DLST (dihydrolipoamide S-succinyltransferase)

Gene

• Entrez ID: 1743
• Gene name: Dihydrolipoamide S-succinyltransferase
• Gene symbol: DLST
• Synonyms: DLTS, KGD2, PGL7
• Chromosome: 14
• Chromosome location: 14q24.3
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1270341616	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT036029	hsa-miR-1301-3p	CLASH	23622248
MIRT037800	hsa-miR-92b-5p	CLASH	23622248
MIRT039832	hsa-miR-615-3p	CLASH	23622248
MIRT040701	hsa-miR-92b-3p	CLASH	23622248
MIRT041111	hsa-miR-503-5p	CLASH	23622248
MIRT042860	hsa-miR-324-3p	CLASH	23622248
MIRT045733	hsa-miR-125a-5p	CLASH	23622248
MIRT048341	hsa-miR-106a-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004149	Function	Dihydrolipoyllysine-residue succinyltransferase activity	IMP	30929736
GO:0004149	Function	Dihydrolipoyllysine-residue succinyltransferase activity	ISS
GO:0005515	Function	Protein binding	IPI	16169070, 29128334, 32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IDA	29211711
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA	29211711
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	8009371
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	IMP	30929736
GO:0006099	Process	Tricarboxylic acid cycle	TAS
GO:0006103	Process	2-oxoglutarate metabolic process	ISS
GO:0006104	Process	Succinyl-CoA metabolic process	ISS
GO:0006554	Process	Lysine catabolic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016746	Function	Transferase activity, transferring acyl groups	IMP	30929736
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0033512	Process	L-lysine catabolic process to acetyl-CoA via saccharopine	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0045252	Component	Oxoglutarate dehydrogenase complex	IDA	29211711
GO:0106077	Process	Histone succinylation	IDA	29211711

Other IDs

• MIM: 126063
• HGNC: 2911
• e!Ensembl: ENSG00000119689

Protein

• UniProt ID: P36957
• Protein name: Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial (EC 2.3.1.61) (2-oxoglutarate dehydrogenase complex component E2) (OGDC-E2) (Dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex) (E2K)
• Protein function: Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex. The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711, PubMed:30929736). 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).
• PDB: 6H05
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00364	Biotin_lipoyl	71 → 143	Biotin-requiring enzyme	Domain
  PF00198	2-oxoacid_dh	220 → 451	2-oxoacid dehydrogenases acyltransferase (catalytic domain)	Domain

• Sequence:

  MLSRSRCVSRAFSRSLSAFQKGNCPLGRRSLPGVSLCQGPGYPNSRKVVINNSVFSVRFF
  RTTAVCKDDLVTVKTPAFAESVTEGDVRWEKAVGDTVAEDEVVCEIETDKTSVQVPSPAN
  GVIEALLVPDGGKVEGGTPLFTLRKTGAAPAKAKPAEAPAAAAPKAEPTAAAVPPPAAPI
  PTQMPPVPSPSQPPSGKPVSAVKPTVAPPLAEPGAGKGLRSEHREKMNRMRQRIAQRLKE
  AQNTCAMLTTFNEIDMSNIQEMRARHKEAFLKKHNLKLGFMSAFVKASAFALQEQPVVNA
  VIDDTTKEVVYRDYIDISVAVATPRGLVVPVIRNVEAMNFADIERTITELGEKARKNELA
  IEDMDGGTFTISNGGVFGSLFGTPIINPPQSAILGMHGIFDRPVAIGGKVEVRPMMYVAL
  TYDHRLIDGREAVTFLRKIKAAVEDPRVLLLDL

• Sequence length: 453