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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
Chr3:116513070-116549981 bp, + strand
From VEGA annotation of GRCm38

  36912 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 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: DBT
Protein SuperFamily: dihydrolipoamide acetyltransferase
Gene Tree: Dbt

Human
homologs
DBT, dihydrolipoamide branched chain transacylase E2
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1629
neXtProt AC: NX_P11182

Human Synonyms: BCATE2, BCKADE2, BCKAD-E2, BCOADC-E2, E2, E2B

Human Chr (Location): 1p31; chr1:100186922-100249863 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human DBT

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(6) Targeted(4) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Dbt (1)    Mutations Annotated to Human Diseases (3)   
Interactions
Dbt interacts with 242 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (4 records)
Data Summary: Results (115)    Tissues (108)    Images (12)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 96
RT-PCR 19
cDNA source data(83)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase dbt ; ZFIN dbt    NEW 
Molecular
reagents
All nucleic(85) cDNA(83) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000027084 (Evidence)
Ensembl Gene Model ENSMUSG00000000340 (Evidence)
Entrez Gene 13171 (Evidence)
UniGene 3636
DFCI TC1578489, TC1618295, TC1689328
DoTS DT.101245120, DT.87068868
NIA Mouse Gene Index U003771
EC 2.3.1.168
Consensus CDS Project CCDS17787.1
International Mouse Phenotyping Consortium Status Dbt
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027084 VEGA Gene Model | MGI Sequence Detail 36912 C57BL/6J ±  kb
transcript OTTMUST00000066974 VEGA | MGI Sequence Detail 3301 Not Applicable 
polypeptide OTTMUSP00000033637 VEGA | MGI Sequence Detail 482 Not Applicable 

For the selected sequences
All sequences(38) RefSeq(6) UniProt(4)
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 domain
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(40)
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
08/25/2015
MGI 6.0
The Jackson Laboratory