipoamide branched chain transacylase E2). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in Kidney (RPKM 287.4), Heart (RPKM 253.9) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Dbt in Genome Data Viewer
    Location:
    2q42
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 2 NC_086020.1 (207166660..207195528)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 2 NC_051337.1 (204481744..204510612)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 2 NC_005101.4 (219563783..219592651)

    Chromosome 2 - NC_086020.1Genomic Context describing neighboring genes Neighboring gene cell division cycle 14A Neighboring gene uncharacterized LOC120100925 Neighboring gene uncharacterized LOC134485678 Neighboring gene RNA 3'-terminal phosphate cyclase Neighboring gene leucine rich repeat containing 39 Neighboring gene tRNA methyltransferase 13 homolog Neighboring gene SAS-6 centriolar assembly protein

    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 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. Rare etiology of autosomal recessive disease in a child with noncarrier parents. Lebo RV, et al. Am J Hum Genet, 2000 Sep. PMID 10915611, Free PMC Article
    2. Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene. Lau KS, et al. J Biol Chem, 1992 Nov 25. PMID 1429740
    3. cDNA cloning of the chicken branched-chain alpha-keto acid dehydrogenase complex. Chicken-specific residues of the acyltransferase affect the overall activity and the interaction with the dehydrogenase. Ono K, et al. Eur J Biochem, 2001 Feb. PMID 11168412
    4. Proteomic analysis of increased Parkin expression and its interactants provides evidence for a role in modulation of mitochondrial function. Davison EJ, et al. Proteomics, 2009 Sep. PMID 19725078
    5. The layered structure of human mitochondrial DNA nucleoids. Bogenhagen DF, et al. J Biol Chem, 2008 Feb 8. PMID 18063578

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 RGD

    Function Evidence Code Pubs
    enables acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to branched-chain alpha-keto acid dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lipoic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in branched-chain amino acid catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of branched-chain alpha-ketoacid dehydrogenase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of branched-chain alpha-ketoacid dehydrogenase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of catalytic complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in microtubule cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial nucleoid ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
    NP_445764.1

    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_053312.1 → NP_445764.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

      See identical proteins and their annotated locations for NP_445764.1

      Status: VALIDATED

      Source sequence(s)
      AA955113, AB047915, BC101904, BF547307, BM391990, CK356543
      UniProtKB/TrEMBL
      A0A8I6A4P4, B2GV15, F7EMY8
      Related
      ENSRNOP00000020267.4, ENSRNOT00000020267.8
      Conserved Domains (4) summary
      cd06849
      Location:65 → 138
      lipoyl_domain; Lipoyl domain of the dihydrolipoyl acyltransferase component (E2) of 2-oxo acid dehydrogenases. 2-oxo acid dehydrogenase multienzyme complexes, like pyruvate dehydrogenase (PDH), 2-oxoglutarate dehydrogenase (OGDH) and branched-chain 2-oxo acid ...
      PLN02528
      Location:67 → 482
      PLN02528; 2-oxoisovalerate dehydrogenase E2 component
      pfam00198
      Location:267 → 479
      2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
      pfam02817
      Location:172 → 205
      E3_binding; e3 binding 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_086020.1 Reference GRCr8

      Range
      207166660..207195528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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