Homo sapiens Gene: DLAT

Summary
InnateDB Gene IDBG-71181.5
Last Modified 2012-02-14   [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
IDBP-600534 dihydrolipoamide S-acetyltransferase
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11: 111895538-111935114
Strand Forward strand
Band q23.1
Transcripts
ENST00000280346  ENSP00000280346
ENST00000393051  ENSP00000376771
ENST00000533297  ENSP00000435374
ENST00000531306  ENSP00000433432
ENST00000527231 
ENST00000537636  ENSP00000442427
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 29 [view]
Protein‑Protein  29
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Predicted by orthology
Total [view]
Gene Ontology
Accession GO Term
Molecular Function
GO:0004742 dihydrolipoyllysine-residue acetyltransferase activity
GO:0005515 protein binding
GO:0016746 transferase activity, transferring acyl groups
Biological Process
GO:0006085 acetyl-CoA biosynthetic process
GO:0006086 acetyl-CoA biosynthetic process from pyruvate
GO:0006090 pyruvate metabolic process
GO:0006096 glycolysis
GO:0008152 metabolic process
GO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate
GO:0030431 sleep
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 Method Confidence Comments
ENSMUSG00000000168 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000010709 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_2071 Pyruvate metabolism
REACT_12528 Regulation of pyruvate dehydrogenase (PDH) complex
KEGG
hsa00020  Citrate cycle (TCA cycle)
hsa00010  Glycolysis / Gluconeogenesis
hsa01100  Metabolic pathways
hsa00620  Pyruvate metabolism
INOH
INOH website Butanoate metabolism
INOH website Pyruvate metabolism
PID BIOCARTA
PID NCI
Cross-References
SwissProt P10515 
TrEMBL E9PEJ4 E9PKC7 F5H7M3 H0YDD4 Q86YI5
UniProt Splice Variant
Entrez Gene 1737 
UniGene Hs.335551 Hs.645882
RefSeq NM_001931 
HUGO 2896 
OMIM 608770
CCDS CCDS8354 
HPRD 10578
IMGT
EMBL AK057299 AK223596 AP000907 BC039084 EF444972 J03866 Y00978
GenPept AAA62253  AAH39084  ACA05975  BAD97316  BAG51900  CAA68787 
ImmGen DLAT (murine) 
RNA Seq Atlas 1737