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 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; chr1:100652478-100715409 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human DBT

Alleles and phenotypes

All alleles(10) : Targeted(4) Gene trapped(6)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (13 annotations)

Process	fatty-acyl-CoA biosynthetic process, metabolic process
Component	cytoplasm, microtubule cytoskeleton, ...
Function	cofactor binding, dihydrolipoyllysine-residue (2-methylpropanoyl)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 Type	Results
RNA in situ	96
RT-PCR	19

cDNA source data(84)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(86) cDNA(84) 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 Knockout Project Status	Dbt

Sequences

Length	Strain/Species
genomic	OTTMUSG00000027084	VEGA Gene Model | MGI Sequence Detail	36907	C57BL/6J
transcript	OTTMUST00000066974	VEGA | MGI Sequence Detail	3296	Not Applicable
polypeptide	OTTMUSP00000033637	VEGA | MGI Sequence Detail	482	Not Applicable

All sequences(27) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(149 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGD-MRK-33056, MGD-MRK-34214, MGI:106520