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

    Gene ID: 1743, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DLSTprovided by HGNC
    Official Full Name
    dihydrolipoamide S-succinyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:2911
    See related
    Ensembl:ENSG00000119689 MIM:126063; AllianceGenome:HGNC:2911
    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; PPGL7
    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
    mouse all
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    Genomic context

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    See DLST in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74881916..74903743)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69091016..69112843)
    RS_2024_09 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 LOC124903348 Neighboring gene prospero homeobox 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75342793-75343292 Neighboring gene METTL5 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:75348551-75348777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8732 Neighboring gene HNF4 motif-containing MPRA enhancer 140 Neighboring gene ribosomal protein S6 kinase like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75388716-75389487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75389488-75390258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75401143-75401710 Neighboring gene uncharacterized LOC107984690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5936 Neighboring gene placental growth factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Modulation by DLST of the genetic risk of Alzheimer's disease in a very elderly population. Sheu KF, et al. Ann Neurol, 1999 Jan. PMID 9894876
    2. Metabolic Enzyme DLST Promotes Tumor Aggression and Reveals a Vulnerability to OXPHOS Inhibition in High-Risk Neuroblastoma. Anderson NM, et al. Cancer Res, 2021 Sep 1. PMID 34233924, Free PMC Article
    3. Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma. Buffet A, et al. J Clin Endocrinol Metab, 2021 Jan 23. PMID 33180916
    4. [2-Oxoglutarate dehydrogenase complex and its multipoint control]. Tylicki A, et al. Postepy Biochem, 2011. PMID 22235656
    5. Substantial linkage disequilibrium across the dihydrolipoyl succinyltransferase gene region without Alzheimer's disease association. Brown AM, et al. Neurochem Res, 2004 Mar. PMID 15038610

    See all (152) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Metabolic Enzyme DLST Promotes Tumor Aggression and Reveals a Vulnerability to OXPHOS Inhibition in High-Risk Neuroblastoma.
      Title: Metabolic Enzyme DLST Promotes Tumor Aggression and Reveals a Vulnerability to OXPHOS Inhibition in High-Risk Neuroblastoma.
    2. Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma.
      Title: Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma.
    3. five germline variants affecting DLST in eight unrelated individuals were identified; all except one were diagnosed with multiple pheochromocytomas and paragangliomas
      Title: Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.
    4. RNAi knockdown of DLST led to decreased cell viability and induction of apoptosis in human T-ALL cell lines
      Title: The TCA cycle transferase DLST is important for MYC-mediated leukemogenesis.
    5. ATP consumption is demonstrated in respiration-impaired isolated and in situ neuronal somal mitochondria from transgenic mice that exhibit a 20-48% decrease in alpha-ketoglutarate dehydrogenase activity.
      Title: The negative impact of α-ketoglutarate dehydrogenase complex deficiency on matrix substrate-level phosphorylation.
    6. 2-oxoglutarate dehydrogenase complex (OGDHC), the key regulatory enzyme of Krebs cycle. [review]
      Title: [2-Oxoglutarate dehydrogenase complex and its multipoint control].
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    9. Association between late-onset Alzheimer disease shows strong linkage disequilibrium across the DLST locus.
      Title: Substantial linkage disequilibrium across the dihydrolipoyl succinyltransferase gene region without Alzheimer's disease association.
    10. Data show that the dihydrolipoamide succinyltransferase gene is bifunctional, and truncated mRNA transcribed from it contributes to the biogenesis of the mitochondrial respiratory complexes.
      Title: Truncated product of the bifunctional DLST gene involved in biogenesis of the respiratory chain.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Paragangliomas 7
    MedGen: C5193116 OMIM: 618475 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 succinyl-CoA metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in tricarboxylic acid cycle IBA
    Inferred from Biological aspect of Ancestor
    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 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 HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    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 oxoadipate dehydrogenase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of oxoglutarate dehydrogenase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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
    XP_047287021.1
    XP_047287022.1
    XP_054231518.1
    XP_054231519.1

    NCBI Reference Sequences (RefSeq)

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    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_001244883.2 → NP_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:71 → 143
      Biotin_lipoyl; Biotin-requiring enzyme

    2. NM_001933.5 → NP_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
      B7Z5W8, E7ESY5, P36957, Q7LDY7, Q9BQ32
      UniProtKB/TrEMBL
      Q6IBS5
      Related
      ENSP00000335304.4, ENST00000334220.9
      Conserved Domains (1) summary
      TIGR01347
      Location:71 → 453
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      74881916..74903743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431065.1 → XP_047287021.1  dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform X1

    2. XM_047431066.1 → XP_047287022.1  dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      69091016..69112843
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375543.1 → XP_054231518.1  dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform X1

    2. XM_054375544.1 → XP_054231519.1  dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36957.4 GenPept UniProtKB/Swiss-Prot:P36957

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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