Version 5.4
Homo sapiens Gene: DLAT
Summary
InnateDB Gene IDBG-71181.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DLAT
Gene Name dihydrolipoamide S-acetyltransferase
Synonyms DLTA; PDC-E2; PDCE2
Species Homo sapiens
Ensembl Gene ENSG00000150768
Encoded Proteins
IDBP-71183
dihydrolipoamide S-acetyltransferase
IDBP-244409
dihydrolipoamide S-acetyltransferase
IDBP-591151
dihydrolipoamide S-acetyltransferase
IDBP-585697
dihydrolipoamide S-acetyltransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
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 acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95%% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:112024814-112064390
Strand Forward strand
Band q23.1
Transcripts
ENST00000280346 ENSP00000280346
ENST00000393051 ENSP00000376771
ENST00000533297 ENSP00000435374
ENST00000531306 ENSP00000433432
ENST00000527231
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 28 [view]
Protein-Protein 28 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004742 dihydrolipoyllysine-residue acetyltransferase activity
GO:0005515 protein binding
GO:0016746 transferase activity, transferring acyl groups
Biological Process
GO:0006006 glucose metabolic process
GO:0006090 pyruvate metabolic process
GO:0006099 tricarboxylic acid cycle
GO:0008152 metabolic process
GO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005967 mitochondrial pyruvate dehydrogenase complex
GO:0045254 pyruvate dehydrogenase complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000000168
View Gene Order
ENSBTAG00000010709
Not yet available
Pathways
NETPATH
REACTOME
REACT_12528
Regulation of pyruvate dehydrogenase (PDH) complex pathway
REACT_2071
Pyruvate metabolism pathway
REACT_1046
Pyruvate metabolism and Citric Acid (TCA) cycle pathway
REACT_111083
The citric acid (TCA) cycle and respiratory electron transport pathway
REACT_111217
Metabolism pathway
KEGG
hsa00010
Glycolysis / Gluconeogenesis pathway
hsa00620
Pyruvate metabolism pathway
hsa00020
Citrate cycle (TCA cycle) pathway
INOH
INOH website
Butanoate metabolism pathway
INOH website
Pyruvate metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.335551 Hs.645882
RefSeq NM_001931
HUGO
OMIM
CCDS CCDS8354
HPRD 10578
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca