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

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:107701
See related: Ensembl:ENSMUSG00000060376
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus

Genomic context

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Location :: 7 A3; 7

Sequence :: Chromosome: 7; NC_000073.6 (25629852..25658761, complement)

See Bckdha in Epigenomics, MapViewer

Chromosome 7 - NC_000073.6 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

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

Pathways from BioSystems

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Branched-chain amino acid catabolism, organism-specific biosystem (from REACTOME)
Branched-chain amino acid catabolism, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Leucine Catabolism, organism-specific biosystem (from BIOCYC)
Leucine Catabolism, organism-specific biosystemPathway summary from MetaCyc. In humans, mutations in the alpha or beta subunits of 3-methylcrotonyl-CoA carboxylase result in inborn errors of matabolism called methylcrotonylglycinuria type I and ...
Leucine degradation, leucine => acetoacetate + acetyl-CoA, organism-specific biosystem (from KEGG)
Leucine degradation, leucine => acetoacetate + acetyl-CoA, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Branched-chain amino acid metabolism
Leucine degradation, leucine => acetoacetate + acetyl-CoA, conserved biosystem (from KEGG)
Leucine degradation, leucine => acetoacetate + acetyl-CoA, conserved biosystemPathway module; Nucleotide and amino acid metabolism; Branched-chain amino acid metabolism
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
Metabolism of amino acids and derivatives, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Valine, leucine and isoleucine degradation, organism-specific biosystem (from KEGG)
Valine, leucine and isoleucine degradation, organism-specific biosystem
Valine, leucine and isoleucine degradation
Valine, leucine and isoleucine degradation, conserved biosystem (from KEGG)
Valine, leucine and isoleucine degradation, conserved biosystem
Valine, leucine and isoleucine degradation
branched-chain alpha-keto acid dehydrogenase complex, organism-specific biosystem (from BIOCYC)
branched-chain alpha-keto acid dehydrogenase complex, organism-specific biosystem
branched-chain alpha-keto acid dehydrogenase complex
isoleucine degradation, organism-specific biosystem (from BIOCYC)
isoleucine degradation, organism-specific biosystemPathway summary from MetaCyc. In humans, mutations in ACADSB gene cause an inborn error of metabolism called 2-Methylbutyryl-CoA dehydrogenase deficiency .
valine degradation, organism-specific biosystem (from BIOCYC)
valine degradation, organism-specific biosystem
valine degradation

General gene information

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Markers

Bckdha (e-PCR), detects polymorphism
- UniSTS:141160

Homology

Homologs of the Bckdha gene: The Bckdha gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, zebrafish, fruit fly, mosquito, C.elegans, M.oryzae, N.crassa, A.thaliana, and rice.
Map Viewer (Human, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	IEA Inferred from Electronic Annotation more info
alpha-ketoacid dehydrogenase activity	ISO Inferred from Sequence Orthology more info
metal ion binding	IEA Inferred from Electronic Annotation more info
oxidoreductase activity	IEA Inferred from Electronic Annotation more info
oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	IEA Inferred from Electronic Annotation more info
protein complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
branched-chain amino acid catabolic process	ISO Inferred from Sequence Orthology more info
metabolic process	IEA Inferred from Electronic Annotation more info
oxidation-reduction process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
mitochondrial alpha-ketoglutarate dehydrogenase complex	ISO Inferred from Sequence Orthology more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

Names: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; BCKDE1A; BCKAD E1[a]; BCKDH E1-alpha; branched-chain alpha-keto acid dehydrogenase E1 component alpha chain

NP_031559.3

EC 1.2.4.4

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)

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

Status: VALIDATED

Source sequence(s)

AC162614

Consensus CDS

CCDS52154.1

UniProtKB/TrEMBL

Q3U3J1

Related

ENSMUSP00000071292, ENSMUST00000071329

Conserved Domains (2) summary

cd02000
Location:106 – 398
Blast Score: 976

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 ...

TIGR03181
Location:78 – 428
Blast Score: 899

PDH_E1_alph_x; pyruvate dehydrogenase E1 component, alpha subunit

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 103

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

Reference GRCm38.p1 C57BL/6J

Genomic

NC_000073.6 Reference GRCm38.p1 C57BL/6J

Range

25629852..25658761, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

AC_000029.1 Alternate Mm_Celera

Range

20238873..20267674, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain
genomic	AAHY01060005.1 (116047..144848)	None
genomic	AC162614.2 (114970..143879)	None
genomic	CH466593.2	EDL24248.1	mixed
mRNA	AK002435.1	None	C57BL/6J
mRNA	AK154734.1	BAE32795.1	NOD
mRNA	BC003787.1	AAH03787.1	FVB/N
mRNA	L47335.1	AAB38422.1