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

    Gene ID: 1629, updated on 15-Jun-2019

    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
    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; 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

    Genomic context

    See DBT in Genome Data Viewer
    Location:
    1p21.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (100186922..100249864, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100652478..100715409, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene major facilitator superfamily domain containing 14A Neighboring gene SAS-6 centriolar assembly protein Neighboring gene tRNA methyltransferase 13 homolog Neighboring gene leucine rich repeat containing 39 Neighboring gene ribosomal protein L23a pseudogene 90 Neighboring gene brain protein I3 pseudogene 1 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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC9061

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    lipoic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    branched-chain amino acid catabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial alpha-ketoglutarate dehydrogenase complex TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    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_001909.3
    XP_005270602.1
    XP_016855957.1
    XP_016855958.1

    NCBI Reference Sequences (RefSeq)

    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_011852.2 RefSeqGene

      Range
      5001..67932
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001909.3

      Status: REVIEWED

      Source sequence(s)
      AK024946, AL445928, BC016675, DA274670
      Consensus CDS
      CCDS767.1
      UniProtKB/Swiss-Prot
      P11182
      Related
      ENSP00000359151.3, ENST00000370132.8
      Conserved Domains (1) summary
      cl27351
      Location:67482
      E3_binding; e3 binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      100186919..100249864 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270545.4XP_005270602.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005270602.1

      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
    2. XM_017000468.2XP_016855957.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform X1

      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
    3. XM_017000469.2XP_016855958.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform X1

      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_946560.3 RNA Sequence

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