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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
20
Cytoband
q13.31
Chromosome location (bp)
57561080 - 57568121
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Cytosolic phosphoenolpyruvate carboxykinase that catalyzes the reversible decarboxylation and phosphorylation of oxaloacetate (OAA) and acts as the rate-limiting enzyme in gluconeogenesis 1,2,3,4. Regulates cataplerosis and anaplerosis, the processes that control the levels of metabolic intermediates in the citric acid cycle 5,6,7,8. At low glucose levels, it catalyzes the cataplerotic conversion of oxaloacetate to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle 9. At high glucose levels, it catalyzes the anaplerotic conversion of phosphoenolpyruvate to oxaloacetate 10. Acts as a regulator of formation and maintenance of memory CD8(+) T-cells: up-regulated in these cells, where it generates phosphoenolpyruvate, via gluconeogenesis (By similarity). The resultant phosphoenolpyruvate flows to glycogen and pentose phosphate pathway, which is essential for memory CD8(+) T-cells homeostasis (By similarity). In addition to the phosphoenolpyruvate carboxykinase activity, also acts as a protein kinase when phosphorylated at Ser-90: phosphorylation at Ser-90 by AKT1 reduces the binding affinity to oxaloacetate and promotes an atypical serine protein kinase activity using GTP as donor 11. The protein kinase activity regulates lipogenesis: upon phosphorylation at Ser-90, translocates to the endoplasmic reticulum and catalyzes phosphorylation of INSIG proteins (INSIG1 and INSIG2), thereby disrupting the interaction between INSIG proteins and SCAP and promoting nuclear translocation of SREBP proteins (SREBF1/SREBP1 or SREBF2/SREBP2) and subsequent transcription of downstream lipogenesis-related genes 12....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Decarboxylase, Kinase, Lyase, Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Gluconeogenesis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]...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 Lyases Metabolic 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:0000166[nucleotide binding] GO:0000287[magnesium ion binding] GO:0004611[phosphoenolpyruvate carboxykinase activity] GO:0004613[phosphoenolpyruvate carboxykinase (GTP) activity] GO:0005525[GTP binding] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0006006[glucose metabolic process] GO:0006094[gluconeogenesis] GO:0006107[oxaloacetate metabolic process] GO:0006629[lipid metabolic process] GO:0009617[response to bacterium] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0016829[lyase activity] GO:0016831[carboxy-lyase activity] GO:0017076[purine nucleotide binding] GO:0018105[peptidyl-serine phosphorylation] GO:0019543[propionate catabolic process] GO:0030145[manganese ion binding] GO:0031406[carboxylic acid binding] GO:0032868[response to insulin] GO:0032869[cellular response to insulin stimulus] GO:0033993[response to lipid] GO:0042593[glucose homeostasis] GO:0042594[response to starvation] GO:0043382[positive regulation of memory T cell differentiation] GO:0046327[glycerol biosynthetic process from pyruvate] GO:0046872[metal ion binding] GO:0046890[regulation of lipid biosynthetic process] GO:0051365[cellular response to potassium ion starvation] GO:0061402[positive regulation of transcription from RNA polymerase II promoter in response to acidic pH] GO:0070062[extracellular exosome] GO:0070365[hepatocyte differentiation] GO:0071333[cellular response to glucose stimulus] GO:0071549[cellular response to dexamethasone stimulus] GO:0106264[protein serine kinase activity (using GTP as donor)]
The Human Protein Atlas project is funded
