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Dbt dihydrolipoamide branched chain transacylase E2 [ Mus musculus (house mouse) ]

Gene ID: 13171, updated on 1-Mar-2024

Summary

Official Symbol
Dbtprovided by MGI
Official Full Name
dihydrolipoamide branched chain transacylase E2provided by MGI
Primary source
MGI:MGI:105386
See related
Ensembl:ENSMUSG00000000340 AllianceGenome:MGI:105386
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 E2; BCKAD-E2; D3Wsu60e
Summary
Predicted to enable acetyltransferase activity; lipoic acid binding activity; and ubiquitin protein ligase binding activity. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; integumental system; sensory organ; and urinary system. Used to study maple syrup urine disease. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human DBT (dihydrolipoamide branched chain transacylase E2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in liver E18 (RPKM 14.3), kidney adult (RPKM 13.7) and 27 other tissues See more
Orthologs
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Genomic context

See Dbt in Genome Data Viewer
Location:
3 G1; 3 50.37 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (116306776..116343630)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (116513070..116549981)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 26358 Neighboring gene RNA 3'-terminal phosphate cyclase Neighboring gene STARR-positive B cell enhancer ABC_E656 Neighboring gene STARR-positive B cell enhancer ABC_E2680 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:116216204-116216387 Neighboring gene ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) pseudogene Neighboring gene splicing factor, arginine/serine-rich pseudogene Neighboring gene leucine rich repeat containing 39 Neighboring gene STARR-seq mESC enhancer starr_08780 Neighboring gene tRNA methyltransferase 13

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

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables acyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity IEA
Inferred from Electronic Annotation
more info
 
enables lipoic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
enables ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in branched-chain amino acid catabolic process ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in microtubule cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
part_of mitochondrial alpha-ketoglutarate dehydrogenase complex ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrial nucleoid ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
Names
branched-chain alpha-keto acid dehydrogenase complex component E2
branched-chain alpha-ketoacid dehydrogenase, E2 subunit
dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex
dihydrolipoyl transacylase
dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
part of the BCKAD complex
NP_001344273.1
NP_001396820.1
NP_001396821.1
NP_001396822.1
NP_001396823.1
NP_001396824.1
NP_001396825.1
NP_001396826.1
NP_034152.2

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_001357344.2NP_001344273.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC025622
    Conserved Domains (1) summary
    PLN02528
    Location:2301
    PLN02528; 2-oxoisovalerate dehydrogenase E2 component
  2. NM_001409891.1NP_001396820.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC025622
    UniProtKB/TrEMBL
    Q7TND9
  3. NM_001409892.1NP_001396821.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC025622
    UniProtKB/TrEMBL
    Q7TND9
  4. NM_001409893.1NP_001396822.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 5 precursor

    Status: VALIDATED

    Source sequence(s)
    AC025622
    UniProtKB/TrEMBL
    Q7TND9
  5. NM_001409894.1NP_001396823.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC025622
  6. NM_001409895.1NP_001396824.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC025622
  7. NM_001409896.1NP_001396825.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC025622
    UniProtKB/TrEMBL
    Q7TND9
  8. NM_001409897.1NP_001396826.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC025622
  9. NM_010022.5NP_034152.2  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_034152.2

    Status: VALIDATED

    Source sequence(s)
    AC025622
    Consensus CDS
    CCDS17787.1
    UniProtKB/Swiss-Prot
    P53395, Q3TMF5
    UniProtKB/TrEMBL
    Q7TND9
    Related
    ENSMUSP00000000349.7, ENSMUST00000000349.11
    Conserved Domains (4) summary
    cd06849
    Location:65138
    lipoyl_domain; Lipoyl domain of the dihydrolipoyl acyltransferase component (E2) of 2-oxo acid dehydrogenases. 2-oxo acid dehydrogenase multienzyme complexes, like pyruvate dehydrogenase (PDH), 2-oxoglutarate dehydrogenase (OGDH) and branched-chain 2-oxo acid ...
    PLN02528
    Location:67482
    PLN02528; 2-oxoisovalerate dehydrogenase E2 component
    pfam00198
    Location:267479
    2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
    pfam02817
    Location:172205
    E3_binding; e3 binding 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

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    116306776..116343630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)