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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
X
Cytoband
p22.12
Chromosome location (bp)
19343893 - 19361718
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Pyruvate, Thiamine pyrophosphate
Gene summary (Entrez)i
Useful information about the gene from Entrez
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]...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.
Metabolic proteins SPOCTOPUS predicted membrane proteins Phobius predicted secreted 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 (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004739[pyruvate dehydrogenase (acetyl-transferring) activity] GO:0005730[nucleolus] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006086[acetyl-CoA biosynthetic process from pyruvate] GO:0016491[oxidoreductase activity] GO:0016624[oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0043231[intracellular membrane-bounded organelle]
Metabolic proteins SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted 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)
Show all
GO:0004738[pyruvate dehydrogenase activity] GO:0004739[pyruvate dehydrogenase (acetyl-transferring) activity] GO:0005730[nucleolus] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005975[carbohydrate metabolic process] GO:0006006[glucose metabolic process] GO:0006086[acetyl-CoA biosynthetic process from pyruvate] GO:0006090[pyruvate metabolic process] GO:0016491[oxidoreductase activity] GO:0016624[oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0043231[intracellular membrane-bounded organelle]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins SPOCTOPUS predicted membrane proteins Phobius predicted secreted 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)
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GO:0004738[pyruvate dehydrogenase activity] GO:0004739[pyruvate dehydrogenase (acetyl-transferring) activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005730[nucleolus] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005967[mitochondrial pyruvate dehydrogenase complex] GO:0005975[carbohydrate metabolic process] GO:0006006[glucose metabolic process] GO:0006086[acetyl-CoA biosynthetic process from pyruvate] GO:0006090[pyruvate metabolic process] GO:0006099[tricarboxylic acid cycle] GO:0016491[oxidoreductase activity] GO:0016624[oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0034604[pyruvate dehydrogenase (NAD+) activity] GO:0043231[intracellular membrane-bounded organelle] GO:0045254[pyruvate dehydrogenase complex] GO:1902494[catalytic complex]
Metabolic proteins SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted 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 (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004739[pyruvate dehydrogenase (acetyl-transferring) activity] GO:0005730[nucleolus] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006086[acetyl-CoA biosynthetic process from pyruvate] GO:0016491[oxidoreductase activity] GO:0016624[oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0043231[intracellular membrane-bounded organelle]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins SPOCTOPUS predicted membrane proteins Phobius predicted secreted 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)
Show all
GO:0004738[pyruvate dehydrogenase activity] GO:0004739[pyruvate dehydrogenase (acetyl-transferring) activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005730[nucleolus] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005967[mitochondrial pyruvate dehydrogenase complex] GO:0005975[carbohydrate metabolic process] GO:0006006[glucose metabolic process] GO:0006086[acetyl-CoA biosynthetic process from pyruvate] GO:0006090[pyruvate metabolic process] GO:0006099[tricarboxylic acid cycle] GO:0016491[oxidoreductase activity] GO:0016624[oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0043231[intracellular membrane-bounded organelle] GO:0045254[pyruvate dehydrogenase complex]
The Human Protein Atlas project is funded
