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

Gene ID: 12039, updated on 27-Feb-2024

Summary

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
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Genomic context

See Bckdha in Genome Data Viewer
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

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 Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

General protein information

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

    Status: VALIDATED

    Source sequence(s)
    AC162614
    UniProtKB/TrEMBL
    Q99L69
  2. NM_001403511.1NP_001390440.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC162614
    UniProtKB/TrEMBL
    Q99L69
  3. NM_001403512.1NP_001390441.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC162614
    UniProtKB/TrEMBL
    Q99L69
  4. NM_001403513.1NP_001390442.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC162614
    UniProtKB/TrEMBL
    Q99L69
  5. NM_007533.6NP_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:107407
    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)