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    Bckdhb branched chain ketoacid dehydrogenase E1, beta polypeptide [ Mus musculus (house mouse) ]

    Gene ID: 12040, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Bckdhbprovided by MGI
    Official Full Name
    branched chain ketoacid dehydrogenase E1, beta polypeptideprovided by MGI
    Primary source
    MGI:MGI:88137
    See related
    Ensembl:ENSMUSG00000032263 AllianceGenome:MGI:88137
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    BCKDE1B; BCKDH E1-beta
    Summary
    This gene encodes the beta chain of the branched chain alpha ketoacid dehydrogenase (Bckdh) complex. The encoded protein exists in a heterotetrameric complex containing the Bckdh alpha subunit to form the E1 catalytic component of Bckdh complex. The Bckdh complex catalyzes the oxidative decarboxylation of branched chain ketoacids to their corresponding acyl-CoA esters, during the catabolism of leucine, isoleucine and valine. In humans, certain mutations in this gene cause maple syrup urine disease. Alternative splicing results in multiple transcript variants encoding different isoforms. A pseudogene for this gene has been identified. [provided by RefSeq, Apr 2015]
    Expression
    Ubiquitous expression in liver adult (RPKM 21.6), liver E18 (RPKM 17.0) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 E2; 9 45.67 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (83807190..84006293)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (83925111..84124240)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39387 Neighboring gene STARR-positive B cell enhancer mm9_chr9:83818551-83818852 Neighboring gene STARR-positive B cell enhancer mm9_chr9:83832965-83833266 Neighboring gene predicted gene, 36278 Neighboring gene predicted gene 29163 Neighboring gene predicted gene, 46124 Neighboring gene STARR-seq mESC enhancer starr_24801 Neighboring gene predicted gene, 53507 Neighboring gene predicted gene, 26146 Neighboring gene STARR-seq mESC enhancer starr_24803 Neighboring gene STARR-seq mESC enhancer starr_24806 Neighboring gene STARR-seq mESC enhancer starr_24807 Neighboring gene crumbs homolog 1 pseudogene

    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. Molecular cloning and analysis of the expression of the E1 beta subunit of branched chain alpha-ketoacid dehydrogenase in mice. Chinsky JM, et al. Biochim Biophys Acta, 1993 Dec 14. PMID 8268236
    2. Mild inborn errors of metabolism in commonly used inbred mouse strains. Leandro J, et al. Mol Genet Metab, 2019 Apr. PMID 30709776, Free PMC Article
    3. 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
    4. Impaired growth and neurological abnormalities in branched-chain alpha-keto acid dehydrogenase kinase-deficient mice. Joshi MA, et al. Biochem J, 2006 Nov 15. PMID 16875466, Free PMC Article
    5. Murine branched chain alpha-ketoacid dehydrogenase kinase; cDNA cloning, tissue distribution, and temporal expression during embryonic development. Doering CB, et al. Gene, 1998 Jun 8. PMID 9611264

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Successful treatment of severe MSUD in Bckdhb[-/-] mice with neonatal AAV gene therapy.
      Title: Successful treatment of severe MSUD in Bckdhb(-/-) mice with neonatal AAV gene therapy.
    2. 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)
    • Spontaneous (1)  1 citation
    • Endonuclease-mediated (2) 

    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 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    contributes_to branched-chain alpha-keto acid dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within amino acid catabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to nutrient IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of oxoglutarate dehydrogenase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
    Names
    branched-chain alpha-keto acid dehydrogenase E1 component beta chain
    NP_001292864.1
    NP_001397112.1
    NP_001397113.1
    NP_954665.1
    XP_017168603.1

    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_001305935.1 → NP_001292864.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_001292864.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AV455466, BC064099
      Consensus CDS
      CCDS81045.1
      UniProtKB/Swiss-Prot
      Q6P3A8
      Related
      ENSMUSP00000139684.2, ENSMUST00000190637.7
      Conserved Domains (3) summary
      cd07036
      Location:73 → 239
      TPP_PYR_E1-PDHc-beta_like; Pyrimidine (PYR) binding domain of the beta subunits of the E1 components of human pyruvate dehydrogenase complex (E1- PDHc) and related proteins
      PTZ00182
      Location:44 → 388
      PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
      pfam02780
      Location:260 → 379
      Transketolase_C; Transketolase, C-terminal domain

    2. NM_001410183.1 → NP_001397112.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC124011, CT009769

    3. NM_001410184.1 → NP_001397113.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC124011, AC156638, CT009769

    4. NM_199195.1 → NP_954665.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_954665.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      BC064099
      Consensus CDS
      CCDS23378.1
      UniProtKB/Swiss-Prot
      Q6P3A8
      Related
      ENSMUSP00000140598.2, ENSMUST00000190166.7
      Conserved Domains (3) summary
      cd07036
      Location:5 → 171
      TPP_PYR_E1-PDHc-beta_like; Pyrimidine (PYR) binding domain of the beta subunits of the E1 components of human pyruvate dehydrogenase complex (E1- PDHc) and related proteins
      PTZ00182
      Location:1 → 320
      PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
      pfam02780
      Location:192 → 311
      Transketolase_C; Transketolase, C-terminal 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_000075.7 Reference GRCm39 C57BL/6J

      Range
      83807190..84006293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017313114.3 → XP_017168603.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X2

      Conserved Domains (1) summary
      PTZ00182
      Location:3 → 279
      PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P3A8.2 GenPept UniProtKB/Swiss-Prot:Q6P3A8

    Gene LinkOut

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

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