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

Gene ID: 12040, updated on 27-Nov-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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See Bckdhb in Genome Data Viewer
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. Successful treatment of severe MSUD in Bckdhb(-/-) mice with neonatal AAV gene therapy. Pontoizeau C, et al. J Inherit Metab Dis, 2024 Jan. PMID 36880392
  2. 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
  3. 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
  4. 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
  5. 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

See all (23) 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)
  • Endonuclease-mediated (2) 
  • Spontaneous (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 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
  
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 metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein-containing complex binding 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
  
involved_in branched-chain amino acid catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in response to cAMP IEA
Inferred from Electronic Annotation
more info
  
involved_in response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
  
involved_in response to nutrient IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to nutrient IEA
Inferred from Electronic Annotation
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 inner membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion HDA PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
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
  
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 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

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