DBT Gene
protein-coding GIFtS: 66
GC01M100371
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dihydrolipoamide branched chain transacylase E2 (Previous name: dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease) ) Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases & Descriptions for DBT
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| BCATE2 2, 3, 5 | | E2 2, 3 | | E2B 2 | | EC 2.3.1.168 3 | | MGC9061 2 | | OTTHUMP00000012596 2 |
| | | Descriptions |
|---|
| BCKAD E2 subunit 2, 3 | | Dihydrolipoamide branched chain transacylase 2, 3 | | Dihydrolipoyllysine-residue (2-methylpropanoyl)transferase 2, 3 | E2 component of branched chain alpha-keto acid dehydrogenase complex 2 | | branched chain acyltransferase, E2 component 2 | dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease) 1 | | dihydrolipoamide branched chain transacylase E2 2 | | dihydrolipoyl transacylase 2 | lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex 2 | mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b) 2 |
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| | Search outside databases for aliases for DBT genePrevious GC identifers: GC01M101450 GC01M099840 GC01M099950 GC01M100122 |
Summaries for DBT(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for DBT: 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] UniProtKB/Swiss-Prot: ODB2_HUMAN, P11182Function: 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)Gene Wiki entry for DBT |
Genomic Location for DBT
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the DBT gene 
Entrez Gene cytogenetic band: 1p31 Ensembl cytogenetic band: 1p21.2 HGNC cytogenetic band: 1p31DBT Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M100371:
(about GC identifiers)
Start:
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100,425,066 bp from pter |
End:
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100,487,997 bp from pter |
Size:
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62,932 bases |
Orientation:
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minus strand |
RefSeq DNA sequence:- NC_000001.9 NT_032977.8
| Proteins for DBT
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ODB2_HUMAN, P11182 (See
protein sequence)Recommended Name: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial precursor Size: 482 amino acids; 53487 Da
Cofactor: Binds 1 lipoyl cofactor covalently
Subunit: Forms a 24-polypeptide structural core with octahedral symmetry
Subcellular location: Mitochondrion matrix
Miscellaneous: 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
PDB structures from and Proteopedia :1K8M (3D)
 1K8O (3D)
 1ZWV (3D)
 2COO (3D)
 
Secondary accessions: Q5VVL8REFSEQ proteins: NP_001909.2
ENSEMBL proteins: ENSP00000359151 ENSP00000359150
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: DBT 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for DBT: Assays for DBT: | Protein
Domains/ Families for DBT(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P11182
ProtoNet protein and cluster: P11182 4 Blocks protein families: IPB000089 Biotin/lipoyl attachment IPB001078 Catalytic domain of components of various dehydrogenase complexes IPB003016 2-oxo acid dehydrogenase IPB004167 E3 binding domain
UniProtKB/Swiss-Prot: ODB2_HUMAN, P11182Similarity: Belongs to the 2-oxoacid dehydrogenase familySimilarity: Contains 1 lipoyl-binding domain | Gene Function for DBT
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001918
Applied Biosystems Silencer® siRNAs for DBT
Sigma-Aldrich siRNA and siRNA Panels for DBT  Sigma-Aldrich shRNA for DBT  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001918                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001918                                  untagged cDNA clones in CMV expression vector (see all 2): NM_001918 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001918
UniProtKB/Swiss-Prot: ODB2_HUMAN, P11182Function: 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)Catalytic activity: 2-methylpropanoyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-(2-methylpropanoyl)dihydrolipoyl)lysineEnzyme Number (IUBMB): EC 2.3.1.168 Genatlas biochemistry entry for DBT:branched chain keto acid dehydrogenase complex,E2 component (dihydrolipoamide branched chain transacylase),inner mitochondrial membrane7 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Dbt):
5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
IEA | -- | | GO:0008415 | acyltransferase activity |
IEA | -- | | GO:0016740 | transferase activity |
IEA | -- | | GO:0031405 | lipoic acid binding |
IEA | -- | | GO:0043754 | dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity |
IEA | -- | About this table | Pathways & Interactions for DBT
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 5/9 Sigma-Aldrich "Your Favorite Gene" Pathways for DBT (Your Favorite Gene powered by Ingenuity) (see all 9
) 
Gene Network CentralTM Interacting Genes and Proteins Network for DBT 
5/27 Interacting proteins for DBT (ENSP000003591513 P111822) via UniProtKB, MINT, and/or STRING (see all 27
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008152 | metabolic process |
IEA | -- | | GO:0046949 | acyl-CoA biosynthetic process |
IEA | -- | About this table
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Drugs & Compounds for DBT(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for DBT 10 Novoseek chemical compound relationships for DBT gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dihydrolipoamide |
82.26 |
10 |
17314104 (1), 18206651 (1), 18533943 (1), 2004553 (1) (see all 6) |
| lysophospholipid |
70.46 |
2 |
15944408 (1) |
| mcat |
63.56 |
2 |
17604051 (1), 16112872 (1) |
| arachidonic acid |
56.04 |
7 |
1799879 (1), 1915836 (1), 15052324 (1), 1641397 (1) (see all 7) |
| phospholipid |
51.89 |
4 |
15052324 (1), 19416646 (1), 8463317 (1), 11525380 (1) |
| fatty acid |
47.64 |
3 |
16112872 (1), 11525380 (1), 15944408 (1) |
| pyruvate |
41.50 |
9 |
9242632 (2), 9619647 (1), 18206651 (1), 2010537 (1) (see all 5) |
| lysophosphatidylcholine |
36.70 |
1 |
7931340 (1) |
| lipid |
0.00 |
1 |
10101262 (1) |
| calcium |
0.00 |
1 |
9525960 (1) |
About this table
|
Transcripts for DBT(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001918
Sigma-Aldrich siRNA and siRNA Panels for DBT  Sigma-Aldrich shRNA for DBT  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_001918 REFSEQ mRNAs for DBT gene: NM_001918.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001918               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001918                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001918                                  untagged cDNA clones in CMV expression vector (see all 2): NM_001918  Additional cDNA sequence: AK024946.1 AK303941.1 AK313191.1 BC016675.1 BC030002.1 BT007372.1 J03208.1 M19301.1 M27093.1 X57677.1 X66785.1 10 DOTS entries: DT.203263 DT.412512 DT.100729322 DT.100809024 DT.300636 DT.40226816 DT.91756865 DT.92066752 DT.97793134 DT.99980376 24/68 AceView cDNA sequences (see all 68
):CD251695 CF139042 BM542879 AA872542 AL041514 BC016675 BP372275 BU156508 C01073 BC030002 AL041515 BE897186 AL598493 BM452811 CD652199 BP353059 AA423895 AA386388 X57677 BG477803 CD655295 BI258905 X66785 AI744652
highest scoring ESTs for DBT:M19301 AL598493 BC016675 BC030002 BE897186 BG399461 BI460289 BI597861 BM452811 BT007372 Unigene Cluster for DBT: Dihydrolipoamide branched chain transacylase E2 Hs.709187 [show with all ESTs]Unigene Representative Sequence: NM_001918
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for DBT
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11 | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | - |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for DBT
2 Ensembl transcripts including schematic representations: ENST00000370132
ENST00000370131
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Expression for DBT
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| DBT expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for DBT
1 / 2 / 3 15 probe-sets matching DBT gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CTTTTTCTCA
SOURCE GeneReport for Unigene cluster: Hs.709187
Expression variation in blood from EXPOLDB for DBT |
Orthologs for DBT
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for DBT gene from 5/18 species (see all 18
)
About this table Species with no ortholog for DBT
ENSEMBL Gene Tree for DBT | Paralogs for DBT(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for DBT gene
- PDHX2 DLAT2
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SNPs/Variants for DBT(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
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HapMap Linkage Disequilibrium images for DBT (up to first 250kb)
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Disorders & Mutations for DBT
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 248610 disorders: 248600 UniProtKB/Swiss-Prot: ODB2_HUMAN, P11182
Defects in DBT are the cause of maple syrup urine disease type 2 (MSUD2) [MIM:248600]. MSUD is an autosomal recessive disorder characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine2 Novoseek disease relationships for DBT gene
About this table
Genatlas disease: DBT maple syrup urine disease GeneTests: DBT Maple Syrup Urine Disease Human Gene Mutation Database: DBT Genetic Association Database: DBT
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Medical News for DBT(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for DBT (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/92 PubMed articles for DBT gene (see all 92
):- Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene. (PubMed id 1429740)1, 2, 3, 4 Lau K.S....Chuang D.T. (1992)
- The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex. (PubMed id 1420314)1, 2, 3, 4 Lau K.S....Chuang D.T. (1992)
- 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. (PubMed id 1847055)1, 3, 4 Fisher C.W.... Chuang D.T. (1991)
- Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. (PubMed id 9621512)1, 3, 4 Tsuruta M.... Indo Y. (1998)
- Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex. (PubMed id 11839747)1, 3, 4 Chang C.-F.... Huang T.-H. (2002)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N- terminal proline in the rat sequence. (PubMed id 7918575)3, 4 Wynn R.M.... Chuang D.T. (1994)
- Construction and nucleotide sequence of a cDNA encoding the full- length preprotein for human branched chain acyltransferase. (PubMed id 2708389)3, 4 Danner D.J.... Pruckler J. (1989)
- Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex. (PubMed id 2742576)3, 4 Nobukuni Y.... Matsuda I. (1989)
- Conservation of primary structure in the lipoyl-bearing and dihydrolipoyl dehydrogenase binding domains of mammalian branched- chain alpha-keto acid dehydrogenase complex: molecular cloning of human and bovine transacylase (E2) cDNAs. (PubMed id 2837277)3, 4 Lau K.S.... Chuang D.T. (1988)
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Search for DBT
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing DBT
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing DBT
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DBT(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=DBT |
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| Services for DBT(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
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 Products for DBT:

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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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