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Dbt
Gene Detail
 Symbol
Name
ID
Dbt
dihydrolipoamide branched chain transacylase E2
MGI:105386
Synonyms BCKAD E2, D3Wsu60e, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, dihydrolipoyl transacylase
Feature Type protein coding gene
Genetic Map
Chromosome 3
50.37 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr3:116513070-116549976 bp, + strand
From VEGA annotation of GRCm38

  36907 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1444  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: dihydrolipoamide acetyltransferase
Gene Tree: Dbt

Human
homologs
Human Homolog DBT, dihydrolipoamide branched chain transacylase E2
NCBI Gene ID 1629
neXtProt AC  NX_P11182
Human Synonyms  BCATE2, BCKADE2, BCKAD-E2, E2, E2B
Human Chr (Location)  1p31; chr1:100186922-100249853 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human DBT
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(6) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutation of this gene results in postnatal lethality, pallor, respiratory distress, and an increase in branched-chain amino acids in the blood and urine. Homozygotes model Maple Syrup Urine Disease.
 
Human Diseases Modeled Using Mouse Dbt (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Dbt interacts with 243 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process metabolic process
Component mitochondrial nucleoid, mitochondrion
Function dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity, transferase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (115)    Tissues (108)    Images (12)
Theiler Stages: 9, 11, 13, 15, 17, 19, 20, 21, 22, 23, 24, 25, 26
Assay TypeResults
RNA in situ 96
RT-PCR 19
cDNA source data(83)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(85) cDNA(83) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000027084 (Evidence)
Ensembl Gene ModelENSMUSG00000000340 (Evidence)
Entrez Gene13171 (Evidence)
UniGene3636
DFCITC1578489, TC1618295, TC1689328
DoTSDT.101245120, DT.87068868
NIA Mouse Gene IndexU003771
EC2.3.1.168
Consensus CDS ProjectCCDS17787.1
International Mouse Knockout Project StatusDbt
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027084 VEGA Gene Model | MGI Sequence Detail 36907 C57BL/6J ±  kb
transcript OTTMUST00000066974 VEGA | MGI Sequence Detail 3296 Not Applicable 
polypeptide OTTMUSP00000033637 VEGA | MGI Sequence Detail 482 Not Applicable 

For the selected sequences
All sequences(31) RefSeq(6) UniProt(2)
Polymorphisms SNPs within 2kb(341 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001078 2-oxoacid dehydrogenase acyltransferase, catalytic domain
InterPro IPR003016 2-oxo acid dehydrogenase, lipoyl-binding site
InterPro IPR000089 Biotin/lipoyl attachment
InterPro IPR023213 Chloramphenicol acetyltransferase-like domain
InterPro IPR004167 E3 binding
InterPro IPR015761 Lipoamide Acyltransferase
InterPro IPR011053 Single hybrid motif
Protein Ontology PR:000006300 lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
References (Earliest) J:31317 Costeas PA, et al., Molecular cloning of the murine branched chain alpha-ketoacid dehydrogenase E2 subunit: presence of 3' B1 repeat elements. Biochim Biophys Acta. 1996 Feb 7;1305(1-2):25-8
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(42)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-33056, MGD-MRK-34214, MGI:106520

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory