WNK lysine deficient protein kinase 1
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Der WNK1 gene provides instructions for making multiple versions (isoforms) of the WNK1 protein. The different WNK1 isoforms are important in several functions in the body, including blood pressure regulation and pain sensation.
Normal function
Der WNK1 gene provides instructions for making multiple versions (isoforms) of the WNK1 protein. The different WNK1 isoforms are important in several functions in the body, including blood pressure regulation and pain sensation.
One isoform produced from the WNK1 gene is the full-length version, called the L-WNK1 protein, which is found in cells throughout the body. A different isoform, called the kidney-specific WNK1 protein or KS-WNK1, is found only in kidney cells. The L-WNK1 and KS-WNK1 proteins act as kinases, which are enzymes that change the activity of other proteins by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions.
The L-WNK1 and KS-WNK1 proteins regulate channels in the cell membrane that control the transport of sodium or potassium into and out of cells. In the kidneys, sodium channels help transport sodium into specialized cells, which then transfer it into the blood. This transfer helps keep sodium in the body through a process called reabsorption. Potassium channels handle excess potassium that has been transferred from the blood into kidney cells. The channels transport potassium out of the cells in a process called secretion, so that it can be removed from the body in urine.
The L-WNK1 protein increases sodium reabsorption and decreases potassium secretion, whereas the KS-WNK1 protein has the opposite effect. Sodium and potassium are important for regulating blood pressure, and a balance of L-WNK1 protein and KS-WNK1 protein in the kidneys helps maintain the correct levels of sodium and potassium for healthy blood pressure.
Another isoform produced from the WNK1 gene, called the WNK1/HSN2 protein, is found in the cells of the nervous system, including nerve cells that transmit the sensations of pain, temperature, and touch (sensory neurons). The WNK1/HSN2 protein appears to regulate channels in the cell membrane that can transport negatively charged chlorine atoms (chloride ions). These channels maintain the proper amount of chloride inside cells, which is important for controlling the activation (excitation) of the neurons.
Conditions referring to this gene or chromosome
Other names
HSAN2
HSN2
KDP
p65
PPP1R167
PRKWNK1
prostate-derived sterile 20-like kinase
protein kinase with no lysine 1
protein kinase, lysine deficient 1
PSK
serine/threonine-protein kinase WNK1
WNK1_HUMAN
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Weiterführende Lektüre und Referenzen
- WNK lysine deficient protein kinase 1; MedlinePlus, National Library of Medicine.
- Bercier V. WNK1/HSN2 isoform and the regulation of KCC2 activity. Rare Dis. 2013 Sep 19;1:e26537. doi: 10.4161/rdis.26537. eCollection 2013.
- Chavez-Canales M, Zhang C, Soukaseum C, Moreno E, Pacheco-Alvarez D, Vidal-Petiot E, Castaneda-Bueno M, Vazquez N, Rojas-Vega L, Meermeier NP, Rogers S, Jeunemaitre X, Yang CL, Ellison DH, Gamba G, Hadchouel J. WNK-SPAK-NCC cascade revisited: WNK1 stimulates the activity of the Na-Cl cotransporter via SPAK, an effect antagonized by WNK4. Hypertension. 2014 Nov;64(5):1047-53. doi: 10.1161/HYPERTENSIONAHA.114.04036. Epub 2014 Aug 11.
- Gamba G. Regulation of the renal Na+-Cl- cotransporter by phosphorylation and ubiquitylation. Am J Physiol Renal Physiol. 2012 Dec 15;303(12):F1573-83. doi: 10.1152/ajprenal.00508.2012. Epub 2012 Oct 3.
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- Wilson FH, Disse-Nicodeme S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Achard JM, Feely MP, Dussol B, Berland Y, Unwin RJ, Mayan H, Simon DB, Farfel Z, Jeunemaitre X, Lifton RP. Human hypertension caused by mutations in WNK kinases. Science. 2001 Aug 10;293(5532):1107-12. doi: 10.1126/science.1062844.
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8. Mai 2023 | Neueste Version
1 Apr 2017 | Ursprünglich veröffentlicht
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