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    Dbt dihydrolipoamide branched chain transacylase E2 [ Mus musculus (house mouse) ]

    Gene ID: 13171, updated on 3-Nov-2024

    Summary

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    Official Symbol
    Dbtprovided by MGI
    Official Full Name
    dihydrolipoamide branched chain transacylase E2provided by MGI
    Primary source
    MGI:MGI:105386
    See related
    Ensembl:ENSMUSG00000000340 AllianceGenome:MGI:105386
    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
    BCKAD E2; BCKAD-E2; D3Wsu60e
    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. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; integumental system; sensory organ; and urinary system. Used to study maple syrup urine disease. 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, Nov 2024]
    Expression
    Ubiquitous expression in liver E18 (RPKM 14.3), kidney adult (RPKM 13.7) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dbt in Genome Data Viewer
    Location:
    3 G1; 3 50.37 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (116306776..116343630)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (116513070..116549981)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 26358 Neighboring gene RNA 3'-terminal phosphate cyclase Neighboring gene STARR-positive B cell enhancer ABC_E656 Neighboring gene STARR-positive B cell enhancer ABC_E2680 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:116216204-116216387 Neighboring gene ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) pseudogene Neighboring gene splicing factor, arginine/serine-rich pseudogene Neighboring gene leucine rich repeat containing 39 Neighboring gene STARR-seq mESC enhancer starr_08780 Neighboring gene tRNA methyltransferase 13

    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 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. Production and characterization of murine models of classic and intermediate maple syrup urine disease. Homanics GE, et al. BMC Med Genet, 2006 Mar 31. PMID 16579849, Free PMC Article
    2. Molecular cloning of the murine branched chain alpha-ketoacid dehydrogenase E2 subunit: presence of 3' B1 repeat elements. Costeas PA, et al. Biochim Biophys Acta, 1996 Feb 7. PMID 8605244
    3. Isolation of the murine branched-chain alpha-ketoacid dehydrogenase E2 subunit promoter region. Costeas PA, et al. Biochim Biophys Acta, 1998 Jul 30. PMID 9714767
    4. Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD. S Sonnet D, et al. Sci Rep, 2016 Jul 4. PMID 27373929, Free PMC Article
    5. Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD). Skvorak KJ, et al. Biochim Biophys Acta, 2009 Oct. PMID 19699299, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1)  1 citation

    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 acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables branched-chain alpha-keto acid dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to branched-chain alpha-keto acid dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lipoic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in branched-chain amino acid catabolic process IEA
    Inferred from Electronic Annotation
    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
    		  
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial nucleoid ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    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
    Names
    branched-chain alpha-keto acid dehydrogenase complex component E2
    branched-chain alpha-ketoacid dehydrogenase, E2 subunit
    dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex
    dihydrolipoyl transacylase
    dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
    part of the BCKAD complex
    NP_001344273.1
    NP_001396820.1
    NP_001396821.1
    NP_001396822.1
    NP_001396823.1
    NP_001396824.1
    NP_001396825.1
    NP_001396826.1
    NP_034152.2

    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_001357344.2 → NP_001344273.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025622
      Conserved Domains (1) summary
      PLN02528
      Location:2 → 301
      PLN02528; 2-oxoisovalerate dehydrogenase E2 component

    2. NM_001409891.1 → NP_001396820.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC025622

    3. NM_001409892.1 → NP_001396821.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC025622

    4. NM_001409893.1 → NP_001396822.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AC025622

    5. NM_001409894.1 → NP_001396823.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025622

    6. NM_001409895.1 → NP_001396824.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025622

    7. NM_001409896.1 → NP_001396825.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC025622

    8. NM_001409897.1 → NP_001396826.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025622

    9. NM_010022.5 → NP_034152.2  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_034152.2

      Status: VALIDATED

      Source sequence(s)
      AC025622
      Consensus CDS
      CCDS17787.1
      UniProtKB/Swiss-Prot
      P53395, Q3TMF5
      UniProtKB/TrEMBL
      Q7TND9
      Related
      ENSMUSP00000000349.7, ENSMUST00000000349.11
      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_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_000069.7 Reference GRCm39 C57BL/6J

      Range
      116306776..116343630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P53395.2 GenPept UniProtKB/Swiss-Prot:P53395

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