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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).
Enzymes FDA approved drug targets Metabolic proteins Plasma proteins
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
2
Cytoband
q31.1
Chromosome location (bp)
172555373 - 172608669
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Plays an important role in cellular responses to hypoxia and is important for cell proliferation under hypoxia. Protects cells against apoptosis in response to hypoxia and oxidative stress....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Kinase, Transferase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]...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 Kinases Atypical kinases Metabolic proteins Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins FDA approved drug targets Small molecule drugs 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:0000166[nucleotide binding] GO:0004672[protein kinase activity] GO:0004740[pyruvate dehydrogenase (acetyl-transferring) kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005967[mitochondrial pyruvate dehydrogenase complex] GO:0005975[carbohydrate metabolic process] GO:0006006[glucose metabolic process] GO:0006468[protein phosphorylation] GO:0008283[cell population proliferation] GO:0008631[intrinsic apoptotic signaling pathway in response to oxidative stress] GO:0010510[regulation of acetyl-CoA biosynthetic process from pyruvate] GO:0010906[regulation of glucose metabolic process] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0097411[hypoxia-inducible factor-1alpha signaling pathway]
Enzymes ENZYME proteins Transferases Kinases Atypical kinases Metabolic proteins SCAMPI predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins FDA approved drug targets Small molecule drugs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0004672[protein kinase activity] GO:0004740[pyruvate dehydrogenase (acetyl-transferring) kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005975[carbohydrate metabolic process] GO:0006006[glucose metabolic process] GO:0006468[protein phosphorylation] GO:0008283[cell population proliferation] GO:0008631[intrinsic apoptotic signaling pathway in response to oxidative stress] GO:0010510[regulation of acetyl-CoA biosynthetic process from pyruvate] GO:0010906[regulation of glucose metabolic process] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0097411[hypoxia-inducible factor-1alpha signaling pathway]
Enzymes ENZYME proteins Transferases Kinases Atypical kinases Metabolic proteins Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins FDA approved drug targets Small molecule drugs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0004672[protein kinase activity] GO:0004740[pyruvate dehydrogenase (acetyl-transferring) kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005975[carbohydrate metabolic process] GO:0006006[glucose metabolic process] GO:0006468[protein phosphorylation] GO:0008283[cell population proliferation] GO:0008631[intrinsic apoptotic signaling pathway in response to oxidative stress] GO:0010510[regulation of acetyl-CoA biosynthetic process from pyruvate] GO:0010906[regulation of glucose metabolic process] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0097411[hypoxia-inducible factor-1alpha signaling pathway]
The Human Protein Atlas project is funded
