U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 12040, updated on 26-Sep-2022

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Bckdhb in Genome Data Viewer
Location:
9; 9 E2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (83807164..84006293)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (83925111..84124240)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39387 Neighboring gene predicted gene, 36278 Neighboring gene predicted gene 29163 Neighboring gene predicted gene, 46124 Neighboring gene predicted gene, 53507 Neighboring gene predicted gene, 26146 Neighboring gene crumbs homolog 1 pseudogene

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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

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
PubMed 
involved_in branched-chain amino acid catabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in response to nutrient IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of mitochondrial alpha-ketoglutarate dehydrogenase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of mitochondrial alpha-ketoglutarate dehydrogenase complex ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
PubMed 
located_in mitochondrion HDA PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
Names
branched-chain alpha-keto acid dehydrogenase E1 component beta chain
NP_001292864.1
NP_954665.1
XP_006510849.1
XP_006510851.1
XP_017168603.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001305935.1NP_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:73239
    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:44388
    PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
    pfam02780
    Location:260379
    Transketolase_C; Transketolase, C-terminal domain
  2. NM_001410183.1NP_001397112.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC124011, CT009769
  3. NM_001410184.1NP_001397113.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC124011, AC156638, CT009769
  4. NM_199195.1NP_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:5171
    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:1320
    PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
    pfam02780
    Location:192311
    Transketolase_C; Transketolase, C-terminal domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    83807164..84006293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006510788.1XP_006510851.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X3

    Conserved Domains (1) summary
    PTZ00182
    Location:64206
    PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
  2. XM_006510786.2XP_006510849.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X1

    Conserved Domains (1) summary
    PTZ00182
    Location:62339
    PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
  3. XM_017313114.3XP_017168603.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X2

    Conserved Domains (1) summary
    PTZ00182
    Location:3279
    PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional