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

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

    Summary

    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
    NEW
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    Genomic context

    See DBT in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001399969.1NP_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_001399972.1NP_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_001918.5NP_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:67482
      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_017000468.3XP_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:2293
      PRK11857; dihydrolipoamide acetyltransferase; Reviewed
      pfam00198
      Location:86298
      2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
      pfam02817
      Location:224
      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)