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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

Expression

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  • Project title: 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. 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

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