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    DLAT dihydrolipoamide S-acetyltransferase [ Homo sapiens (human) ]

    Gene ID: 1737, updated on 25-May-2017
    Official Symbol
    DLATprovided by HGNC
    Official Full Name
    dihydrolipoamide S-acetyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:2896
    See related
    Ensembl:ENSG00000150768 MIM:608770; Vega:OTTHUMG00000133751
    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
    DLTA; PDCE2; PDC-E2
    Summary
    This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
    Orthologs
    Location:
    11q23.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (112024814..112064278)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111895538..111935002)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene HSPB2-C11orf52 readthrough (NMD candidate) Neighboring gene uncharacterized LOC105369494 Neighboring gene chromosome 11 open reading frame 52 Neighboring gene DIX domain containing 1 Neighboring gene RNA, U6 small nuclear 893, pseudogene Neighboring gene peptidylprolyl isomerase H pseudogene 1 Neighboring gene PIH1 domain containing 2 Neighboring gene chromosome 11 open reading frame 57 Neighboring gene translocase of inner mitochondrial membrane 8 homolog B Neighboring gene succinate dehydrogenase complex subunit D

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    acetyl-CoA biosynthetic process from pyruvate IEA
    Inferred from Electronic Annotation
    more info
     
    cellular nitrogen compound metabolic process TAS
    Traceable Author Statement
    more info
     
    glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    pyruvate metabolic process TAS
    Traceable Author Statement
    more info
     
    regulation of acetyl-CoA biosynthetic process from pyruvate TAS
    Traceable Author Statement
    more info
     
    sleep IEA
    Inferred from Electronic Annotation
    more info
     
    tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrial pyruvate dehydrogenase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    pyruvate dehydrogenase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
    Names
    70 kDa mitochondrial autoantigen of primary biliary cirrhosis
    E2 component of pyruvate dehydrogenase complex
    M2 antigen complex 70 kDa subunit
    PBC
    dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex
    pyruvate dehydrogenase complex component E2
    NP_001922.2
    XP_011540949.1

    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_013342.1 RefSeqGene

      Range
      5001..44465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001931.4NP_001922.2  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001922.2

      Status: REVIEWED

      Source sequence(s)
      AK057299, AW188637, BC039084
      Consensus CDS
      CCDS8354.1
      UniProtKB/Swiss-Prot
      P10515
      UniProtKB/TrEMBL
      Q86YI5
      Related
      ENSP00000280346.6, OTTHUMP00000165200, ENST00000280346.10, OTTHUMT00000258167
      Conserved Domains (4) summary
      cd06849
      Location:219293
      lipoyl_domain; Lipoyl domain of the dihydrolipoyl acyltransferase component (E2) of 2-oxo acid dehydrogenases. 2-oxo acid dehydrogenase multienzyme complexes, like pyruvate dehydrogenase (PDH), 2-oxoglutarate dehydrogenase (OGDH) and branched-chain 2-oxo acid ...
      TIGR01349
      Location:221647
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
      pfam00198
      Location:436647
      2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
      pfam02817
      Location:356389
      E3_binding; e3 binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      112024814..112064278
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542647.2XP_011540949.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform X1

      Conserved Domains (4) summary
      cd06849
      Location:219293
      lipoyl_domain; Lipoyl domain of the dihydrolipoyl acyltransferase component (E2) of 2-oxo acid dehydrogenases. 2-oxo acid dehydrogenase multienzyme complexes, like pyruvate dehydrogenase (PDH), 2-oxoglutarate dehydrogenase (OGDH) and branched-chain 2-oxo acid ...
      TIGR01349
      Location:221611
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
      pfam00198
      Location:419611
      2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
      pfam02817
      Location:356389
      E3_binding; e3 binding domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      111778793..111818192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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