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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).
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
p22.11
Chromosome location (bp)
24465244 - 24550466
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species....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
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). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. 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.
Enzymes ENZYME proteins Transferases Kinases Atypical kinases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases 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:0004674[protein serine/threonine kinase activity] GO:0004740[pyruvate dehydrogenase (acetyl-transferring) kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005730[nucleolus] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005975[carbohydrate metabolic process] GO:0006006[glucose metabolic process] GO:0006468[protein phosphorylation] 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:0018105[peptidyl-serine phosphorylation] GO:0035357[peroxisome proliferator activated receptor signaling pathway] GO:0071333[cellular response to glucose stimulus] GO:0071398[cellular response to fatty acid] GO:0097411[hypoxia-inducible factor-1alpha signaling pathway] GO:2000377[regulation of reactive oxygen species metabolic process]
Enzymes ENZYME proteins Transferases Kinases Atypical kinases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases 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:0004674[protein serine/threonine kinase activity] GO:0004740[pyruvate dehydrogenase (acetyl-transferring) kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005730[nucleolus] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005975[carbohydrate metabolic process] GO:0006006[glucose metabolic process] GO:0006468[protein phosphorylation] 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:0018105[peptidyl-serine phosphorylation] GO:0035357[peroxisome proliferator activated receptor signaling pathway] GO:0071333[cellular response to glucose stimulus] GO:0071398[cellular response to fatty acid] GO:0097411[hypoxia-inducible factor-1alpha signaling pathway] GO:2000377[regulation of reactive oxygen species metabolic process]
The Human Protein Atlas project is funded
