• Gene id: 1743

Gene Summary

• Gene Symbol: DLST   Gene   UCSC   Ensembl
• Aliases: DLTS, KGD2, PGL7
• Gene name: dihydrolipoamide S-succinyltransferase
• Alternate names: dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial, E2K, OGDC-E2, dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex),
• Gene location: 14q24.3 (74881912: 74903742)     Exons: 15     NC_000014.9
• Gene summary(Entrez): 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-oxoglutarat
• OMIM: 603122

Protein Summary

• Protein general information: P36957  
  • 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
  • Length: 453  
  • Mass: 48755
• Sequence:

  MLSRSRCVSRAFSRSLSAFQKGNCPLGRRSLPGVSLCQGPGYPNSRKVVINNSVFSVRFFRTTAVCKDDLVTVKT
  PAFAESVTEGDVRWEKAVGDTVAEDEVVCEIETDKTSVQVPSPANGVIEALLVPDGGKVEGGTPLFTLRKTGAAP
  AKAKPAEAPAAAAPKAEPTAAAVPPPAAPIPTQMPPVPSPSQPPSGKPVSAVKPTVAPPLAEPGAGKGLRSEHRE
  KMNRMRQRIAQRLKEAQNTCAMLTTFNEIDMSNIQEMRARHKEAFLKKHNLKLGFMSAFVKASAFALQEQPVVNA
  VIDDTTKEVVYRDYIDISVAVATPRGLVVPVIRNVEAMNFADIERTITELGEKARKNELAIEDMDGGTFTISNGG
  VFGSLFGTPIINPPQSAILGMHGIFDRPVAIGGKVEVRPMMYVALTYDHRLIDGREAVTFLRKIKAAVEDPRVLL
  LDL

• Structural information:
  • Protein Domains: (70..14-)
    (/note="Lipoyl-binding-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01066"-)
  • Interpro: IPR003016  IPR001078  IPR000089  IPR023213  IPR011053   IPR006255  
  • Prosite: PS50968 PS00189
  • PDB: 6H05
  • PDBsum: 6H05
  • STRING: ENSP00000335304
• Other Databases: GeneCards:  DLST  Malacards:  DLST

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0106077	histone succinylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0045252	oxoglutarate dehydrogenase complex	IDA	cellular component
GO:0004149	dihydrolipoyllysine-residue succinyltransferase activity	ISS	molecular function
GO:0006104	succinyl-CoA metabolic process	ISS	biological process
GO:0006103	2-oxoglutarate metabolic process	ISS	biological process
GO:0004149	dihydrolipoyllysine-residue succinyltransferase activity	IMP	molecular function
GO:0006099	tricarboxylic acid cycle	IMP	biological process
GO:0016746	transferase activity, transferring acyl groups	IMP	molecular function
GO:0004149	dihydrolipoyllysine-residue succinyltransferase activity	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0045252	oxoglutarate dehydrogenase complex	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0004149	dihydrolipoyllysine-residue succinyltransferase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:0006554	lysine catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0033512	L-lysine catabolic process to acetyl-CoA via saccharopine	IEA	biological process
GO:0005634	nucleus	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00310	Lysine degradation
hsa00020	Citrate cycle
hsa00380	Tryptophan metabolism

Diseases

Associated diseases	References
Alzheimer's disease	PMID:10227647
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq