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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
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
p11.22
Chromosome location (bp)
54192823 - 54358642
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Serine/threonine-protein kinase component of the WNK3-SPAK/OSR1 kinase cascade, which plays an important role in the regulation of electrolyte homeostasis and regulatory volume increase in response to hyperosmotic stress 1,2,3,4,5. WNK3 mediates regulatory volume increase in response to hyperosmotic stress by acting as a molecular crowding sensor, which senses cell shrinkage and mediates formation of a membraneless compartment by undergoing liquid-liquid phase separation 6. The membraneless compartment concentrates WNK3 with its substrates, OXSR1/OSR1 and STK39/SPAK, promoting WNK3-dependent phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK 7. Following activation, OXSR1/OSR1 and STK39/SPAK catalyze phosphorylation of ion cotransporters SLC12A1/NKCC2, SLC12A2/NKCC1, SLC12A3/NCC, SLC12A4/KCC1, SLC12A5/KCC2 or SLC12A6/KCC3, regulating their activity 8,9. Phosphorylation of Na-K-Cl cotransporters SLC12A2/NKCC1 and SLC12A2/NKCC1 promote their activation and ion influx; simultaneously, phosphorylation of K-Cl cotransporters SLC12A4/KCC1, SLC12A5/KCC2 and SLC12A6/KCC3 inhibits its activity, blocking ion efflux 10,11,12,13,14. Phosphorylates WNK4, possibly regulating the activity of SLC12A3/NCC 15. May also phosphorylate NEDD4L 16. Also acts as a scaffold protein independently of its protein kinase activity: negatively regulates cell membrane localization of various transporters and channels, such as KCNJ1 and SLC26A9 17,18. Increases Ca(2+) influx mediated by TRPV5 and TRPV6 by enhancing their membrane expression level via a kinase-dependent pathway 19....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
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 protein belonging to the 'with no lysine' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 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 MEMSAT-SVM predicted membrane 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)
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GO:0000166[nucleotide binding] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005912[adherens junction] GO:0005923[bicellular tight junction] GO:0006468[protein phosphorylation] GO:0006884[cell volume homeostasis] GO:0007231[osmosensory signaling pathway] GO:0010765[positive regulation of sodium ion transport] GO:0010766[negative regulation of sodium ion transport] GO:0010800[positive regulation of peptidyl-threonine phosphorylation] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018107[peptidyl-threonine phosphorylation] GO:0019869[chloride channel inhibitor activity] GO:0019870[potassium channel inhibitor activity] GO:0032414[positive regulation of ion transmembrane transporter activity] GO:0035556[intracellular signal transduction] GO:0035633[maintenance of blood-brain barrier] GO:0043066[negative regulation of apoptotic process] GO:0046777[protein autophosphorylation] GO:0050801[ion homeostasis] GO:0051928[positive regulation of calcium ion transport] GO:0072659[protein localization to plasma membrane] GO:0090279[regulation of calcium ion import] GO:0106310[protein serine kinase activity] GO:1903078[positive regulation of protein localization to plasma membrane] GO:1903288[positive regulation of potassium ion import across plasma membrane] GO:1904062[regulation of cation transmembrane transport] GO:2000651[positive regulation of sodium ion transmembrane transporter activity]
Enzymes ENZYME proteins Transferases Kinases MEMSAT-SVM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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:0004674[protein serine/threonine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005912[adherens junction] GO:0005923[bicellular tight junction] GO:0006468[protein phosphorylation] GO:0006884[cell volume homeostasis] GO:0007231[osmosensory signaling pathway] GO:0010765[positive regulation of sodium ion transport] GO:0010766[negative regulation of sodium ion transport] GO:0010800[positive regulation of peptidyl-threonine phosphorylation] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018107[peptidyl-threonine phosphorylation] GO:0019869[chloride channel inhibitor activity] GO:0019870[potassium channel inhibitor activity] GO:0032414[positive regulation of ion transmembrane transporter activity] GO:0035556[intracellular signal transduction] GO:0035633[maintenance of blood-brain barrier] GO:0043066[negative regulation of apoptotic process] GO:0046777[protein autophosphorylation] GO:0050801[ion homeostasis] GO:0051928[positive regulation of calcium ion transport] GO:0072659[protein localization to plasma membrane] GO:0090279[regulation of calcium ion import] GO:0106310[protein serine kinase activity] GO:1903078[positive regulation of protein localization to plasma membrane] GO:1903288[positive regulation of potassium ion import across plasma membrane] GO:1904062[regulation of cation transmembrane transport] GO:2000651[positive regulation of sodium ion transmembrane transporter activity]
Enzymes ENZYME proteins Transferases Kinases MEMSAT-SVM predicted membrane 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:0004674[protein serine/threonine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005912[adherens junction] GO:0005923[bicellular tight junction] GO:0006468[protein phosphorylation] GO:0006884[cell volume homeostasis] GO:0007231[osmosensory signaling pathway] GO:0010765[positive regulation of sodium ion transport] GO:0010766[negative regulation of sodium ion transport] GO:0010800[positive regulation of peptidyl-threonine phosphorylation] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018107[peptidyl-threonine phosphorylation] GO:0019869[chloride channel inhibitor activity] GO:0019870[potassium channel inhibitor activity] GO:0032414[positive regulation of ion transmembrane transporter activity] GO:0035556[intracellular signal transduction] GO:0035633[maintenance of blood-brain barrier] GO:0043066[negative regulation of apoptotic process] GO:0046777[protein autophosphorylation] GO:0050801[ion homeostasis] GO:0051928[positive regulation of calcium ion transport] GO:0072659[protein localization to plasma membrane] GO:0090279[regulation of calcium ion import] GO:0106310[protein serine kinase activity] GO:1903078[positive regulation of protein localization to plasma membrane] GO:1903288[positive regulation of potassium ion import across plasma membrane] GO:1904062[regulation of cation transmembrane transport] GO:2000651[positive regulation of sodium ion transmembrane transporter activity]
The Human Protein Atlas project is funded
