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DBT dihydrolipoamide branched chain transacylase E2 [ Homo sapiens (human) ]

Gene ID: 1629, updated on 11-Apr-2024

Summary

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Official Symbol
DBTprovided by HGNC
Official Full Name
dihydrolipoamide branched chain transacylase E2provided by HGNC
Primary source
HGNC:HGNC:2698
See related
Ensembl:ENSG00000137992 MIM:248610; AllianceGenome:HGNC:2698
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
E2; E2B; BCATE2; BCKADE2; BCKAD-E2; BCKDH-E2; BCOADC-E2
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 5.8), thyroid (RPKM 4.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p21.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (100186919..100249834, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (100035014..100097802, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100652475..100715390, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SAS-6 centriolar assembly protein Neighboring gene ReSE screen-validated silencer GRCh37_chr1:100578889-100579078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1373 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:100598108-100598271 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:100598267-100598869 Neighboring gene Sharpr-MPRA regulatory region 13340 Neighboring gene tRNA methyltransferase 13 homolog Neighboring gene leucine rich repeat containing 39 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:100665653-100666490 Neighboring gene ribosomal protein L23a pseudogene 90 Neighboring gene brain protein I3 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:100708816-100709049 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:100714559-100715118 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:100715119-100715678 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:100731463-100732012 Neighboring gene RTCA antisense RNA 1 Neighboring gene RNA 3'-terminal phosphate cyclase Neighboring gene microRNA 553

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Overexpression of DBT suppresses the aggressiveness of renal clear cell carcinoma and correlates with immune infiltration. Zhang C, et al. Front Immunol, 2023. PMID 37383233, Free PMC Article
  2. Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier. Alijanpour M, et al. Lab Med, 2022 Nov 3. PMID 35657820
  3. Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation. Brodtkorb E, et al. Mol Genet Metab, 2010 Aug. PMID 20570198
  4. Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection. Silao CL, et al. Pediatr Int, 2008 Jun. PMID 18533943
  5. Structure of the subunit binding domain and dynamics of the di-domain region from the core of human branched chain alpha-ketoacid dehydrogenase complex. Chang CF, et al. J Biol Chem, 2006 Sep 22. PMID 16861235

See all (109) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Overexpression of DBT suppresses the aggressiveness of renal clear cell carcinoma and correlates with immune infiltration.
    Title: Overexpression of DBT suppresses the aggressiveness of renal clear cell carcinoma and correlates with immune infiltration.
  2. Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.
    Title: Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.
  3. Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.
    Title: Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.
  4. The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved.
    Title: Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan.
  5. Deletion in DBT gene is associated with maple syrup urine disease.
    Title: Molecular characterization of maple syrup urine disease patients from Tunisia.
  6. 4 novel mutations in DBT gene resulting in intermittent maple syrup urine disease in 7 Norwegian patients; pathogenic effect of the mutations is depletion of cellular protein; intermittent form of MSUD appears to be due to residual R301C mutant protein
    Title: Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  8. In 37% (12 patients) of a total of 64 alleles, the supposed maple syrup urine disease-causing mutations in Turkish patients were located in the BCKDHA gene, in 44% (14 patients) in the BCKDHB gene and in 19% (6 patients) in the DBT gene.
    Title: Molecular genetics of maple syrup urine disease in the Turkish population.
  9. 30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA, 5 in BCKDHB and 6 in DBT); 7 of are described for the first time.
    Title: Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
  10. Examination of the deletion mutation in the E2 (DBT) gene facilitated early MSUD diagnosis and was beneficial for the determination of the proper course of treatment.
    Title: Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Maple syrup urine disease type 2
MedGen: C1855371 OMIM: 620699 GeneReviews: Maple Syrup Urine Disease
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC9061

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to branched-chain alpha-keto acid dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity IEA
Inferred from Electronic Annotation
more info
  
enables lipoic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in branched-chain amino acid catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
  
located_in mitochondrial matrix NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
part_of oxoglutarate dehydrogenase complex TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
Names
52 kDa mitochondrial autoantigen of primary biliary cirrhosis
BCKAD E2 subunit
E2 component of branched chain alpha-keto acid dehydrogenase complex
branched chain 2-oxo-acid dehydrogenase complex component E2
branched chain acyltransferase, E2 component
branched-chain alpha-keto acid dehydrogenase complex component E2
dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex
dihydrolipoyl transacylase
dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex
mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b)
NP_001386898.1
NP_001386901.1
NP_001909.4
XP_016855957.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011852.3 RefSeqGene

    Range
    5000..67915
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001399969.1 → NP_001386898.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL445928
    Consensus CDS
    CCDS91012.1
    UniProtKB/TrEMBL
    A0A7P0T9W1
    Related
    ENSP00000505780.1, ENST00000681780.1

  2. NM_001399972.1 → NP_001386901.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL445928
    Consensus CDS
    CCDS91012.1
    UniProtKB/TrEMBL
    A0A7P0T9W1

  3. NM_001918.5 → NP_001909.4  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AK024946, AL445928, BC016675, DA274670
    Consensus CDS
    CCDS767.1
    UniProtKB/Swiss-Prot
    B2R811, P11182, Q5VVL8
    Related
    ENSP00000359151.3, ENST00000370132.8
    Conserved Domains (1) summary
    PLN02528
    Location:67 → 482
    PLN02528; 2-oxoisovalerate dehydrogenase E2 component

RNA

  1. NR_174363.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445928

  2. NR_174364.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445928

  3. NR_174365.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445928

  4. NR_174366.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445928

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    100186919..100249834 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000468.3 → XP_016855957.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A7P0T9W1
    Conserved Domains (3) summary
    PRK11857
    Location:2 → 293
    PRK11857; dihydrolipoamide acetyltransferase; Reviewed
    pfam00198
    Location:86 → 298
    2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
    pfam02817
    Location:2 → 24
    E3_binding; e3 binding domain

RNA

  1. XR_007095647.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    100035014..100097802 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P11182.3 GenPept UniProtKB/Swiss-Prot:P11182

Gene LinkOut

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