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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).
Cancer-related genes Enzymes
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
19
Cytoband
q13.2
Chromosome location (bp)
42226225 - 42242625
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1 1,2,3. Requires primed phosphorylation of the majority of its substrates 4,5,6. Contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis 7,8,9. Regulates glycogen metabolism in liver, but not in muscle (By similarity). May also mediate the development of insulin resistance by regulating activation of transcription factors 10,11. In Wnt signaling, regulates the level and transcriptional activity of nuclear CTNNB1/beta-catenin 12. Facilitates amyloid precursor protein (APP) processing and the generation of APP-derived amyloid plaques found in Alzheimer disease 13. May be involved in the regulation of replication in pancreatic beta-cells (By similarity). Is necessary for the establishment of neuronal polarity and axon outgrowth (By similarity). Through phosphorylation of the anti-apoptotic protein MCL1, may control cell apoptosis in response to growth factors deprivation (By similarity). Acts as a regulator of autophagy by mediating phosphorylation of KAT5/TIP60 under starvation conditions which activates KAT5/TIP60 acetyltransferase activity and promotes acetylation of key autophagy regulators, such as ULK1 and RUBCNL/Pacer 14. Negatively regulates extrinsic apoptotic signaling pathway via death domain receptors. Promotes the formation of an anti-apoptotic complex, made of DDX3X, BRIC2 and GSK3B, at death receptors, including TNFRSF10B. The anti-apoptotic function is most effective with weak apoptotic signals and can be overcome by stronger stimulation (By similarity). Phosphorylates mTORC2 complex component RICTOR at 'Thr-1695' which facilitates FBXW7-mediated ubiquitination and subsequent degradation of RICTOR 15....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Kinase, Serine/threonine-protein kinase, Signal transduction inhibitor, Transferase
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.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011]...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 CMGC Ser/Thr protein kinases MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers 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:0003073[regulation of systemic arterial blood pressure] GO:0003214[cardiac left ventricle morphogenesis] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0005102[signaling receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0005874[microtubule] GO:0005975[carbohydrate metabolic process] GO:0005977[glycogen metabolic process] GO:0006349[regulation of gene expression by genomic imprinting] GO:0006468[protein phosphorylation] GO:0007165[signal transduction] GO:0007212[dopamine receptor signaling pathway] GO:0007399[nervous system development] GO:0007568[aging] GO:0008286[insulin receptor signaling pathway] GO:0009968[negative regulation of signal transduction] GO:0010508[positive regulation of autophagy] GO:0010628[positive regulation of gene expression] GO:0010800[positive regulation of peptidyl-threonine phosphorylation] GO:0010905[negative regulation of UDP-glucose catabolic process] GO:0010975[regulation of neuron projection development] GO:0016055[Wnt signaling pathway] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016477[cell migration] GO:0016740[transferase activity] GO:0018105[peptidyl-serine phosphorylation] GO:0018107[peptidyl-threonine phosphorylation] GO:0019082[viral protein processing] GO:0019901[protein kinase binding] GO:0030424[axon] GO:0030877[beta-catenin destruction complex] GO:0031398[positive regulation of protein ubiquitination] GO:0032007[negative regulation of TOR signaling] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0032869[cellular response to insulin stimulus] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0034236[protein kinase A catalytic subunit binding] GO:0036016[cellular response to interleukin-3] GO:0043025[neuronal cell body] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0043525[positive regulation of neuron apoptotic process] GO:0044027[hypermethylation of CpG island] GO:0045719[negative regulation of glycogen biosynthetic process] GO:0045732[positive regulation of protein catabolic process] GO:0045823[positive regulation of heart contraction] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046325[negative regulation of glucose import] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0048156[tau protein binding] GO:0050321[tau-protein kinase activity] GO:0051093[negative regulation of developmental process] GO:0051128[regulation of cellular component organization] GO:0060079[excitatory postsynaptic potential] GO:0061052[negative regulation of cell growth involved in cardiac muscle cell development] GO:0071285[cellular response to lithium ion] GO:0071385[cellular response to glucocorticoid stimulus] GO:0071407[cellular response to organic cyclic compound] GO:0071879[positive regulation of adenylate cyclase-activating adrenergic receptor signaling pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0097191[extrinsic apoptotic signaling pathway] GO:0097192[extrinsic apoptotic signaling pathway in absence of ligand] GO:0097440[apical dendrite] GO:0098794[postsynapse] GO:0106071[positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway] GO:0106310[protein serine kinase activity] GO:0120283[protein serine/threonine kinase binding] GO:1901030[positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway] GO:1902004[positive regulation of amyloid-beta formation] GO:1903146[regulation of autophagy of mitochondrion] GO:1903955[positive regulation of protein targeting to mitochondrion] GO:1904227[negative regulation of glycogen synthase activity, transferring glucose-1-phosphate] GO:1990635[proximal dendrite] GO:2000077[negative regulation of type B pancreatic cell development] GO:2000171[negative regulation of dendrite development] GO:2000466[negative regulation of glycogen (starch) synthase activity] GO:2000467[positive regulation of glycogen (starch) synthase activity]
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
