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Aliases for DLST Gene

Aliases for DLST Gene

  • Dihydrolipoamide S-Succinyltransferase 2 3 5
  • Dihydrolipoamide S-Succinyltransferase (E2 Component Of 2-Oxo-Glutarate Complex) 2 3
  • OGDC-E2 3 4
  • DLTS 3 4
  • E2K 3 4
  • Dihydrolipoyllysine-Residue Succinyltransferase Component Of 2-Oxoglutarate Dehydrogenase Complex, Mitochondrial 3
  • Dihydrolipoamide Succinyltransferase Component Of 2-Oxoglutarate Dehydrogenase Complex 4
  • 2-Oxoglutarate Dehydrogenase Complex Component E2 4
  • Dihydrolipoyllysine-Residue Succinyltransferase 2
  • EC 2.3.1.61 4

External Ids for DLST Gene

Previous HGNC Symbols for DLST Gene

  • DLTS

Previous GeneCards Identifiers for DLST Gene

  • GC14P072875
  • GC14P069166
  • GC14P073338
  • GC14P074418
  • GC14P075348
  • GC14P055516

Summaries for DLST Gene

Entrez Gene Summary for DLST Gene

  • 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]

GeneCards Summary for DLST Gene

DLST (Dihydrolipoamide S-Succinyltransferase) is a Protein Coding gene. Diseases associated with DLST include Alpha-Ketoglutarate Dehydrogenase Deficiency and Wernicke-Korsakoff Syndrome. Among its related pathways are Metabolism and Citrate cycle (TCA cycle). Gene Ontology (GO) annotations related to this gene include transferase activity and dihydrolipoyllysine-residue succinyltransferase activity. An important paralog of this gene is DBT.

UniProtKB/Swiss-Prot for DLST Gene

  • Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex (By similarity). The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2) (By similarity). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711).

Gene Wiki entry for DLST Gene

Additional gene information for DLST Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLST Gene

Genomics for DLST Gene

GeneHancer (GH) Regulatory Elements for DLST Gene

Promoters and enhancers for DLST Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J074880 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 689.5 +2.3 2273 6.5 PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 DLST ZNF410 RPS6KL1 NEK9 YLPM1 PGF TTLL5 ENSG00000258559 FCF1 MLH3
GH14J074879 Enhancer 0.4 ENCODE 666.6 -1.6 -1606 0.9 HDAC2 KDM1A DLST RPS6KL1 PROX2
GH14J074938 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 28.9 +59.2 59210 4.6 HDGF BATF IRF4 GLIS2 ZNF207 ZNF143 FOS ATF7 ETV6 BCLAF1 DLST ACYP1 ZC2HC1C EIF2B2 RNU6-689P MLH3 RPS6KL1 GC14P074952 PGF
GH14J074840 Enhancer 0.9 Ensembl ENCODE 43.1 -40.5 -40463 2.3 PKNOX1 BATF KLF5 IRF4 POLR2A NFATC1 EED ATF7 ETV6 BCLAF1 DLST RPS6KL1 PROX2 LTBP2 MLH3 ZC2HC1C FCF1 ENSG00000222604 LOC105370569 GC14M074853
GH14J074834 Enhancer 0.8 Ensembl ENCODE 43 -44.7 -44723 5 FOXA2 BATF IKZF1 FOS ATF7 PRDM1 RUNX3 IKZF2 SPI1 DLST PROX2 LTBP2 MLH3 ZC2HC1C FCF1 ENSG00000222604 LOC105370569 GC14P074822 YLPM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DLST on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DLST gene promoter:
  • AP-2alphaA
  • AP-2alpha isoform 4
  • AP-2alpha isoform 3
  • AP-2alpha isoform 2
  • AP-2alpha
  • Sp1
  • Nkx2-5
  • C/EBPalpha

Genomic Locations for DLST Gene

Genomic Locations for DLST Gene
chr14:74,881,891-74,903,747
(GRCh38/hg38)
Size:
21,857 bases
Orientation:
Plus strand
chr14:75,348,594-75,370,450
(GRCh37/hg19)
Size:
21,857 bases
Orientation:
Plus strand

Genomic View for DLST Gene

Genes around DLST on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLST Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLST Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLST Gene

Proteins for DLST Gene

  • Protein details for DLST Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36957-ODO2_HUMAN
    Recommended name:
    Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial
    Protein Accession:
    P36957
    Secondary Accessions:
    • B7Z5W8
    • E7ESY5
    • Q7LDY7
    • Q9BQ32

    Protein attributes for DLST Gene

    Size:
    453 amino acids
    Molecular mass:
    48755 Da
    Cofactor:
    Name=(R)-lipoate; Xref=ChEBI:CHEBI:83088;
    Quaternary structure:
    • The 2-oxoglutarate dehydrogenase complex is composed of OGDH (2-oxoglutarate dehydrogenase; E1), DLST (dihydrolipoamide succinyltransferase; E2) and DLD (dihydrolipoamide dehydrogenase; E3). It contains multiple copies of the three enzymatic components (E1, E2 and E3). In the nucleus, the 2-oxoglutarate dehydrogenase complex associates with KAT2A (PubMed:29211711).

    Alternative splice isoforms for DLST Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLST Gene

Post-translational modifications for DLST Gene

  • Ubiquitination at posLast=217217 and posLast=203203
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DLST Gene

Domains & Families for DLST Gene

Gene Families for DLST Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P36957

UniProtKB/Swiss-Prot:

ODO2_HUMAN :
  • Belongs to the 2-oxoacid dehydrogenase family.
Family:
  • Belongs to the 2-oxoacid dehydrogenase family.
genes like me logo Genes that share domains with DLST: view

Function for DLST Gene

Molecular function for DLST Gene

UniProtKB/Swiss-Prot Function:
Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex (By similarity). The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2) (By similarity). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711).
UniProtKB/Swiss-Prot CatalyticActivity:
Succinyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-succinyldihydrolipoyl)lysine.
GENATLAS Biochemistry:
dihydrolipoamide S-succinyltransferase

Enzyme Numbers (IUBMB) for DLST Gene

Phenotypes From GWAS Catalog for DLST Gene

Gene Ontology (GO) - Molecular Function for DLST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004149 dihydrolipoyllysine-residue succinyltransferase activity ISS --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with DLST: view
genes like me logo Genes that share phenotypes with DLST: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DLST Gene

Localization for DLST Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLST Gene

Mitochondrion matrix. Nucleus. Note=Mainly localizes in the mitochondrion. A small fraction localizes to the nucleus, where the 2-oxoglutarate dehydrogenase complex is required for histone succinylation. {ECO:0000269 PubMed:29211711}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DLST gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for DLST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 29211711
GO:0005739 mitochondrion IDA,HDA 29211711
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane HDA 19946888
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with DLST: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DLST Gene

Pathways & Interactions for DLST Gene

genes like me logo Genes that share pathways with DLST: view

UniProtKB/Swiss-Prot P36957-ODO2_HUMAN

  • Pathway: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 6/6.

Gene Ontology (GO) - Biological Process for DLST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 8009371
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006103 2-oxoglutarate metabolic process ISS --
GO:0006104 succinyl-CoA metabolic process ISS --
GO:0006554 lysine catabolic process TAS --
genes like me logo Genes that share ontologies with DLST: view

No data available for SIGNOR curated interactions for DLST Gene

Drugs & Compounds for DLST Gene

(4) Drugs for DLST Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lipoic Acid Approved, Investigational Nutra 0
Succinyl-CoA Experimental Pharma 0
Coenzyme A Investigational Nutra 0

(5) Additional Compounds for DLST Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dihydrolipoamide
  • 6,8-Dimercaptooctanamide
  • Dihydrothioctamide
  • 6,8-Bis-sulfanyloctanamide
  • 6,8-dimercapto-Octanamide
  • 6,8-Disulfanyloctanamide
3884-47-7
(S)-Succinyldihydrolipoamide
  • S-Succinyl-dihydrolipoamide
  • S-Succinyldihydrolipoamide
Glutaryl-coa
  • Glutaryl-coenzyme A
103192-48-9
S-Glutaryldihydrolipoamide
  • S-Glutaryldihydrolipoamide-e
genes like me logo Genes that share compounds with DLST: view

Transcripts for DLST Gene

mRNA/cDNA for DLST Gene

Unigene Clusters for DLST Gene

Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DLST Gene

No ASD Table

Relevant External Links for DLST Gene

GeneLoc Exon Structure for
DLST
ECgene alternative splicing isoforms for
DLST

Expression for DLST Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DLST Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DLST Gene

This gene is overexpressed in Heart (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DLST Gene



Protein tissue co-expression partners for DLST Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DLST Gene:

DLST

SOURCE GeneReport for Unigene cluster for DLST Gene:

Hs.525459

Evidence on tissue expression from TISSUES for DLST Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Lung(4.4)
  • Blood(4.2)
  • Heart(2.4)
  • Kidney(2.4)
  • Muscle(2)
genes like me logo Genes that share expression patterns with DLST: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DLST Gene

Orthologs for DLST Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DLST Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DLST 34 33
  • 99.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DLST 34 33
  • 92.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DLST 34 33
  • 91.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DLST 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dlst 16 34 33
  • 88.52 (n)
rat
(Rattus norvegicus)
Mammalia Dlst 33
  • 88.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 85 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
chicken
(Gallus gallus)
Aves DLST 34 33
  • 75.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLST 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlst 33
  • 70.16 (n)
Str.124 33
African clawed frog
(Xenopus laevis)
Amphibia dlst-prov 33
zebrafish
(Danio rerio)
Actinopterygii dlst 34 33
  • 70.05 (n)
OneToOne
Dr.3786 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9840 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004055 33
  • 66.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5214 34 35
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea W02F12.5 35
  • 67 (a)
dlst-1 34 33
  • 64.1 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL200W 33
  • 61.16 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D16522g 33
  • 58.7 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KGD2 36 34 33
  • 57.3 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G55070 33
  • 54.69 (n)
soybean
(Glycine max)
eudicotyledons Gma.6351 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7649 33
rice
(Oryza sativa)
Liliopsida Os04g0394200 33
  • 64.35 (n)
Os.8748 33
corn
(Zea mays)
Liliopsida Zm.1058 33
barley
(Hordeum vulgare)
Liliopsida Hv.2268 33
wheat
(Triticum aestivum)
Liliopsida Ta.28698 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes kgd2 33
  • 57.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8110 34
  • 56 (a)
OneToOne
Cin.6748 33
bread mold
(Neurospora crassa)
Ascomycetes NCU02438 33
  • 53.27 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6748 33
Species where no ortholog for DLST was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DLST Gene

ENSEMBL:
Gene Tree for DLST (if available)
TreeFam:
Gene Tree for DLST (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DLST: view image

Paralogs for DLST Gene

Paralogs for DLST Gene

(1) SIMAP similar genes for DLST Gene using alignment to 12 proteins:

  • ODO2_HUMAN
  • B7Z5W8_HUMAN
  • B7ZAZ8_HUMAN
  • G3V3F0_HUMAN
  • G3V498_HUMAN
  • G3V5L9_HUMAN
  • G3V5M3_HUMAN
  • H0YJF9_HUMAN
  • Q6IBS5_HUMAN
  • Q86SW4_HUMAN
  • Q86TQ8_HUMAN
  • Q86TW7_HUMAN

Pseudogenes.org Pseudogenes for DLST Gene

genes like me logo Genes that share paralogs with DLST: view

Variants for DLST Gene

Sequence variations from dbSNP and Humsavar for DLST Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000200089 -- 74,901,591(+) C/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000308785 -- 74,900,937(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000495709 -- 74,888,429(+) A/C/G intron_variant
rs1000534368 -- 74,899,830(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000870141 -- 74,882,304(+) AGAG/AG intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DLST Gene

Variant ID Type Subtype PubMed ID
nsv832832 CNV gain+loss 17160897
nsv977487 CNV duplication 23825009

Variation tolerance for DLST Gene

Residual Variation Intolerance Score: 13.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.20; 52.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DLST Gene

Human Gene Mutation Database (HGMD)
DLST
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLST

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLST Gene

Disorders for DLST Gene

MalaCards: The human disease database

(3) MalaCards diseases for DLST Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alpha-ketoglutarate dehydrogenase deficiency
  • alpha-kgd deficiency
wernicke-korsakoff syndrome
  • transketolase defect
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search DLST in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DLST

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DLST: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLST Gene

Publications for DLST Gene

  1. Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease. (PMID: 11436125) Prince JA … Brookes AJ (European journal of human genetics : EJHG 2001) 3 22 44 58
  2. No association between DLST gene and Alzheimer's disease or Wernicke-Korsakoff syndrome. (PMID: 11445257) Matsushita S … Higuchi S (Neurobiology of aging 2001) 3 22 44 58
  3. [Association between DLST gene polymorphism and Alzheimer's disease]. (PMID: 11825528) Ma Q … Yang J (Zhonghua yi xue za zhi 2001) 3 22 44 58
  4. Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human alpha-ketoglutarate dehydrogenase complex. (PMID: 8009371) Ali G … Blass JP (Somatic cell and molecular genetics 1994) 2 3 22 58
  5. KAT2A coupled with the α-KGDH complex acts as a histone H3 succinyltransferase. (PMID: 29211711) Wang Y … Lu Z (Nature 2017) 3 4 58

Products for DLST Gene

Sources for DLST Gene

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