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    Bckdha branched chain keto acid dehydrogenase E1 subunit alpha [ Rattus norvegicus (Norway rat) ]

    Gene ID: 25244, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Bckdhaprovided by RGD
    Official Full Name
    branched chain keto acid dehydrogenase E1 subunit alphaprovided by RGD
    Primary source
    RGD:2196
    See related
    EnsemblRapid:ENSRNOG00000020607 AllianceGenome:RGD:2196
    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
    E1a; BCKDA
    Summary
    Predicted to enable metal ion binding activity and oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor. 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. 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 BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Adrenal (RPKM 1002.9), Kidney (RPKM 697.8) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Bckdha in Genome Data Viewer
    Location:
    1q21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (90266731..90295521, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (81138946..81167765, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (82423291..82452094, complement)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene distal membrane arm assembly component 2 Neighboring gene glutamate-rich 4 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 Neighboring gene exosome component 5 Neighboring gene transmembrane protein 91 Neighboring gene uncharacterized LOC134482996 Neighboring gene B9 domain containing 2

    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 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 a cDNA for the E1 alpha subunit of rat liver branched chain alpha-ketoacid dehydrogenase. Zhang B, et al. J Biol Chem, 1987 Nov 5. PMID 2822716
    2. Downregulation of extramitochondrial BCKDH and its uncoupling from AMP deaminase in type 2 diabetic OLETF rat hearts. Ogawa T, et al. Physiol Rep, 2023 Feb. PMID 36802195, Free PMC Article
    3. Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease. Zhang B, et al. Mol Biol Med, 1991 Feb. PMID 1943689
    4. Purification of branched chain alpha-ketoacid dehydrogenase complex from rat liver. Shimomura Y, et al. Anal Biochem, 1987 May 15. PMID 3619032
    5. 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

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of extramitochondrial BCKDH and its uncoupling from AMP deaminase in type 2 diabetic OLETF rat hearts.
      Title: Downregulation of extramitochondrial BCKDH and its uncoupling from AMP deaminase in type 2 diabetic OLETF rat hearts.
    2. It has been found that NaBut reduces proliferation rate of ERasBcl (E1A, cHa-ras and bcl-2 ) cells significantly weaker than of ERas transformed cells
      Title: [Antiapoptotic gene bcl-2 prevents cellular senescence program reactivation induced by histone deacetylase inhibitor sodium butyrate in E1A and cHa-ras transformed rat fibroblasts].
    3. 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 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 branched-chain alpha-keto acid dehydrogenase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor 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 branched-chain amino acid catabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 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 ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    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 alpha, mitochondrial
    Names
    BCKDE1A
    BCKDH E1-alpha
    branched chain alpha-ketoacid dehydrogenase subunit E1 alpha
    branched chain keto acid dehydrogenase subunit E1, alpha polypeptide
    branched chain ketoacid dehydrogenase E1, alpha polypeptide
    branched-chain alpha-keto acid dehydrogenase E1 component alpha chain
    NP_036914.1
    XP_017444303.1
    XP_038957453.1
    XP_063137592.1

    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_012782.1 → NP_036914.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

      See identical proteins and their annotated locations for NP_036914.1

      Status: VALIDATED

      Source sequence(s)
      BC089915, CB579195, J02827
      UniProtKB/Swiss-Prot
      P11960
      UniProtKB/TrEMBL
      B1WBN3
      Related
      ENSRNOP00000109641.1, ENSRNOT00000151777.1
      Conserved Domains (1) summary
      pfam00676
      Location:107 → 407
      E1_dh; Dehydrogenase E1 component

    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_086019.1 Reference GRCr8

      Range
      90266731..90295521 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039101525.2 → XP_038957453.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform X2

      UniProtKB/Swiss-Prot
      P11960
      Conserved Domains (1) summary
      cd02000
      Location:106 → 329
      TPP_E1_PDC_ADC_BCADC; Thiamine pyrophosphate (TPP) family, E1 of PDC_ADC_BCADC subfamily, TPP-binding module; composed of proteins similar to the E1 components of the human pyruvate dehydrogenase complex (PDC), the acetoin dehydrogenase complex (ADC) and the branched chain ...

    2. XM_017588814.3 → XP_017444303.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A6J973

    3. XM_063281522.1 → XP_063137592.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform X3

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11960.1 GenPept UniProtKB/Swiss-Prot:P11960

    Gene LinkOut

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