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

Summary

Official Symbol: Bckdhbprovided by MGI
Official Full Name: branched chain ketoacid dehydrogenase E1, beta polypeptideprovided by MGI
Primary source: MGI:MGI:88137
See related: Ensembl:ENSMUSG00000032263 AllianceGenome:MGI:88137
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: BCKDE1B; BCKDH E1-beta
Summary: This gene encodes the beta chain of the branched chain alpha ketoacid dehydrogenase (Bckdh) complex. The encoded protein exists in a heterotetrameric complex containing the Bckdh alpha subunit to form the E1 catalytic component of Bckdh complex. The Bckdh complex catalyzes the oxidative decarboxylation of branched chain ketoacids to their corresponding acyl-CoA esters, during the catabolism of leucine, isoleucine and valine. In humans, certain mutations in this gene cause maple syrup urine disease. Alternative splicing results in multiple transcript variants encoding different isoforms. A pseudogene for this gene has been identified. [provided by RefSeq, Apr 2015]
Expression: Ubiquitous expression in liver adult (RPKM 21.6), liver E18 (RPKM 17.0) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 E2; 9 45.67 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (83807190..84006293)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (83925111..84124240)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Successful treatment of severe MSUD in Bckdhb[-/-] mice with neonatal AAV gene therapy.
Title: Successful treatment of severe MSUD in Bckdhb(-/-) mice with neonatal AAV gene therapy.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Spontaneous (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9Mit133 (e-PCR), detects polymorphism
- UniSTS:131684

Bckdhb (e-PCR), detects polymorphism
- UniSTS:141161

D9Dcr22 (e-PCR), detects polymorphism
- UniSTS:498939

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	ISO Inferred from Sequence Orthology 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	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within amino acid catabolic process	TAS Traceable Author Statement more info	PubMed
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
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	IEA Inferred from Electronic Annotation more info
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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 inner membrane	TAS Traceable Author Statement more info	PubMed
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
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
part_of oxoglutarate dehydrogenase complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial

Names: branched-chain alpha-keto acid dehydrogenase E1 component beta chain

NP_001292864.1

EC 1.2.4.4

NP_001397112.1

EC 1.2.4.4

NP_001397113.1

EC 1.2.4.4

NP_954665.1

EC 1.2.4.4

XP_017168603.1

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_001305935.1 → NP_001292864.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_001292864.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AV455466, BC064099

Consensus CDS

CCDS81045.1

UniProtKB/Swiss-Prot

Q6P3A8

Related

ENSMUSP00000139684.2, ENSMUST00000190637.7

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:44 → 388

PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional

pfam02780
Location:260 → 379

Transketolase_C; Transketolase, C-terminal domain
NM_001410183.1 → NP_001397112.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 3

Status: REVIEWED

Source sequence(s)

AC124011, CT009769
NM_001410184.1 → NP_001397113.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 4

Status: REVIEWED

Source sequence(s)

AC124011, AC156638, CT009769
NM_199195.1 → NP_954665.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_954665.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

BC064099

Consensus CDS

CCDS23378.1

UniProtKB/Swiss-Prot

Q6P3A8

Related

ENSMUSP00000140598.2, ENSMUST00000190166.7

Conserved Domains (3) summary

cd07036
Location:5 → 171

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:1 → 320

PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional

pfam02780
Location:192 → 311

Transketolase_C; Transketolase, C-terminal domain

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

83807190..84006293

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017313114.3 → XP_017168603.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X2

Conserved Domains (1) summary

PTZ00182
Location:3 → 279

PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional