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

    Gene ID: 1629, updated on 10-Dec-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
    mouse all
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    Genomic context

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    See DBT in Genome Data Viewer
    Location:
    1p21.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (100186919..100249834, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (100035014..100097802, complement)
    RS_2024_09 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. 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
    2. Mitochondrial import and processing of an in vitro synthesized human prebranched chain acyltransferase fragment. Litwer S, et al. Am J Hum Genet, 1988 Nov. PMID 3189339, Free PMC Article
    3. Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects. Chuang DT, et al. Biochem J, 1981 Oct 15. PMID 6895847, Free PMC Article
    4. Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region. Mitsubuchi H, et al. J Clin Invest, 1991 Apr. PMID 2010537, Free PMC Article
    5. Premature termination of transcription and alternative splicing in the human transacylase (E2) gene of the branched-chain alpha-ketoacid dehydrogenase complex. Lau KS, et al. FEBS Lett, 1991 Feb 25. PMID 2001734

    See all (118) 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)

    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
    		  
    enables acyltransferase activity, transferring groups other than amino-acyl groups TAS
    Traceable Author Statement
    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 
    involved_in branched-chain amino acid catabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    part_of branched-chain alpha-ketoacid dehydrogenase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 
    located_in mitochondrion HTP 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
      UniProtKB/TrEMBL
      A0A7P0Z494
      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_2024_08

    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
    P11182.4 GenPept UniProtKB/Swiss-Prot:P11182

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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