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    bckdhb branched chain keto acid dehydrogenase E1 subunit beta [ Danio rerio (zebrafish) ]

    Gene ID: 569980, updated on 2-Nov-2024

    Summary

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    Official Symbol
    bckdhbprovided by ZNC
    Official Full Name
    branched chain keto acid dehydrogenase E1 subunit betaprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-030124-2
    See related
    Ensembl:ENSDARG00000014676 AllianceGenome:ZFIN:ZDB-GENE-030124-2
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    zgc:158777
    Summary
    Predicted to enable 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity. Predicted to be involved in branched-chain amino acid catabolic process and response to nutrient. Predicted to be part of oxoglutarate dehydrogenase complex. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See bckdhb in Genome Data Viewer
    Location:
    chromosome: 16
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 16 NC_007127.7 (5014287..5105295, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 16 NC_007127.6 (5147747..5205669, complement)

    Chromosome 16 - NC_007127.7Genomic Context describing neighboring genes Neighboring gene inhibitor of Bruton agammaglobulinemia tyrosine kinase Neighboring gene terminal nucleotidyltransferase 5Aa Neighboring gene ttk protein kinase Neighboring gene dynactin 3 (p22)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Mps1 defines a proximal blastemal proliferative compartment essential for zebrafish fin regeneration. Poss KD, et al. Development, 2002 Nov. PMID 12399306
    2. Gene expression analysis of zebrafish melanocytes, iridophores, and retinal pigmented epithelium reveals indicators of biological function and developmental origin. Higdon CW, et al. PLoS One, 2013. PMID 23874447, Free PMC Article
    3. The zebrafish gene map defines ancestral vertebrate chromosomes. Woods IG, et al. Genome Res, 2005 Sep. PMID 16109975, Free PMC Article
    4. Evolution of complexity in the zebrafish synapse proteome. Bayés À, et al. Nat Commun, 2017 Mar 2. PMID 28252024, Free PMC Article
    5. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC158777

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in branched-chain amino acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to nutrient IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    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 keto acid dehydrogenase E1, beta polypeptide
    NP_001074122.1

    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_001080653.1 → NP_001074122.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial

      See identical proteins and their annotated locations for NP_001074122.1

      Status: PROVISIONAL

      Source sequence(s)
      BC129445
      UniProtKB/TrEMBL
      A1L2C0
      Related
      ENSDARP00000076508.6, ENSDART00000082071.6
      Conserved Domains (3) summary
      cd07036
      Location:74 → 240
      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:60 → 389
      PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
      pfam02780
      Location:261 → 380
      Transketolase_C; Transketolase, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007127.7 Reference GRCz11 Primary Assembly

      Range
      5014287..5105295 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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