Human Gene DLST (uc001xqv.2) Description and Page Index
  Description: Homo sapiens dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) (DLST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
RefSeq Summary (NM_001933): 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].
Transcript (Including UTRs)
   Position: hg19 chr14:75,348,594-75,370,450 Size: 21,857 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr14:75,348,657-75,369,033 Size: 20,377 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:75,348,594-75,370,450)mRNA (may differ from genome)Protein (453 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ODO2_HUMAN
DESCRIPTION: RecName: Full=Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial; EC=2.3.1.61; AltName: Full=2-oxoglutarate dehydrogenase complex component E2; Short=OGDC-E2; AltName: Full=Dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex; AltName: Full=E2K; Flags: Precursor;
FUNCTION: The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of 3 enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3).
CATALYTIC ACTIVITY: Succinyl-CoA + enzyme N(6)- (dihydrolipoyl)lysine = CoA + enzyme N(6)-(S- succinyldihydrolipoyl)lysine.
COFACTOR: Binds 1 lipoyl cofactor covalently.
PATHWAY: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 6/6.
SUBUNIT: Forms a 24-polypeptide structural core with octahedral symmetry.
SUBCELLULAR LOCATION: Mitochondrion.
SIMILARITY: Belongs to the 2-oxoacid dehydrogenase family.
SIMILARITY: Contains 1 lipoyl-binding domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DLST
CDC HuGE Published Literature: DLST
Positive Disease Associations: Alzheimer's Disease
Related Studies:
  1. Alzheimer's Disease
    Sheu KF et al. 1999, A DLST genotype associated with reduced risk for Alzheimer's disease., Neurology. 1999 Apr;52(7):1505-7. [PubMed 10227647]
  2. Alzheimer's Disease
    Ma, Q. et al. 2001, [Association between DLST gene polymorphism and Alzheimer's disease], Zhonghua yi xue za zhi. 2001 Oct;81(20):1246-8. [PubMed 11825528]
    The AT/AC genotype of DLST gene is associated with an increased risk for SAD.
  3. Alzheimer's Disease
    Ma Q et al. 2001, Association between DLST gene polymorphism and Alzheimer's disease, Zhonghua yi xue za zhi. 2001 Oct;81(20):1246-8. [PubMed 11825528]
    The AT/AC genotype of DLST gene is associated with an increased risk for SAD.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: DLST
Diseases sorted by gene-association score: alpha-ketoglutarate dehydrogenase deficiency (13), wernicke-korsakoff syndrome (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 68.73 RPKM in Adrenal Gland
Total median expression: 2011.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.8063-0.235 Picture PostScript Text
3' UTR -524.321417-0.370 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003016 - 2-oxoA_DH_lipoyl-BS
IPR001078 - 2-oxoacid_DH_actylTfrase
IPR000089 - Biotin_lipoyl
IPR023213 - CAT-like_dom
IPR011053 - Single_hybrid_motif
IPR006255 - SucB

Pfam Domains:
PF00198 - 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
PF00364 - Biotin-requiring enzyme

SCOP Domains:
51230 - Single hybrid motif
52777 - CoA-dependent acyltransferases

ModBase Predicted Comparative 3D Structure on P36957
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGD   SGD
 Protein Sequence   Protein Sequence
 Alignment   Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004149 dihydrolipoyllysine-residue succinyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups

Biological Process:
GO:0006091 generation of precursor metabolites and energy
GO:0006099 tricarboxylic acid cycle
GO:0006103 2-oxoglutarate metabolic process
GO:0006104 succinyl-CoA metabolic process
GO:0008152 metabolic process
GO:0033512 L-lysine catabolic process to acetyl-CoA via saccharopine

Cellular Component:
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0016020 membrane
GO:0043209 myelin sheath
GO:0045252 oxoglutarate dehydrogenase complex


-  Descriptions from all associated GenBank mRNAs
  LF209602 - JP 2014500723-A/17105: Polycomb-Associated Non-Coding RNAs.
AK289414 - Homo sapiens cDNA FLJ75101 complete cds, highly similar to Homo sapiens dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) (DLST), mRNA.
BX248276 - human full-length cDNA clone CS0DI006YM01 of Placenta of Homo sapiens (human).
AK299505 - Homo sapiens cDNA FLJ55034 complete cds, highly similar to Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial precursor (EC 2.3.1.61).
AK316463 - Homo sapiens cDNA, FLJ79362 complete cds, moderately similar to Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial precursor (EC 2.3.1.61).
BC000302 - Homo sapiens dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex), mRNA (cDNA clone MGC:8382 IMAGE:2820348), complete cds.
BC001922 - Homo sapiens dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex), mRNA (cDNA clone MGC:3895 IMAGE:2820348), complete cds.
BC002735 - Homo sapiens cDNA clone IMAGE:3627724, containing frame-shift errors.
BX248764 - human full-length cDNA 5-PRIME end of clone CS0DB006YE12 of Neuroblastoma of Homo sapiens (human).
D16373 - Homo sapiens alpha-KG-E2 mRNA for mitochondrial dihydrolipoamide succinyltransferase, complete cds.
CR456727 - Homo sapiens full open reading frame cDNA clone RZPDo834B0211D for gene DLST, dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex); complete cds, incl. stopcodon.
HQ448281 - Synthetic construct Homo sapiens clone IMAGE:100071684; CCSB003150_02 dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) (DLST) gene, encodes complete protein.
KJ896706 - Synthetic construct Homo sapiens clone ccsbBroadEn_06100 DLST gene, encodes complete protein.
L37418 - Homo sapiens dihydrolipoamide succinyltransferase (E2K) mRNA, complete cds.
MA445179 - JP 2018138019-A/17105: Polycomb-Associated Non-Coding RNAs.
AK300396 - Homo sapiens cDNA FLJ55035 complete cds, highly similar to Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial precursor (EC 2.3.1.61).
JD459289 - Sequence 440313 from Patent EP1572962.
CU674146 - Synthetic construct Homo sapiens gateway clone IMAGE:100017302 5' read DLST mRNA.
BX248774 - human full-length cDNA 5-PRIME end of clone CS0DJ009YL13 of T cells (Jurkat cell line) of Homo sapiens (human).
LF330076 - JP 2014500723-A/137579: Polycomb-Associated Non-Coding RNAs.
D17297 - Homo sapiens premature mRNA for dihydrolipoamide succinyltransferase, partial cds.
LF330077 - JP 2014500723-A/137580: Polycomb-Associated Non-Coding RNAs.
LF330078 - JP 2014500723-A/137581: Polycomb-Associated Non-Coding RNAs.
DQ601636 - Homo sapiens piRNA piR-39702, complete sequence.
MA565653 - JP 2018138019-A/137579: Polycomb-Associated Non-Coding RNAs.
MA565654 - JP 2018138019-A/137580: Polycomb-Associated Non-Coding RNAs.
MA565655 - JP 2018138019-A/137581: Polycomb-Associated Non-Coding RNAs.
LF330082 - JP 2014500723-A/137585: Polycomb-Associated Non-Coding RNAs.
LF330084 - JP 2014500723-A/137587: Polycomb-Associated Non-Coding RNAs.
JD154608 - Sequence 135632 from Patent EP1572962.
JD385130 - Sequence 366154 from Patent EP1572962.
JD396144 - Sequence 377168 from Patent EP1572962.
LF330085 - JP 2014500723-A/137588: Polycomb-Associated Non-Coding RNAs.
JD318073 - Sequence 299097 from Patent EP1572962.
JD131303 - Sequence 112327 from Patent EP1572962.
JD361231 - Sequence 342255 from Patent EP1572962.
JD433289 - Sequence 414313 from Patent EP1572962.
JD196643 - Sequence 177667 from Patent EP1572962.
JD341685 - Sequence 322709 from Patent EP1572962.
JD113295 - Sequence 94319 from Patent EP1572962.
JD110777 - Sequence 91801 from Patent EP1572962.
JD083917 - Sequence 64941 from Patent EP1572962.
JD557215 - Sequence 538239 from Patent EP1572962.
JD331209 - Sequence 312233 from Patent EP1572962.
JD326676 - Sequence 307700 from Patent EP1572962.
JD449567 - Sequence 430591 from Patent EP1572962.
JD361559 - Sequence 342583 from Patent EP1572962.
JD248227 - Sequence 229251 from Patent EP1572962.
JD557255 - Sequence 538279 from Patent EP1572962.
JD273582 - Sequence 254606 from Patent EP1572962.
JD558113 - Sequence 539137 from Patent EP1572962.
JD429912 - Sequence 410936 from Patent EP1572962.
JD411659 - Sequence 392683 from Patent EP1572962.
JD554191 - Sequence 535215 from Patent EP1572962.
JD233386 - Sequence 214410 from Patent EP1572962.
JD474427 - Sequence 455451 from Patent EP1572962.
JD076077 - Sequence 57101 from Patent EP1572962.
LF330086 - JP 2014500723-A/137589: Polycomb-Associated Non-Coding RNAs.
JD312771 - Sequence 293795 from Patent EP1572962.
JD261340 - Sequence 242364 from Patent EP1572962.
LF330087 - JP 2014500723-A/137590: Polycomb-Associated Non-Coding RNAs.
JD234269 - Sequence 215293 from Patent EP1572962.
JD358147 - Sequence 339171 from Patent EP1572962.
LF330088 - JP 2014500723-A/137591: Polycomb-Associated Non-Coding RNAs.
LF330089 - JP 2014500723-A/137592: Polycomb-Associated Non-Coding RNAs.
MA565659 - JP 2018138019-A/137585: Polycomb-Associated Non-Coding RNAs.
MA565661 - JP 2018138019-A/137587: Polycomb-Associated Non-Coding RNAs.
MA565662 - JP 2018138019-A/137588: Polycomb-Associated Non-Coding RNAs.
MA565663 - JP 2018138019-A/137589: Polycomb-Associated Non-Coding RNAs.
MA565664 - JP 2018138019-A/137590: Polycomb-Associated Non-Coding RNAs.
MA565665 - JP 2018138019-A/137591: Polycomb-Associated Non-Coding RNAs.
MA565666 - JP 2018138019-A/137592: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00020 - Citrate cycle (TCA cycle)
hsa00310 - Lysine degradation
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-5084 - 2-ketoglutarate dehydrogenase complex

Reactome (by CSHL, EBI, and GO)

Protein P36957 (Reactome details) participates in the following event(s):

R-HSA-6792572 LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs
R-HSA-71037 alpha-ketoadipate + CoASH + NAD+ => glutaryl-CoA + CO2 + NADH + H+
R-HSA-71401 alpha-ketoglutarate + CoASH + NAD+ => succinyl-CoA + CO2 + NADH + H+
R-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-71064 Lysine catabolism
R-HSA-71403 Citric acid cycle (TCA cycle)
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-6788656 Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism
R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle
R-HSA-1430728 Metabolism
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport

-  Other Names for This Gene
  Alternate Gene Symbols: DLTS, NM_001933, NP_001924, ODO2_HUMAN, P36957, Q7LDY7, Q9BQ32
UCSC ID: uc001xqv.2
RefSeq Accession: NM_001933
Protein: P36957 (aka ODO2_HUMAN)
CCDS: CCDS9833.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001933.4
exon count: 15CDS single in 3' UTR: no RNA size: 2857
ORF size: 1362CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2924.00frame shift in genome: no % Coverage: 99.48
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.