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Aliases for DBT Gene

Aliases for DBT Gene

  • Dihydrolipoamide Branched Chain Transacylase E2 2 3
  • BCATE2 3 4 6
  • Dihydrolipoamide Acetyltransferase Component Of Branched-Chain Alpha-Keto Acid Dehydrogenase Complex 3 4
  • Branched-Chain Alpha-Keto Acid Dehydrogenase Complex Component E2 3 4
  • 52 KDa Mitochondrial Autoantigen Of Primary Biliary Cirrhosis 3 4
  • Branched Chain 2-Oxo-Acid Dehydrogenase Complex Component E2 3 4
  • Dihydrolipoyllysine-Residue (2-Methylpropanoyl)Transferase 3 4
  • BCOADC-E2 3 4
  • BCKAD-E2 3 4
  • BCKADE2 3 4
  • Dihydrolipoamide Branched Chain Transacylase (E2 Component Of Branched Chain Keto Acid Dehydrogenase Complex; Maple Syrup Urine Disease) 2
  • Lipoamide Acyltransferase Component Of Branched-Chain Alpha-Keto Acid Dehydrogenase Complex, Mitochondrial 3
  • Lipoamide Acyltransferase Component Of Mitochondrial Branched-Chain Alpha-Keto Acid Dehydrogenase Complex 3
  • Mitochondrial Branched Chain Alpha-Keto Acid Dehydrogenase Transacylase Subunit (E2b) 3
  • E2 Component Of Branched Chain Alpha-Keto Acid Dehydrogenase Complex 3
  • Branched Chain Acyltransferase, E2 Component 3
  • Dihydrolipoamide Branched Chain Transacylase 4
  • Dihydrolipoyl Transacylase 3
  • BCKAD E2 Subunit 3
  • EC 2.3.1.168 4
  • E2B 3
  • E2 3

External Ids for DBT Gene

Summaries for DBT Gene

Entrez Gene Summary for DBT Gene

  • The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for DBT Gene

DBT (Dihydrolipoamide Branched Chain Transacylase E2) is a Protein Coding gene. Diseases associated with DBT include atrophy of testis and barth syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include cofactor binding and dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity. An important paralog of this gene is DLAT.

UniProtKB/Swiss-Prot for DBT Gene

  • The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component

Gene Wiki entry for DBT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DBT Gene

Genomics for DBT Gene

Genomic Location for DBT Gene

Start:
100,186,919 bp from pter
End:
100,249,853 bp from pter
Size:
62,935 bases
Orientation:
Minus strand

Genomic View for DBT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DBT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DBT Gene

Regulatory Elements for DBT Gene

Proteins for DBT Gene

  • Protein details for DBT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11182-ODB2_HUMAN
    Recommended name:
    Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
    Protein Accession:
    P11182
    Secondary Accessions:
    • B2R811
    • Q5VVL8

    Protein attributes for DBT Gene

    Size:
    482 amino acids
    Molecular mass:
    53487 Da
    Cofactor:
    Name=(R)-lipoate; Xref=ChEBI:CHEBI:83088; Note=Binds 1 lipoyl cofactor covalently.;
    Quaternary structure:
    • Forms a 24-polypeptide structural core with octahedral symmetry
    SequenceCaution:
    • Sequence=AAA35589.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAA64512.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DBT Gene

neXtProt entry for DBT Gene

Proteomics data for DBT Gene at MOPED

Post-translational modifications for DBT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DBT Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DBT Gene

Domains for DBT Gene

UniProtKB/Swiss-Prot:

ODB2_HUMAN
Domain:
  • Contains 1 lipoyl-binding domain.:
    • P11182
Family:
  • Belongs to the 2-oxoacid dehydrogenase family.:
    • P11182
genes like me logo Genes that share domains with DBT: view

No data available for Gene Families for DBT Gene

Function for DBT Gene

Molecular function for DBT Gene

GENATLAS Biochemistry: branched chain keto acid dehydrogenase complex,E2 component (dihydrolipoamide branched chain transacylase),inner mitochondrial membrane
UniProtKB/Swiss-Prot CatalyticActivity: 2-methylpropanoyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-(2-methylpropanoyl)dihydrolipoyl)lysine
UniProtKB/Swiss-Prot Function: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component

Enzyme Numbers (IUBMB) for DBT Gene

Gene Ontology (GO) - Molecular Function for DBT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016746 transferase activity, transferring acyl groups --
GO:0031625 ubiquitin protein ligase binding IPI 19725078
GO:0043754 dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity IEA --
genes like me logo Genes that share ontologies with DBT: view
genes like me logo Genes that share phenotypes with DBT: view

Animal Models for DBT Gene

MGI Knock Outs for DBT:

miRNA for DBT Gene

No data available for Transcription Factor Targeting and HOMER Transcription for DBT Gene

Localization for DBT Gene

Subcellular locations from UniProtKB/Swiss-Prot for DBT Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DBT Gene COMPARTMENTS Subcellular localization image for DBT gene
Compartment Confidence
mitochondrion 5
cytoskeleton 4
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for DBT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex TAS 1429740
GO:0042645 mitochondrial nucleoid IDA 18063578
genes like me logo Genes that share ontologies with DBT: view

Pathways for DBT Gene

genes like me logo Genes that share pathways with DBT: view

Gene Ontology (GO) - Biological Process for DBT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with DBT: view

Compounds for DBT Gene

(38) HMDB Compounds for DBT Gene

Compound Synonyms Cas Number PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate Coenzyme A
10018-95-8
(2E)-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-CoA
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
38795-33-4

(14) Novoseek inferred chemical compound relationships for DBT Gene

Compound -log(P) Hits PubMed IDs
dihydrolipoamide 81.4 6
lysophospholipid 68.7 1
mcat 61.9 2
arachidonic acid 56.4 8
fatty acid 54.1 3
genes like me logo Genes that share compounds with DBT: view

Transcripts for DBT Gene

Unigene Clusters for DBT Gene

Dihydrolipoamide branched chain transacylase E2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DBT Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11
SP1: - -
SP2:

Relevant External Links for DBT Gene

GeneLoc Exon Structure for
DBT
ECgene alternative splicing isoforms for
DBT

Expression for DBT Gene

mRNA expression in normal human tissues for DBT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DBT Gene

SOURCE GeneReport for Unigene cluster for DBT Gene Hs.709187

genes like me logo Genes that share expressions with DBT: view

Orthologs for DBT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DBT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DBT 36
  • 99.72 (n)
  • 99.79 (a)
DBT 37
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DBT 36
  • 91.98 (n)
  • 92.12 (a)
DBT 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DBT 36
  • 91.84 (n)
  • 91.49 (a)
DBT 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dbt 36
  • 84.99 (n)
  • 87.97 (a)
Dbt 16
Dbt 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DBT 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 80 (a)
OneToMany
-- 37
  • 73 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dbt 36
  • 84.37 (n)
  • 87.76 (a)
chicken
(Gallus gallus)
Aves DBT 36
  • 76.14 (n)
  • 76.56 (a)
DBT 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DBT 37
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32258 36
tropical clawed frog
(Silurana tropicalis)
Amphibia dbt 36
  • 68.06 (n)
  • 76.25 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.91 36
zebrafish
(Danio rerio)
Actinopterygii dbt 36
  • 65.76 (n)
  • 71.34 (a)
dbt 37
  • 70 (a)
OneToOne
Dr.13649 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000549 36
  • 51.3 (n)
  • 54.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5599 36
  • 54.55 (n)
  • 53.01 (a)
CG5599 37
  • 48 (a)
OneToOne
CG5599 38
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK669.4 36
  • 57.26 (n)
  • 57.18 (a)
ZK669.4 37
  • 55 (a)
OneToOne
ZK669.4 38
  • 54 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KGD2 37
  • 19 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons BCE2 36
  • 53.32 (n)
  • 42.51 (a)
rice
(Oryza sativa)
Liliopsida Os01g0314100 36
  • 54.11 (n)
  • 44.09 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02704 36
  • 51.93 (n)
  • 48.89 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 47 (a)
OneToOne
Species with no ortholog for DBT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DBT Gene

ENSEMBL:
Gene Tree for DBT (if available)
TreeFam:
Gene Tree for DBT (if available)

Paralogs for DBT Gene

Paralogs for DBT Gene

Pseudogenes.org Pseudogenes for DBT Gene

genes like me logo Genes that share paralogs with DBT: view

Variants for DBT Gene

Sequence variations from dbSNP and Humsavar for DBT Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs14964 -- 100,213,503(+) CCNAC(A/T)CTATC intron-variant
rs1055938 -- 100,196,157(-) GTAAA(C/T)GATTT utr-variant-3-prime
rs1141149 -- 100,194,483(-) gcaca(C/G)gcctg utr-variant-3-prime
rs1141150 -- 100,194,361(-) cactt(C/T)gtctc utr-variant-3-prime
rs2210835 -- 100,195,828(-) aatta(C/G)ccggg utr-variant-3-prime, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for DBT Gene

Variant ID Type Subtype PubMed ID
nsv830804 CNV Gain 17160897
esv2715318 CNV Deletion 23290073
esv2715329 CNV Deletion 23290073
esv2715340 CNV Deletion 23290073
esv2715351 CNV Deletion 23290073

Relevant External Links for DBT Gene

HapMap Linkage Disequilibrium report
DBT
Human Gene Mutation Database (HGMD)
DBT

Disorders for DBT Gene

(1) OMIM Diseases for DBT Gene (248610)

UniProtKB/Swiss-Prot

ODB2_HUMAN
  • Note=Patients with primary biliary cirrhosis (PBC) show autoantibodies against the E2 component of branched-chain alpha-keto acid dehydrogenase complex. PBC is a chronic, progressive cholestatic liver disease characterized by the presence of antimitochondrial autoantibodies in patients serum. It manifests with inflammatory obliteration of intra-hepatic bile duct, leading to liver cell damage and cirrhosis. {ECO:0000269 PubMed:2908870, ECO:0000269 PubMed:7543435, ECO:0000269 PubMed:9141421}.
  • Maple syrup urine disease 2 (MSUD2) [MIM:248600]: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. {ECO:0000269 PubMed:1847055, ECO:0000269 PubMed:9621512}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for DBT Gene

(2) Novoseek inferred disease relationships for DBT Gene

Disease -log(P) Hits PubMed IDs
maple syrup urine disease 92.9 10
tuberculosis 0 2

Genatlas disease for DBT Gene

Maple Syrup Urine Disease

Relevant External Links for DBT

GeneTests
DBT
GeneReviews
DBT
Genetic Association Database (GAD)
DBT
Human Genome Epidemiology (HuGE) Navigator
DBT
genes like me logo Genes that share disorders with DBT: view

Publications for DBT Gene

  1. The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex. (PMID: 1420314) Lau K.S. … Chuang D.T. (Biochim. Biophys. Acta 1992) 2 3 4 23
  2. Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene. (PMID: 1429740) Lau K.S. … Chuang D.T. (J. Biol. Chem. 1992) 2 3 4 23
  3. A 17-bp insertion and a Phe215-->Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34. (PMID: 1847055) Fisher C.W. … Chuang D.T. (Biochem. Biophys. Res. Commun. 1991) 3 4 23
  4. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. (PMID: 9621512) Tsuruta M. … Indo Y. (J. Hum. Genet. 1998) 3 4 23
  5. Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex. (PMID: 11839747) Chang C.-F. … Huang T.-H. (J. Biol. Chem. 2002) 3 4 23

Products for DBT Gene

Sources for DBT Gene

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