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    Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide [ Mus musculus (house mouse) ]

    Gene ID: 12039, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Bckdhaprovided by MGI
    Official Full Name
    branched chain ketoacid dehydrogenase E1, alpha polypeptideprovided by MGI
    Primary source
    MGI:MGI:107701
    See related
    Ensembl:ENSMUSG00000060376 AllianceGenome:MGI:107701
    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; E1[a]; BCKDE1A
    Summary
    Predicted to enable metal ion binding activity. Predicted to contribute to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity and 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; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in adrenal adult (RPKM 285.2), kidney adult (RPKM 277.1) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Bckdha in Genome Data Viewer
    Location:
    7 A3; 7 13.94 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (25329371..25358178, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (25629852..25658782, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9286 Neighboring gene predicted gene, 38969 Neighboring gene distal membrane arm assembly complex 2 Neighboring gene predicted gene, 57782 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 Neighboring gene STARR-positive B cell enhancer ABC_E8156 Neighboring gene STARR-positive B cell enhancer ABC_E10430 Neighboring gene STARR-seq mESC enhancer starr_18309 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:26443819-26444002 Neighboring gene STARR-positive B cell enhancer ABC_E696 Neighboring gene exosome component 5 Neighboring gene transmembrane protein 91

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice. Pontoizeau C, et al. Nat Commun, 2022 Jun 7. PMID 35672312, Free PMC Article
    2. Effects of insulin on the regulation of branched-chain alpha-keto acid dehydrogenase E1 alpha subunit gene expression. Costeas PA, et al. Biochem J, 1996 Aug 15. PMID 8761456, Free PMC Article
    3. Leucine catabolism during the differentiation of 3T3-L1 cells. Expression of a mitochondrial enzyme system. Frerman FE, et al. J Biol Chem, 1983 Jun 10. PMID 6304077
    4. Branched-chain amino acid catabolic defect promotes α-cell proliferation via activating mTOR signaling. Yang Y, et al. Mol Cell Endocrinol, 2024 Mar 1. PMID 38158148
    5. Leucine-induced activation of translational initiation is partly regulated by the branched-chain alpha-keto acid dehydrogenase complex in C2C12 cells. Nakai N, et al. Biochem Biophys Res Commun, 2006 May 19. PMID 16581023

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BCKDH kinase promotes hepatic gluconeogenesis independent of BCKDHA.
      Title: BCKDH kinase promotes hepatic gluconeogenesis independent of BCKDHA.
    2. BCKDHA contributes to melanoma progression by promoting the expressions of lipogenic enzymes FASN and ACLY.
      Title: BCKDHA contributes to melanoma progression by promoting the expressions of lipogenic enzymes FASN and ACLY.
    3. Disruption of the BDK gene establishes that regulation of BCKDH by phosphorylation is critically important for the regulation of oxidative disposal of branched-chain amino acids.
      Title: Impaired growth and neurological abnormalities in branched-chain alpha-keto acid dehydrogenase kinase-deficient mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (1) 

    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
    contributes_to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    contributes_to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    contributes_to branched-chain alpha-keto acid dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in branched-chain amino acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in branched-chain amino acid catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in branched-chain amino acid catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of branched-chain alpha-ketoacid dehydrogenase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of branched-chain alpha-ketoacid dehydrogenase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    part_of oxoglutarate dehydrogenase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of oxoglutarate dehydrogenase complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
    Names
    BCKAD E1[a]
    BCKDH E1-alpha
    branched-chain alpha-keto acid dehydrogenase E1 component alpha chain
    NP_001390439.1
    NP_001390440.1
    NP_001390441.1
    NP_001390442.1
    NP_031559.3

    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_001403510.1 → NP_001390439.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC162614
      UniProtKB/TrEMBL
      Q99L69

    2. NM_001403511.1 → NP_001390440.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC162614
      UniProtKB/TrEMBL
      Q99L69

    3. NM_001403512.1 → NP_001390441.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC162614
      UniProtKB/TrEMBL
      Q99L69

    4. NM_001403513.1 → NP_001390442.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC162614
      UniProtKB/TrEMBL
      Q99L69

    5. NM_007533.6 → NP_031559.3  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_031559.3

      Status: VALIDATED

      Source sequence(s)
      AC162614
      Consensus CDS
      CCDS52154.1
      UniProtKB/TrEMBL
      Q3U3J1, Q99L69
      Related
      ENSMUSP00000071292.7, ENSMUST00000071329.8
      Conserved Domains (1) summary
      pfam00676
      Location:107 → 407
      E1_dh; Dehydrogenase E1 component

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      25329371..25358178 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50136.1 GenPept UniProtKB/Swiss-Prot:P50136

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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