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

Gene ID: 1743, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74881916..74903743)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69091016..69112843)
105.20220307 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
  • 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. 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
  2. Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma. Buffet A, et al. J Clin Endocrinol Metab, 2021 Jan 23. PMID 33180916
  3. [2-Oxoglutarate dehydrogenase complex and its multipoint control]. Tylicki A, et al. Postepy Biochem, 2011. PMID 22235656
  4. Substantial linkage disequilibrium across the dihydrolipoyl succinyltransferase gene region without Alzheimer's disease association. Brown AM, et al. Neurochem Res, 2004 Mar. PMID 15038610
  5. Truncated product of the bifunctional DLST gene involved in biogenesis of the respiratory chain. Kanamori T, et al. EMBO J, 2003 Jun 16. PMID 12805207, Free PMC Article

See all (133) 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
  
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 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_2023_10

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

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