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

    Gene ID: 12040, updated on 23-Jun-2021

    Summary

    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
    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
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    Genomic context

    See Bckdhb in Genome Data Viewer
    Location:
    9; 9 E2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (83807164..84006293)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (83925111..84124240)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (83842388..84017847)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39387 Neighboring gene predicted gene, 36278 Neighboring gene predicted gene 29163 Neighboring gene predicted gene, 46124 Neighboring gene predicted gene, 53507 Neighboring gene predicted gene, 26146 Neighboring gene crumbs homolog 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in branched-chain amino acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in branched-chain amino acid catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cellular amino acid catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to nutrient IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of mitochondrial alpha-ketoglutarate dehydrogenase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of mitochondrial alpha-ketoglutarate dehydrogenase complex ISO
    Inferred from Sequence Orthology
    more info
     
    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
     

    General protein information

    Preferred Names
    2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
    Names
    branched-chain alpha-keto acid dehydrogenase E1 component beta chain
    NP_001292864.1
    NP_954665.1
    XP_006510849.1
    XP_006510851.1
    XP_017168603.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001305935.1NP_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:73239
      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:44388
      PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
      pfam02780
      Location:260379
      Transketolase_C; Transketolase, C-terminal domain
    2. NM_199195.1NP_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:5171
      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:1320
      PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
      pfam02780
      Location:192311
      Transketolase_C; Transketolase, C-terminal domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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
      83807164..84006293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510788.1XP_006510851.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X3

      Conserved Domains (1) summary
      PTZ00182
      Location:64206
      PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
    2. XM_006510786.2XP_006510849.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X1

      Conserved Domains (1) summary
      PTZ00182
      Location:62339
      PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
    3. XM_017313114.3XP_017168603.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X2

      Conserved Domains (1) summary
      PTZ00182
      Location:3279
      PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
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