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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 Metabolic 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
17
Cytoband
q21.33
Chromosome location (bp)
50094737 - 50112152
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 the 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. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism. Mediates cellular responses to insulin. Plays an important role in maintaining normal blood glucose levels and in metabolic adaptation to nutrient availability. Via its regulation of pyruvate dehydrogenase activity, plays an important role in maintaining normal blood pH and in preventing the accumulation of ketone bodies under starvation. Plays a role in the regulation of cell proliferation and in resistance to apoptosis under oxidative stress. Plays a role in p53/TP53-mediated apoptosis....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
This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 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.
Enzymes ENZYME proteins Transferases Kinases Atypical kinases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) 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:0005654[nucleoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0005967[mitochondrial pyruvate dehydrogenase complex] GO:0005975[carbohydrate metabolic process] GO:0006006[glucose metabolic process] GO:0006111[regulation of gluconeogenesis] GO:0006468[protein phosphorylation] GO:0006885[regulation of pH] GO:0008286[insulin receptor signaling pathway] GO:0010510[regulation of acetyl-CoA biosynthetic process from pyruvate] GO:0010565[regulation of cellular ketone metabolic process] GO:0010906[regulation of glucose metabolic process] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0031670[cellular response to nutrient] GO:0034614[cellular response to reactive oxygen species] GO:0042593[glucose homeostasis] GO:0042803[protein homodimerization activity] GO:0072332[intrinsic apoptotic signaling pathway by p53 class mediator]
Enzymes ENZYME proteins Transferases Kinases Atypical kinases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) 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:0005654[nucleoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0005967[mitochondrial pyruvate dehydrogenase complex] GO:0005975[carbohydrate metabolic process] GO:0006006[glucose metabolic process] GO:0006111[regulation of gluconeogenesis] GO:0006468[protein phosphorylation] GO:0006885[regulation of pH] GO:0008286[insulin receptor signaling pathway] GO:0010510[regulation of acetyl-CoA biosynthetic process from pyruvate] GO:0010565[regulation of cellular ketone metabolic process] GO:0010906[regulation of glucose metabolic process] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0031670[cellular response to nutrient] GO:0034614[cellular response to reactive oxygen species] GO:0042593[glucose homeostasis] GO:0042803[protein homodimerization activity] GO:0050848[regulation of calcium-mediated signaling] GO:0072332[intrinsic apoptotic signaling pathway by p53 class mediator]
Enzymes ENZYME proteins Transferases Kinases Atypical kinases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) 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:0005654[nucleoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0005967[mitochondrial pyruvate dehydrogenase complex] GO:0005975[carbohydrate metabolic process] GO:0006006[glucose metabolic process] GO:0006111[regulation of gluconeogenesis] GO:0006468[protein phosphorylation] GO:0006885[regulation of pH] GO:0008286[insulin receptor signaling pathway] GO:0010510[regulation of acetyl-CoA biosynthetic process from pyruvate] GO:0010565[regulation of cellular ketone metabolic process] GO:0010906[regulation of glucose metabolic process] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0031670[cellular response to nutrient] GO:0034614[cellular response to reactive oxygen species] GO:0042593[glucose homeostasis] GO:0042803[protein homodimerization activity] GO:0072332[intrinsic apoptotic signaling pathway by p53 class mediator]
The Human Protein Atlas project is funded
