Human Gene DBT (ENST00000370132.8_7) from GENCODE V47lift37
  Description: dihydrolipoamide branched chain transacylase E2, transcript variant 7 (from RefSeq NR_174366.1)
Gencode Transcript: ENST00000370132.8_7
Gencode Gene: ENSG00000137992.15_10
Transcript (Including UTRs)
   Position: hg19 chr1:100,652,475-100,715,390 Size: 62,916 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr1:100,661,811-100,715,376 Size: 53,566 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:100,652,475-100,715,390)mRNA (may differ from genome)Protein (482 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ODB2_HUMAN
DESCRIPTION: RecName: Full=Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial; EC=2.3.1.168; AltName: Full=Branched-chain alpha-keto acid dehydrogenase complex component E2; Short=BCKAD-E2; Short=BCKADE2; AltName: Full=Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex; AltName: Full=Dihydrolipoamide branched chain transacylase; AltName: Full=Dihydrolipoyllysine-residue (2-methylpropanoyl)transferase; Flags: Precursor;
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).
CATALYTIC ACTIVITY: 2-methylpropanoyl-CoA + enzyme N(6)- (dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-(2- methylpropanoyl)dihydrolipoyl)lysine.
COFACTOR: Binds 1 lipoyl cofactor covalently.
SUBUNIT: Forms a 24-polypeptide structural core with octahedral symmetry.
SUBCELLULAR LOCATION: Mitochondrion matrix.
DISEASE: 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 urine.
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.
SIMILARITY: Belongs to the 2-oxoacid dehydrogenase family.
SIMILARITY: Contains 1 lipoyl-binding domain.
SEQUENCE CAUTION: Sequence=AAA35589.1; Type=Erroneous initiation; Sequence=AAA64512.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DBT";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DBT
Diseases sorted by gene-association score: maple syrup urine disease, type ii* (968), intermediate maple syrup urine disease* (175), primary biliary cirrhosis (33), atrophy of testis (17), autoimmune disease of urogenital tract (9)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.60 RPKM in Adrenal Gland
Total median expression: 138.10 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -2791.179336-0.299 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003016 - 2-oxoA_DH_lipoyl-BS
IPR001078 - 2-oxoacid_DH_actylTfrase
IPR000089 - Biotin_lipoyl
IPR023213 - CAT-like_dom
IPR004167 - E3-bd
IPR015761 - Lip_Acyl_TA
IPR011053 - Single_hybrid_motif

Pfam Domains:
PF00198 - 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
PF00364 - Biotin-requiring enzyme
PF02817 - e3 binding domain

SCOP Domains:
47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
51230 - Single hybrid motif
52777 - CoA-dependent acyltransferases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1K8M - NMR MuPIT 1K8O - NMR MuPIT 1ZWV - NMR MuPIT 2COO - NMR MuPIT 3RNM - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P11182
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0031625 ubiquitin protein ligase binding
GO:0043754 dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity

Biological Process:
GO:0008152 metabolic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex
GO:0042645 mitochondrial nucleoid


-  Descriptions from all associated GenBank mRNAs
  AK303941 - Homo sapiens cDNA FLJ57294 complete cds, highly similar to Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial precursor (EC 2.3.1.168).
X66785 - H.sapiens mRNA for transacylase (DBT).
M27093 - Homo sapiens nuclear-encoded mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b) mRNA, complete cds.
BC016675 - Homo sapiens dihydrolipoamide branched chain transacylase E2, mRNA (cDNA clone MGC:9061 IMAGE:3924492), complete cds.
BC030002 - Homo sapiens dihydrolipoamide branched chain transacylase E2, mRNA (cDNA clone IMAGE:3924372).
J03208 - Human branched chain acyltransferase mRNA, complete cds.
E05931 - cDNA encoding human BCKDH-E-2.
AK313191 - Homo sapiens cDNA, FLJ93690, Homo sapiens dihydrolipoamide branched chain transacylase (E2component of branched chain keto acid dehydrogenase complex; maplesyrup urine disease) (DBT), mRNA.
BT007372 - Homo sapiens dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease) mRNA, complete cds.
JD047630 - Sequence 28654 from Patent EP1572962.
AK024946 - Homo sapiens cDNA: FLJ21293 fis, clone COL01972.
JD369144 - Sequence 350168 from Patent EP1572962.
JD117523 - Sequence 98547 from Patent EP1572962.
JD457021 - Sequence 438045 from Patent EP1572962.
JD413748 - Sequence 394772 from Patent EP1572962.
JD213076 - Sequence 194100 from Patent EP1572962.
JD463108 - Sequence 444132 from Patent EP1572962.
JD185143 - Sequence 166167 from Patent EP1572962.
JD533846 - Sequence 514870 from Patent EP1572962.
JD542919 - Sequence 523943 from Patent EP1572962.
JD165231 - Sequence 146255 from Patent EP1572962.
JD367502 - Sequence 348526 from Patent EP1572962.
JD213075 - Sequence 194099 from Patent EP1572962.
JD337587 - Sequence 318611 from Patent EP1572962.
JD463107 - Sequence 444131 from Patent EP1572962.
JD179064 - Sequence 160088 from Patent EP1572962.
JD421446 - Sequence 402470 from Patent EP1572962.
JD514910 - Sequence 495934 from Patent EP1572962.
JD179063 - Sequence 160087 from Patent EP1572962.
JD075003 - Sequence 56027 from Patent EP1572962.
JD075002 - Sequence 56026 from Patent EP1572962.
JD253886 - Sequence 234910 from Patent EP1572962.
JD466971 - Sequence 447995 from Patent EP1572962.
JD038716 - Sequence 19740 from Patent EP1572962.
JD558792 - Sequence 539816 from Patent EP1572962.
JD315172 - Sequence 296196 from Patent EP1572962.
JD388450 - Sequence 369474 from Patent EP1572962.
JD265814 - Sequence 246838 from Patent EP1572962.
JD324393 - Sequence 305417 from Patent EP1572962.
JD518087 - Sequence 499111 from Patent EP1572962.
JD364587 - Sequence 345611 from Patent EP1572962.
JD518086 - Sequence 499110 from Patent EP1572962.
JD149487 - Sequence 130511 from Patent EP1572962.
JD149488 - Sequence 130512 from Patent EP1572962.
JD230062 - Sequence 211086 from Patent EP1572962.
JD269631 - Sequence 250655 from Patent EP1572962.
JD050839 - Sequence 31863 from Patent EP1572962.
JD185432 - Sequence 166456 from Patent EP1572962.
JD221969 - Sequence 202993 from Patent EP1572962.
JD230063 - Sequence 211087 from Patent EP1572962.
JD269632 - Sequence 250656 from Patent EP1572962.
JD281984 - Sequence 263008 from Patent EP1572962.
JD364588 - Sequence 345612 from Patent EP1572962.
JD451527 - Sequence 432551 from Patent EP1572962.
JD534427 - Sequence 515451 from Patent EP1572962.
JD097435 - Sequence 78459 from Patent EP1572962.
JD120896 - Sequence 101920 from Patent EP1572962.
JD456438 - Sequence 437462 from Patent EP1572962.
JD335092 - Sequence 316116 from Patent EP1572962.
JD442789 - Sequence 423813 from Patent EP1572962.
JD532184 - Sequence 513208 from Patent EP1572962.
JD430890 - Sequence 411914 from Patent EP1572962.
JD380582 - Sequence 361606 from Patent EP1572962.
JD201403 - Sequence 182427 from Patent EP1572962.
JD120895 - Sequence 101919 from Patent EP1572962.
JD335091 - Sequence 316115 from Patent EP1572962.
JD430889 - Sequence 411913 from Patent EP1572962.
JD501601 - Sequence 482625 from Patent EP1572962.
JD558235 - Sequence 539259 from Patent EP1572962.
JD522236 - Sequence 503260 from Patent EP1572962.
JD558236 - Sequence 539260 from Patent EP1572962.
JD564286 - Sequence 545310 from Patent EP1572962.
JD151643 - Sequence 132667 from Patent EP1572962.
JD556282 - Sequence 537306 from Patent EP1572962.
JD128089 - Sequence 109113 from Patent EP1572962.
JD179776 - Sequence 160800 from Patent EP1572962.
JD222766 - Sequence 203790 from Patent EP1572962.
JD481450 - Sequence 462474 from Patent EP1572962.
JD322058 - Sequence 303082 from Patent EP1572962.
JD117132 - Sequence 98156 from Patent EP1572962.
JD077156 - Sequence 58180 from Patent EP1572962.
JD349347 - Sequence 330371 from Patent EP1572962.
JD295258 - Sequence 276282 from Patent EP1572962.
JD265578 - Sequence 246602 from Patent EP1572962.
JD511070 - Sequence 492094 from Patent EP1572962.
JD349007 - Sequence 330031 from Patent EP1572962.
JD491493 - Sequence 472517 from Patent EP1572962.
JD486217 - Sequence 467241 from Patent EP1572962.
JD091374 - Sequence 72398 from Patent EP1572962.
JD299440 - Sequence 280464 from Patent EP1572962.
JD134983 - Sequence 116007 from Patent EP1572962.
JD517652 - Sequence 498676 from Patent EP1572962.
JD352112 - Sequence 333136 from Patent EP1572962.
JD448529 - Sequence 429553 from Patent EP1572962.
JD332498 - Sequence 313522 from Patent EP1572962.
JD175995 - Sequence 157019 from Patent EP1572962.
JD531570 - Sequence 512594 from Patent EP1572962.
JD112506 - Sequence 93530 from Patent EP1572962.
JD446871 - Sequence 427895 from Patent EP1572962.
JD422073 - Sequence 403097 from Patent EP1572962.
JD099709 - Sequence 80733 from Patent EP1572962.
JD566102 - Sequence 547126 from Patent EP1572962.
X57677 - H.sapiens mRNA for transacylase, partial.
M19301 - Human branched-chain alpha-keto acid dehydrogenase (E2) mRNA, complete cds.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
ILEUDEG-PWY - L-isoleucine degradation
LEU-DEG2-PWY - L-leucine degradation
PWY-5046 - 2-oxoisovalerate decarboxylation to isobutanoyl-CoA
PWY-5130 - 2-oxobutanoate degradation
PWY-5328 - superpathway of methionine degradation
PWY66-428 - L-threonine degradation
VALDEG-PWY - L-valine degradation

Reactome (by CSHL, EBI, and GO)

Protein P11182 (Reactome details) participates in the following event(s):

R-HSA-5693148 BCKDK phosphorylates BCKDH
R-HSA-5693153 PPM1K dephosphorylates p-BCKDH
R-HSA-6792572 LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs
R-HSA-70713 BCKDH transfers CoA group from CoA-SH to BCAAs
R-HSA-70895 Branched-chain amino acid catabolism
R-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2R811, BCATE2, BCKDHE2 , DBT , ENST00000370132.1, ENST00000370132.2, ENST00000370132.3, ENST00000370132.4, ENST00000370132.5, ENST00000370132.6, ENST00000370132.7, NR_174366, ODB2_HUMAN, P11182, Q5VVL8, uc318idc.1, uc318idc.2
UCSC ID: ENST00000370132.8_7
RefSeq Accession: NM_001918.5
Protein: P11182 (aka ODB2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DBT:
msud (Maple Syrup Urine Disease)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.