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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Citric acid cycle related proteins Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
11
Cytoband
q23.1
Chromosome location (bp)
112025408 - 112064404
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
As part of the pyruvate dehydrogenase complex, catalyzes the transfers of an acetyl group to a lipoic acid moiety (Probable). The pyruvate dehydrogenase complex, catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links cytoplasmic glycolysis and the mitochondrial tricarboxylic acid (TCA) cycle (Probable)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Acyltransferase, Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Metabolic proteins MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
E9PEJ4 [Direct mapping] Acetyltransferase component of pyruvate dehydrogenase complex
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Metabolic proteins MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Protein evidence (Ezkurdia et al 2014)
H0YDD4 [Direct mapping] Acetyltransferase component of pyruvate dehydrogenase complex
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Metabolic proteins MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Protein evidence (Ezkurdia et al 2014)
A0A7P0TA47 [Direct mapping] Acetyltransferase component of pyruvate dehydrogenase complex
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Metabolic proteins MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Protein evidence (Ezkurdia et al 2014)
A0A7P0T997 [Direct mapping] Acetyltransferase component of pyruvate dehydrogenase complex
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Metabolic proteins MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Protein evidence (Ezkurdia et al 2014)
A0A7P0TBK2 [Direct mapping] Acetyltransferase component of pyruvate dehydrogenase complex
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Metabolic proteins MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Protein evidence (Ezkurdia et al 2014)
A0A7P0TBE2 [Direct mapping] Acetyltransferase component of pyruvate dehydrogenase complex
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Metabolic proteins MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Protein evidence (Ezkurdia et al 2014)
A0A7P0TAX2 [Direct mapping] Acetyltransferase component of pyruvate dehydrogenase complex
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Metabolic proteins MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Protein evidence (Ezkurdia et al 2014)
A0A7P0TAG1 [Direct mapping] Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex
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Metabolic proteins MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
