• Gene id: 1737

Gene Summary

• Gene Symbol: DLAT   Gene   UCSC   Ensembl
• Aliases: DLTA, E2, PBC, PDC-E2, PDCE2
• Gene name: dihydrolipoamide S-acetyltransferase
• Alternate names: dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial, 70 kDa mitochondrial autoantigen of primary biliary cirrhosis, E2 component of pyruvate dehydrogenase complex, M2 antigen complex 70 kDa subunit, dihydro,
• Gene location: 11q23.1 (112025407: 112064403)     Exons: 14     NC_000011.10
• Gene summary(Entrez): This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acet
• OMIM: 615064

Protein Summary

• Protein general information: P10515  
  • Name: Dihydrolipoyllysine residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial (EC 2.3.1.12) (70 kDa mitochondrial autoantigen of primary biliary cirrhosis) (PBC) (Dihydrolipoamide acetyltransferase component of pyruvate dehydrog
  • Length: 647  
  • Mass: 68997
• Sequence:

  MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLL
  QLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILV
  AEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPA
  LSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADI
  SAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQV
  KGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSI
  DVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPI
  VFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPA
  DNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL

• Structural information:
  • Protein Domains: (91..16-)
    (/note="Lipoyl-binding-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01066-)
    (218..29-)
    (/note="Lipoyl-binding-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01066-)
    (356..39-)
    (PSBD) (/note="Peripheral-subunit-binding)
    (/evi-)
  • Interpro: IPR003016  IPR001078  IPR000089  IPR023213  IPR036625   IPR006257  IPR004167  IPR011053  
  • Prosite: PS50968 PS00189 PS51826
  • PDB: 1FYC 1Y8N 1Y8O 1Y8P 2DNE 2PNR 2Q8I 3B8K 3CRK 3CRL 6CT0 6H55
  • PDBsum: 1FYC 1Y8N 1Y8O 1Y8P 2DNE 2PNR 2Q8I 3B8K 3CRK 3CRL 6CT0 6H55
  • DIP: 29496
  • STRING: ENSP00000280346
• Other Databases: GeneCards:  DLAT  Malacards:  DLAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034604	pyruvate dehydrogenase (NAD+) activity	IBA	contributes to
GO:0006086	acetyl-CoA biosynthetic process from pyruvate	IBA	biological process
GO:0005967	mitochondrial pyruvate dehydrogenase complex	IBA	cellular component
GO:0004742	dihydrolipoyllysine-residue acetyltransferase activity	IBA	molecular function
GO:0045254	pyruvate dehydrogenase complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0045254	pyruvate dehydrogenase complex	IEA	cellular component
GO:0004742	dihydrolipoyllysine-residue acetyltransferase activity	IEA	molecular function
GO:0006090	pyruvate metabolic process	IEA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0006006	glucose metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004742	dihydrolipoyllysine-residue acetyltransferase activity	IEA	molecular function
GO:0030523	dihydrolipoamide S-acyltransferase activity	IEA	molecular function
GO:0045254	pyruvate dehydrogenase complex	IDA	cellular component
GO:0034604	pyruvate dehydrogenase (NAD+) activity	IDA	contributes to
GO:0034604	pyruvate dehydrogenase (NAD+) activity	IC	contributes to
GO:0004742	dihydrolipoyllysine-residue acetyltransferase activity	IDA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006090	pyruvate metabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0005515	protein binding	IPI	molecular function
GO:0045254	pyruvate dehydrogenase complex	IEA	cellular component
GO:0030431	sleep	IEA	biological process
GO:0006086	acetyl-CoA biosynthetic process from pyruvate	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004742	dihydrolipoyllysine-residue acetyltransferase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0005967	mitochondrial pyruvate dehydrogenase complex	NAS	cellular component
GO:0004742	dihydrolipoyllysine-residue acetyltransferase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00010	Glycolysis / Gluconeogenesis
hsa00620	Pyruvate metabolism
hsa00020	Citrate cycle

Diseases

Associated diseases	References
Pyruvate dehydrogenase complex deficiency	KEGG:H00072
Pyruvate dehydrogenase E2 deficiency	KEGG:H01999
Pyruvate dehydrogenase complex deficiency	KEGG:H00072
Pyruvate dehydrogenase E2 deficiency	KEGG:H01999
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq