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    Bckdhb branched chain keto acid dehydrogenase E1 subunit beta [ Rattus norvegicus (Norway rat) ]

    Gene ID: 29711, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Bckdhbprovided by RGD
    Official Full Name
    branched chain keto acid dehydrogenase E1 subunit betaprovided by RGD
    Primary source
    RGD:2197
    See related
    EnsemblRapid:ENSRNOG00000009928 AllianceGenome:RGD:2197
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    BCKDE1B
    Summary
    Predicted to enable metal ion binding activity. Predicted to contribute to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity and branched-chain alpha-keto acid dehydrogenase activity. Involved in response to cAMP; response to glucocorticoid; and response to nutrient. Predicted to be located in mitochondrion; nucleolus; and nucleoplasm. Predicted to be part of branched-chain alpha-ketoacid dehydrogenase complex and 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, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 470.9), Heart (RPKM 468.9) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Bckdhb in Genome Data Viewer
    Location:
    8q31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (93725277..93907799)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (84845264..85027812)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (91464229..91656134)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC108351756 Neighboring gene uncharacterized LOC102557516 Neighboring gene U2 spliceosomal RNA Neighboring gene mitochondrial ribosomal protein L41 like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Molecular cloning of the E1 beta subunit of the rat branched chain alpha-ketoacid dehydrogenase. Zhao Y, et al. Biochim Biophys Acta, 1992 Sep 24. PMID 1390893
    2. Molecular cloning of the E1 beta subunit of the rat branched chain alpha-ketoacid dehydrogenase. Zhao Y, et al. Biochim Biophys Acta, 1995 Jan 25. PMID 7841205
    3. Simvastatin increases liver branched-chain α-ketoacid dehydrogenase activity in rats fed with low protein diet. Knapik-Czajka M. Toxicology, 2014 Nov 5. PMID 25193403
    4. Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. Nobukuni Y, et al. J Clin Invest, 1991 May. PMID 2022752, Free PMC Article
    5. Purification of branched chain alpha-ketoacid dehydrogenase complex from rat liver. Shimomura Y, et al. Anal Biochem, 1987 May 15. PMID 3619032

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Simvastatin stimulates liver BCKDH activity and BCAAs degradation in rats fed with the low protein diet.
      Title: Simvastatin increases liver branched-chain α-ketoacid dehydrogenase activity in rats fed with low protein diet.
    Submit: New GeneRIF Correction

    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 RGD

    Function Evidence Code Pubs
    enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    contributes_to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity ISS
    Inferred from Sequence or Structural Similarity
    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 IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 IEA
    Inferred from Electronic Annotation
    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 IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in response to glucocorticoid IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in response to nutrient IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to nutrient IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of branched-chain alpha-ketoacid dehydrogenase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  

    General protein information

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    Preferred Names
    2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
    Names
    2-oxoisovalerate dehydrogenase beta subunit
    BCKDH E1-beta
    branched chain keto acid dehydrogenase E1 beta
    branched chain keto acid dehydrogenase E1, beta polypeptide
    branched-chain alpha-keto acid dehydrogenase E1 component beta chain
    NP_062140.1

    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_019267.1 → NP_062140.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial precursor

      See identical proteins and their annotated locations for NP_062140.1

      Status: VALIDATED

      Source sequence(s)
      BM385109, CB547976, CK473898, DV215445, M94040
      UniProtKB/Swiss-Prot
      P35738
      UniProtKB/TrEMBL
      A0A0A0MXW1, A6I1S6
      Related
      ENSRNOP00000013249.7, ENSRNOT00000013249.8
      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:64 → 388
      PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
      pfam02780
      Location:260 → 379
      Transketolase_C; Transketolase, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086026.1 Reference GRCr8

      Range
      93725277..93907799
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35738.3 GenPept UniProtKB/Swiss-Prot:P35738

    Gene LinkOut

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

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