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    Dlat dihydrolipoamide S-acetyltransferase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 81654, updated on 9-Dec-2024

    Summary

    Official Symbol
    Dlatprovided by RGD
    Official Full Name
    dihydrolipoamide S-acetyltransferaseprovided by RGD
    Primary source
    RGD:619859
    See related
    EnsemblRapid:ENSRNOG00000009994 AllianceGenome:RGD:619859
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables dihydrolipoyllysine-residue acetyltransferase activity. Involved in acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. Part of pyruvate dehydrogenase complex. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human DLAT (dihydrolipoamide S-acetyltransferase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Heart (RPKM 1086.2), Muscle (RPKM 713.9) and 9 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Dlat in Genome Data Viewer
    Location:
    8q23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (59875537..59900947, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (50979151..51004435, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (55062549..55087832, complement)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene translocase of inner mitochondrial membrane 8 homolog B Neighboring gene NKAP domain containing 1 Neighboring gene PIH1 domain containing 2 Neighboring gene DIX domain containing 1 Neighboring gene uncharacterized LOC120094337 Neighboring gene similar to human chromosome 11 open reading frame 52

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in acetyl-CoA biosynthetic process from pyruvate IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in acetyl-CoA biosynthetic process from pyruvate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in acetyl-CoA biosynthetic process from pyruvate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in acetyl-CoA biosynthetic process from pyruvate ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tricarboxylic acid cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    part_of pyruvate dehydrogenase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of pyruvate dehydrogenase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of pyruvate dehydrogenase complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of pyruvate dehydrogenase complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of pyruvate dehydrogenase complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
    Names
    70 kDa mitochondrial autoantigen of primary biliary cirrhosis
    E2
    PBC
    PDC-E2
    PDCE2
    dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)
    dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex
    pyruvate dehydrogenase complex component E2
    NP_112287.1
    XP_063122274.1

    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.

    mRNA and Protein(s)

    1. NM_031025.1NP_112287.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial

      See identical proteins and their annotated locations for NP_112287.1

      Status: PROVISIONAL

      Source sequence(s)
      BC107440
      UniProtKB/Swiss-Prot
      P08461, Q3B7V7
      UniProtKB/TrEMBL
      A0A8I6B5J2, A6J4E7
      Related
      ENSRNOP00000103252.1, ENSRNOT00000148798.1
      Conserved Domains (4) summary
      cd06849
      Location:209283
      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:211632
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
      pfam00198
      Location:421632
      2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
      pfam02817
      Location:342375
      E3_binding; e3 binding domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086026.1 Reference GRCr8

      Range
      59875537..59900947 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063266204.1XP_063122274.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform X1