| Tbio | Serine/threonine-protein kinase WNK1 |
Isoform 3: Dominant-negative regulator of the longer isoform 1. Does not have kinase activity, does not directly inhibit WNK4 and has no direct effect on sodium and chloride ion transport. Downregulates sodium-chloride cotransporter activity indirectly by inhibiting isoform 1, it associates with isoform 1 and attenuates its kinase activity. In kidney, may play an important role regulating sodium and potassium balance.
This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]
This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hypertension | 396 | 5.316 | 2.7 |
| Kidney Diseases | 114 | 0.0 | 0.0 |
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA | 4 | 0.0 | 0.0 |
| Pseudohypoaldosteronism | 23 | 0.0 | 0.0 |
| Pseudohypoaldosteronism, Type IIc | 1 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Hereditary Motor and Sensory-Neuropathy Type II | 4 |
| Hypertensive disease | 292 |
| Disease | Target Count | P-value |
|---|---|---|
| Breast cancer | 3578 | 7.9e-08 |
| ependymoma | 4679 | 3.0e-06 |
| ovarian cancer | 8520 | 3.0e-06 |
| atypical teratoid / rhabdoid tumor | 5112 | 1.2e-05 |
| psoriasis | 6694 | 3.8e-04 |
| Pick disease | 1894 | 1.5e-03 |
| lung adenocarcinoma | 2716 | 1.9e-03 |
| medulloblastoma, large-cell | 6241 | 1.9e-03 |
| glioblastoma | 5792 | 5.3e-03 |
| gastric carcinoma | 807 | 6.2e-03 |
| osteosarcoma | 7950 | 1.4e-02 |
| Alzheimer's disease | 658 | 1.9e-02 |
| non primary Sjogren syndrome sicca | 891 | 1.9e-02 |
| astrocytoma | 1146 | 2.1e-02 |
| interstitial lung disease | 298 | 2.5e-02 |
| esophageal adenocarcinoma | 737 | 2.6e-02 |
| adult high grade glioma | 3801 | 3.0e-02 |
| Astrocytoma, Pilocytic | 3081 | 3.0e-02 |
| progressive supranuclear palsy | 676 | 4.0e-02 |
| sarcoidosis | 370 | 4.4e-02 |
| group 3 medulloblastoma | 4104 | 4.5e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neuropathy | 261 | 3.079 | 1.5 |
| Neurodegenerative disease | 414 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Kidney disease | 430 | 4.345 | 2.2 |
| Metabolic acidosis | 90 | 4.222 | 2.1 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -1.400 | 3.0e-02 |
| Alzheimer's disease | 1.500 | 1.9e-02 |
| astrocytoma | 1.400 | 2.1e-02 |
| Astrocytoma, Pilocytic | -1.100 | 3.0e-02 |
| atypical teratoid / rhabdoid tumor | 1.600 | 1.2e-05 |
| Breast cancer | 1.100 | 7.9e-08 |
| ependymoma | -1.600 | 3.0e-06 |
| esophageal adenocarcinoma | -1.200 | 2.6e-02 |
| gastric carcinoma | 1.400 | 6.2e-03 |
| glioblastoma | -1.100 | 5.3e-03 |
| group 3 medulloblastoma | -1.100 | 4.5e-02 |
| interstitial lung disease | 1.100 | 2.5e-02 |
| lung adenocarcinoma | 1.253 | 1.9e-03 |
| medulloblastoma, large-cell | -2.200 | 1.9e-03 |
| non primary Sjogren syndrome sicca | -1.100 | 1.9e-02 |
| osteosarcoma | 1.309 | 1.4e-02 |
| ovarian cancer | 2.400 | 3.0e-06 |
| Pick disease | 1.200 | 1.5e-03 |
| progressive supranuclear palsy | 1.600 | 4.0e-02 |
| psoriasis | 1.400 | 3.8e-04 |
| sarcoidosis | 1.300 | 4.4e-02 |
MSGGAAEKQSSTPGSLFLSPPAPAPKNGSSSDSSVGEKLGAAAADAVTGRTEEYRRRRHTMDKDSRGAAA 1 - 70 TTTTTEHRFFRRSVICDSNATALELPGLPLSLPQPSIPAAVPQSAPPEPHREETVTATATSQVAQQPPAA 71 - 140 AAPGEQAVAGPAPSTVPSSTSKDRPVSQPSLVGSKEEPPPARSGSGGGSAKEPQEERSQQQDDIEELETK 141 - 210 AVGMSNDGRFLKFDIEIGRGSFKTVYKGLDTETTVEVAWCELQDRKLTKSERQRFKEEAEMLKGLQHPNI 211 - 280 VRFYDSWESTVKGKKCIVLVTELMTSGTLKTYLKRFKVMKIKVLRSWCRQILKGLQFLHTRTPPIIHRDL 281 - 350 KCDNIFITGPTGSVKIGDLGLATLKRASFAKSVIGTPEFMAPEMYEEKYDESVDVYAFGMCMLEMATSEY 351 - 420 PYSECQNAAQIYRRVTSGVKPASFDKVAIPEVKEIIEGCIRQNKDERYSIKDLLNHAFFQEETGVRVELA 421 - 490 EEDDGEKIAIKLWLRIEDIKKLKGKYKDNEAIEFSFDLERDVPEDVAQEMVESGYVCEGDHKTMAKAIKD 491 - 560 RVSLIKRKREQRQLVREEQEKKKQEESSLKQQVEQSSASQTGIKQLPSASTGIPTASTTSASVSTQVEPE 561 - 630 EPEADQHQQLQYQQPSISVLSDGTVDSGQGSSVFTESRVSSQQTVSYGSQHEQAHSTGTVPGHIPSTVQA 631 - 700 QSQPHGVYPPSSVAQGQSQGQPSSSSLTGVSSSQPIQHPQQQQGIQQTAPPQQTVQYSLSQTSTSSEATT 701 - 770 AQPVSQPQAPQVLPQVSAGKQLPVSQPVPTIQGEPQIPVATQPSVVPVHSGAHFLPVGQPLPTPLLPQYP 771 - 840 VSQIPISTPHVSTAQTGFSSLPITMAAGITQPLLTLASSATTAAIPGVSTVVPSQLPTLLQPVTQLPSQV 841 - 910 HPQLLQPAVQSMGIPANLGQAAEVPLSSGDVLYQGFPPRLPPQYPGDSNIAPSSNVASVCIHSTVLSPPM 911 - 980 PTEVLATPGYFPTVVQPYVESNLLVPMGGVGGQVQVSQPGGSLAQAPTTSSQQAVLESTQGVSQVAPAEP 981 - 1050 VAVAQTQATQPTTLASSVDSAHSDVASGMSDGNENVPSSSGRHEGRTTKRHYRKSVRSRSRHEKTSRPKL 1051 - 1120 RILNVSNKGDRVVECQLETHNRKMVTFKFDLDGDNPEEIATIMVNNDFILAIERESFVDQVREIIEKADE 1121 - 1190 MLSEDVSVEPEGDQGLESLQGKDDYGFSGSQKLEGEFKQPIPASSMPQQIGIPTSSLTQVVHSAGRRFIV 1191 - 1260 SPVPESRLRESKVFPSEITDTVAASTAQSPGMNLSHSASSLSLQQAFSELRRAQMTEGPNTAPPNFSHTG 1261 - 1330 PTFPVVPPFLSSIAGVPTTAAATAPVPATSSPPNDISTSVIQSEVTVPTEEGIAGVATSTGVVTSGGLPI 1331 - 1400 PPVSESPVLSSVVSSITIPAVVSISTTSPSLQVPTSTSEIVVSSTALYPSVTVSATSASAGGSTATPGPK 1401 - 1470 PPAVVSQQAAGSTTVGATLTSVSTTTSFPSTASQLCIQLSSSTSTPTLAETVVVSAHSLDKTSHSSTTGL 1471 - 1540 AFSLSAPSSSSSPGAGVSSYISQPGGLHPLVIPSVIASTPILPQAAGPTSTPLLPQVPSIPPLVQPVANV 1541 - 1610 PAVQQTLIHSQPQPALLPNQPHTHCPEVDSDTQPKAPGIDDIKTLEEKLRSLFSEHSSSGAQHASVSLET 1611 - 1680 SLVIESTVTPGIPTTAVAPSKLLTSTTSTCLPPTNLPLGTVALPVTPVVTPGQVSTPVSTTTSGVKPGTA 1681 - 1750 PSKPPLTKAPVLPVGTELPAGTLPSEQLPPFPGPSLTQSQQPLEDLDAQLRRTLSPEMITVTSAVGPVSM 1751 - 1820 AAPTAITEAGTQPQKGVSQVKEGPVLATSSGAGVFKMGRFQVSVAADGAQKEGKNKSEDAKSVHFESSTS 1821 - 1890 ESSVLSSSSPESTLVKPEPNGITIPGISSDVPESAHKTTASEAKSDTGQPTKVGRFQVTTTANKVGRFSV 1891 - 1960 SKTEDKITDTKKEGPVASPPFMDLEQAVLPAVIPKKEKPELSEPSHLNGPSSDPEAAFLSRDVDDGSGSP 1961 - 2030 HSPHQLSSKSLPSQNLSQSLSNSFNSSYMSSDNESDIEDEDLKLELRRLRDKHLKEIQDLQSRQKHEIES 2031 - 2100 LYTKLGKVPPAVIIPPAAPLSGRRRRPTKSKGSKSSRSSSLGNKSPQLSGNLSGQSAASVLHPQQTLHPP 2101 - 2170 GNIPESGQNQLLQPLKPSPSSDNLYSAFTSDGAISVPSLSAPGQGTSSTNTVGATVNSQAAQAQPPAMTS 2171 - 2240 SRKGTFTDDLHKLVDNWARDAMNLSGRRGSKGHMNYEGPGMARKFSAPGQLCISMTSNLGGSAPISAASA 2241 - 2310 TSLGHFTKSMCPPQQYGFPATPFGAQWSGTGGPAPQPLGQFQPVGTASLQNFNISNLQKSISNPPGSNLR 2311 - 2380 TT 2381 - 2382 //
