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    DLST dihydrolipoamide S-succinyltransferase [ Homo sapiens (human) ]

    Gene ID: 1743, updated on 26-Sep-2021

    Summary

    Official Symbol
    DLSTprovided by HGNC
    Official Full Name
    dihydrolipoamide S-succinyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:2911
    See related
    Ensembl:ENSG00000119689 MIM:126063
    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
    DLTS; KGD2; PGL7
    Summary
    This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Ubiquitous expression in kidney (RPKM 40.7), heart (RPKM 35.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See DLST in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (74881913..74903743)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (75348619..75370446)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370569 Neighboring gene prospero homeobox 2 Neighboring gene methyltransferase 5, N6-adenosine pseudogene Neighboring gene HNF4 motif-containing MPRA enhancer 140 Neighboring gene ribosomal protein S6 kinase like 1 Neighboring gene uncharacterized LOC107984689 Neighboring gene placental growth factor

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Paragangliomas 7
    MedGen: C5193116 OMIM: 618475 GeneReviews: Not available
    Compare labs
    Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
    GeneReviews: Not available

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of dihydrolipoamide S-succinyltransferase (DLST) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides upregulate gene expression of dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) in U-937 macrophages PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of dihydrolipoamide S-succinyltransferase (DLST) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables dihydrolipoyllysine-residue succinyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables dihydrolipoyllysine-residue succinyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in 2-oxoglutarate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in L-lysine catabolic process to acetyl-CoA via saccharopine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in histone succinylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in succinyl-CoA metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tricarboxylic acid cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of oxoglutarate dehydrogenase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial
    Names
    E2K
    OGDC-E2
    dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)
    NP_001231812.1
    NP_001924.2

    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_030313.1 RefSeqGene

      Range
      5026..26853
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001244883.2NP_001231812.1  dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001231812.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs at the 3' end compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC006530, AK300396, DA995927, DC338747
      UniProtKB/TrEMBL
      B7Z6J1
      Related
      ENST00000555071.5
      Conserved Domains (1) summary
      pfam00364
      Location:71143
      Biotin_lipoyl; Biotin-requiring enzyme
    2. NM_001933.5NP_001924.2  dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_001924.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AI087261, AK289414, BM929953, CN422511, CX163292
      Consensus CDS
      CCDS9833.1
      UniProtKB/Swiss-Prot
      P36957
      UniProtKB/TrEMBL
      A0A024R6C9
      Related
      ENSP00000335304.4, ENST00000334220.9
      Conserved Domains (1) summary
      TIGR01347
      Location:71453
      sucB; 2-oxoglutarate dehydrogenase complex dihydrolipoamide succinyltransferase (E2 component)

    RNA

    1. NR_033814.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon and uses an alternate acceptor splice site at another exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA101667, AC006530, AK316463
    2. NR_045209.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC000302, BU623022, BX248774, CX163292, DC338747

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      74881913..74903743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001750184.2 RNA Sequence

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