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    Bckdk branched chain ketoacid dehydrogenase kinase [ Mus musculus (house mouse) ]

    Gene ID: 12041, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Bckdkprovided by MGI
    Official Full Name
    branched chain ketoacid dehydrogenase kinaseprovided by MGI
    Primary source
    MGI:MGI:1276121
    See related
    Ensembl:ENSMUSG00000030802 AllianceGenome:MGI:1276121
    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
    BDK
    Summary
    Enables protein kinase activity. Predicted to be involved in several processes, including branched-chain amino acid catabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; and regulation of glucose metabolic process. Located in mitochondrion. Is expressed in several structures, including genitourinary system; heart; liver; lung; and skeletal muscle. Used to study autism spectrum disorder and branched-chain keto acid dehydrogenase kinase deficiency. Human ortholog(s) of this gene implicated in branched-chain keto acid dehydrogenase kinase deficiency. Orthologous to human BCKDK (branched chain keto acid dehydrogenase kinase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 49.2), mammary gland adult (RPKM 45.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Bckdk in Genome Data Viewer
    Location:
    7 F3; 7 69.82 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (127503245..127508836)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (127904073..127909664)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene zinc finger protein 646 Neighboring gene serine protease 53 Neighboring gene vitamin K epoxide reductase complex, subunit 1 Neighboring gene STARR-positive B cell enhancer ABC_E11370 Neighboring gene STARR-seq mESC enhancer starr_20195 Neighboring gene K(lysine) acetyltransferase 8 Neighboring gene serine protease 8 (prostasin) Neighboring gene STARR-positive B cell enhancer ABC_E6608 Neighboring gene serine protease 36 Neighboring gene predicted gene, 53375

    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. Structure-based design and mechanisms of allosteric inhibitors for mitochondrial branched-chain α-ketoacid dehydrogenase kinase. Tso SC, et al. Proc Natl Acad Sci U S A, 2013 Jun 11. PMID 23716694, Free PMC Article
    2. Muscle-specific deletion of BDK amplifies loss of myofibrillar protein during protein undernutrition. Ishikawa T, et al. Sci Rep, 2017 Jan 4. PMID 28051178, Free PMC Article
    3. Extra-cardiac BCAA catabolism lowers blood pressure and protects from heart failure. Murashige D, et al. Cell Metab, 2022 Nov 1. PMID 36223763, Free PMC Article
    4. Endurance performance and energy metabolism during exercise in mice with a muscle-specific defect in the control of branched-chain amino acid catabolism. Xu M, et al. PLoS One, 2017. PMID 28719620, Free PMC Article
    5. The case for regulating indispensable amino acid metabolism: the branched-chain alpha-keto acid dehydrogenase kinase-knockout mouse. Hutson SM. Biochem J, 2006 Nov 15. PMID 17061958, Free PMC Article

    See all (48) 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. BCKDK regulates the TCA cycle through PDC in the absence of PDK family during embryonic development.
      Title: BCKDK regulates the TCA cycle through PDC in the absence of PDK family during embryonic development.
    3. leucine supplementation increased the expression of enzymes (BCAT1, BCAT2 and BCKDK) that metabolize branched-chain amino acids.
      Title: Oral leucine supplementation is sensed by the brain but neither reduces food intake nor induces an anorectic pattern of gene expression in the hypothalamus.
    4. Results suggest that targeting mitochondrial BCKD kinase (BDK) as a pharmacological approach to mitigate the branched-chain amino acids (BCAAs) accumulation in metabolic diseases and heart failure.
      Title: Structure-based design and mechanisms of allosteric inhibitors for mitochondrial branched-chain α-ketoacid dehydrogenase kinase.
    5. branched-chain a-keto acid dehydrogenase complex kinase plays an important role in conserving branched-chain amino acids by limiting their oxidation
      Title: Impaired growth and neurological abnormalities in branched-chain alpha-keto acid dehydrogenase kinase-deficient mice.
    6. Tissue-specific translation of murine BCKDK mRNA is dependent upon an upstream open reading frame in the 5'-untranslated region
      Title: Tissue-specific translation of murine branched-chain alpha-ketoacid dehydrogenase kinase mRNA is dependent upon an upstream open reading frame in the 5'-untranslated region.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 ATP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein serine/threonine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables pyruvate dehydrogenase (acetyl-transferring) kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-leucine catabolic process ISO
    Inferred from Sequence Orthology
    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
    		  
    involved_in isoleucine catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lipid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of acetyl-CoA biosynthetic process from pyruvate IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of glucose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in valine catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    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
    		  
    part_of oxoglutarate dehydrogenase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    branched-chain alpha-ketoacid dehydrogenase kinase
    Names
    BCKD-kinase
    BCKDH kinase
    BCKDHKIN
    [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial
    NP_033869.1

    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_009739.3 → NP_033869.1  branched-chain alpha-ketoacid dehydrogenase kinase precursor

      See identical proteins and their annotated locations for NP_033869.1

      Status: VALIDATED

      Source sequence(s)
      AK150607, BY077717
      Consensus CDS
      CCDS21884.1
      UniProtKB/Swiss-Prot
      O55028
      UniProtKB/TrEMBL
      Q3UC13, Q3UCB5, Q8C6H9
      Related
      ENSMUSP00000070345.8, ENSMUST00000071056.14
      Conserved Domains (3) summary
      smart00387
      Location:266 → 401
      HATPase_c; Histidine kinase-like ATPases
      COG0642
      Location:154 → 400
      BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]
      pfam10436
      Location:69 → 222
      BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

    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
      127503245..127508836
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O55028.1 GenPept UniProtKB/Swiss-Prot:O55028

    Gene LinkOut

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

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