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Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide [ Mus musculus (house mouse) ]

Gene ID: 12039, updated on 11-Apr-2024

Summary

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Official Symbol
Bckdhaprovided by MGI
Official Full Name
branched chain ketoacid dehydrogenase E1, alpha polypeptideprovided by MGI
Primary source
MGI:MGI:107701
See related
Ensembl:ENSMUSG00000060376 AllianceGenome:MGI:107701
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
BCKAD; E1[a]; BCKDE1A
Summary
Predicted to enable 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity. Predicted to be involved in branched-chain amino acid catabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. 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, Apr 2022]
Expression
Broad expression in adrenal adult (RPKM 285.2), kidney adult (RPKM 277.1) and 26 other tissues See more
Orthologs
human all
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Genomic context

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Location:
7 A3; 7 13.94 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (25329371..25358178, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (25629852..25658782, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9286 Neighboring gene predicted gene, 38969 Neighboring gene distal membrane arm assembly complex 2 Neighboring gene predicted gene, 57782 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 Neighboring gene STARR-positive B cell enhancer ABC_E8156 Neighboring gene STARR-positive B cell enhancer ABC_E10430 Neighboring gene STARR-seq mESC enhancer starr_18309 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:26443819-26444002 Neighboring gene STARR-positive B cell enhancer ABC_E696 Neighboring gene exosome component 5 Neighboring gene transmembrane protein 91

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice. Pontoizeau C, et al. Nat Commun, 2022 Jun 7. PMID 35672312, Free PMC Article
  2. Effects of insulin on the regulation of branched-chain alpha-keto acid dehydrogenase E1 alpha subunit gene expression. Costeas PA, et al. Biochem J, 1996 Aug 15. PMID 8761456, Free PMC Article
  3. Leucine-induced activation of translational initiation is partly regulated by the branched-chain alpha-keto acid dehydrogenase complex in C2C12 cells. Nakai N, et al. Biochem Biophys Res Commun, 2006 May 19. PMID 16581023
  4. Leucine catabolism during the differentiation of 3T3-L1 cells. Expression of a mitochondrial enzyme system. Frerman FE, et al. J Biol Chem, 1983 Jun 10. PMID 6304077
  5. Impaired growth and neurological abnormalities in branched-chain alpha-keto acid dehydrogenase kinase-deficient mice. Joshi MA, et al. Biochem J, 2006 Nov 15. PMID 16875466, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BCKDHA contributes to melanoma progression by promoting the expressions of lipogenic enzymes FASN and ACLY.
    Title: BCKDHA contributes to melanoma progression by promoting the expressions of lipogenic enzymes FASN and ACLY.
  2. Disruption of the BDK gene establishes that regulation of BCKDH by phosphorylation is critically important for the regulation of oxidative disposal of branched-chain amino acids.
    Title: Impaired growth and neurological abnormalities in branched-chain alpha-keto acid dehydrogenase kinase-deficient mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1) 
  • Endonuclease-mediated (3) 

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 MGI

Function Evidence Code Pubs
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 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 oxidoreductase activity 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 ISO
Inferred from Sequence Orthology
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 branched-chain amino acid catabolic process ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in mitochondrion HDA 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
BCKAD E1[a]
BCKDH E1-alpha
branched-chain alpha-keto acid dehydrogenase E1 component alpha chain
NP_001390439.1
NP_001390440.1
NP_001390441.1
NP_001390442.1
NP_031559.3

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_001403510.1 → NP_001390439.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC162614

  2. NM_001403511.1 → NP_001390440.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC162614

  3. NM_001403512.1 → NP_001390441.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC162614

  4. NM_001403513.1 → NP_001390442.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC162614

  5. NM_007533.6 → NP_031559.3  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_031559.3

    Status: VALIDATED

    Source sequence(s)
    AC162614
    Consensus CDS
    CCDS52154.1
    UniProtKB/TrEMBL
    Q3U3J1, Q99L69
    Related
    ENSMUSP00000071292.7, ENSMUST00000071329.8
    Conserved Domains (1) summary
    pfam00676
    Location:107 → 407
    E1_dh; Dehydrogenase E1 component

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    25329371..25358178 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P50136.1 GenPept UniProtKB/Swiss-Prot:P50136

Gene LinkOut

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