Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 12040, updated on 31-Jan-2019

    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

    Genomic context

    See Bckdhb in Genome Data Viewer
    Location:
    9; 9 E2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (83925111..84124240)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (83842388..84017847)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 39387 Neighboring gene predicted gene, 36278 Neighboring gene predicted gene, 46124 Neighboring gene crumbs homolog 1 pseudogene Neighboring gene ribosomal protein L7A 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IEA
    Inferred from Electronic Annotation
    more info
     
    alpha-ketoacid dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    alpha-ketoacid dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to alpha-ketoacid dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    branched-chain amino acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    branched-chain amino acid catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    cellular amino acid catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrial alpha-ketoglutarate dehydrogenase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial alpha-ketoglutarate dehydrogenase complex ISO
    Inferred from Sequence Orthology
    more info
     
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrion HDA PubMed 
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion 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)

    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
      ENSMUSP00000139684.1, ENSMUST00000190637.6
      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
      ENSMUSP00000140598.1, ENSMUST00000190166.6
      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 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      83925111..84124240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510786.1XP_006510849.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X1

      Conserved Domains (3) summary
      cd07036
      Location:40190
      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
      COG0022
      Location:40341
      AcoB; Pyruvate/2-oxoglutarate/acetoin dehydrogenase complex, dehydrogenase (E1) component [Energy production and conversion]
      pfam02780
      Location:211330
      Transketolase_C; Transketolase, C-terminal domain
    2. XM_006510788.1XP_006510851.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X3

      Conserved Domains (1) summary
      pfam02780
      Location:78197
      Transketolase_C; Transketolase, C-terminal domain
    3. XM_017313114.1XP_017168603.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X2

      Conserved Domains (2) summary
      cd07036
      Location:2130
      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
      pfam02780
      Location:151270
      Transketolase_C; Transketolase, C-terminal domain
    Support Center