• Gene id: 65125

Gene Summary

• Gene Symbol: WNK1   Gene   UCSC   Ensembl
• Aliases: HSAN2, HSN2, KDP, PPP1R167, PRKWNK1, PSK, p65
• Gene name: WNK lysine deficient protein kinase 1
• Alternate names: serine/threonine-protein kinase WNK1, WNK lysine deficient protein kinase 1 isoform, erythrocyte 65 kDa protein, prostate-derived sterile 20-like kinase, protein kinase with no lysine 1, protein phosphatase 1, regulatory subunit 167, serine/threonine-protein ki,
• Gene location: 12p13.33 (752578: 911451)     Exons: 31     NC_000012.12
• Gene summary(Entrez): 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 ps
• OMIM: 605232

Protein Summary

• Protein general information: Q9H4A3  
  • Name: Serine/threonine protein kinase WNK1 (EC 2.7.11.1) (Erythrocyte 65 kDa protein) (p65) (Kinase deficient protein) (Protein kinase lysine deficient 1) (Protein kinase with no lysine 1) (hWNK1)
  • Length: 2382  
  • Mass: 250794
  • Tissue specificity: Widely expressed, with highest levels observed in the testis, heart, kidney and skeletal muscle. Isoform 3 is kidney-specific and specifically expressed in the distal convoluted tubule (DCT) and connecting tubule (CNT) of the nephron.
• Sequence:

  MSGGAAEKQSSTPGSLFLSPPAPAPKNGSSSDSSVGEKLGAAAADAVTGRTEEYRRRRHTMDKDSRGAAATTTTT
  EHRFFRRSVICDSNATALELPGLPLSLPQPSIPAAVPQSAPPEPHREETVTATATSQVAQQPPAAAAPGEQAVAG
  PAPSTVPSSTSKDRPVSQPSLVGSKEEPPPARSGSGGGSAKEPQEERSQQQDDIEELETKAVGMSNDGRFLKFDI
  EIGRGSFKTVYKGLDTETTVEVAWCELQDRKLTKSERQRFKEEAEMLKGLQHPNIVRFYDSWESTVKGKKCIVLV
  TELMTSGTLKTYLKRFKVMKIKVLRSWCRQILKGLQFLHTRTPPIIHRDLKCDNIFITGPTGSVKIGDLGLATLK
  RASFAKSVIGTPEFMAPEMYEEKYDESVDVYAFGMCMLEMATSEYPYSECQNAAQIYRRVTSGVKPASFDKVAIP
  EVKEIIEGCIRQNKDERYSIKDLLNHAFFQEETGVRVELAEEDDGEKIAIKLWLRIEDIKKLKGKYKDNEAIEFS
  FDLERDVPEDVAQEMVESGYVCEGDHKTMAKAIKDRVSLIKRKREQRQLVREEQEKKKQEESSLKQQVEQSSASQ
  TGIKQLPSASTGIPTASTTSASVSTQVEPEEPEADQHQQLQYQQPSISVLSDGTVDSGQGSSVFTESRVSSQQTV
  SYGSQHEQAHSTGTVPGHIPSTVQAQSQPHGVYPPSSVAQGQSQGQPSSSSLTGVSSSQPIQHPQQQQGIQQTAP
  PQQTVQYSLSQTSTSSEATTAQPVSQPQAPQVLPQVSAGKQLPVSQPVPTIQGEPQIPVATQPSVVPVHSGAHFL
  PVGQPLPTPLLPQYPVSQIPISTPHVSTAQTGFSSLPITMAAGITQPLLTLASSATTAAIPGVSTVVPSQLPTLL
  QPVTQLPSQVHPQLLQPAVQSMGIPANLGQAAEVPLSSGDVLYQGFPPRLPPQYPGDSNIAPSSNVASVCIHSTV
  LSPPMPTEVLATPGYFPTVVQPYVESNLLVPMGGVGGQVQVSQPGGSLAQAPTTSSQQAVLESTQGVSQVAPAEP
  VAVAQTQATQPTTLASSVDSAHSDVASGMSDGNENVPSSSGRHEGRTTKRHYRKSVRSRSRHEKTSRPKLRILNV
  SNKGDRVVECQLETHNRKMVTFKFDLDGDNPEEIATIMVNNDFILAIERESFVDQVREIIEKADEMLSEDVSVEP
  EGDQGLESLQGKDDYGFSGSQKLEGEFKQPIPASSMPQQIGIPTSSLTQVVHSAGRRFIVSPVPESRLRESKVFP
  SEITDTVAASTAQSPGMNLSHSASSLSLQQAFSELRRAQMTEGPNTAPPNFSHTGPTFPVVPPFLSSIAGVPTTA
  AATAPVPATSSPPNDISTSVIQSEVTVPTEEGIAGVATSTGVVTSGGLPIPPVSESPVLSSVVSSITIPAVVSIS
  TTSPSLQVPTSTSEIVVSSTALYPSVTVSATSASAGGSTATPGPKPPAVVSQQAAGSTTVGATLTSVSTTTSFPS
  TASQLCIQLSSSTSTPTLAETVVVSAHSLDKTSHSSTTGLAFSLSAPSSSSSPGAGVSSYISQPGGLHPLVIPSV
  IASTPILPQAAGPTSTPLLPQVPSIPPLVQPVANVPAVQQTLIHSQPQPALLPNQPHTHCPEVDSDTQPKAPGID
  DIKTLEEKLRSLFSEHSSSGAQHASVSLETSLVIESTVTPGIPTTAVAPSKLLTSTTSTCLPPTNLPLGTVALPV
  TPVVTPGQVSTPVSTTTSGVKPGTAPSKPPLTKAPVLPVGTELPAGTLPSEQLPPFPGPSLTQSQQPLEDLDAQL
  RRTLSPEMITVTSAVGPVSMAAPTAITEAGTQPQKGVSQVKEGPVLATSSGAGVFKMGRFQVSVAADGAQKEGKN
  KSEDAKSVHFESSTSESSVLSSSSPESTLVKPEPNGITIPGISSDVPESAHKTTASEAKSDTGQPTKVGRFQVTT
  TANKVGRFSVSKTEDKITDTKKEGPVASPPFMDLEQAVLPAVIPKKEKPELSEPSHLNGPSSDPEAAFLSRDVDD
  GSGSPHSPHQLSSKSLPSQNLSQSLSNSFNSSYMSSDNESDIEDEDLKLELRRLRDKHLKEIQDLQSRQKHEIES
  LYTKLGKVPPAVIIPPAAPLSGRRRRPTKSKGSKSSRSSSLGNKSPQLSGNLSGQSAASVLHPQQTLHPPGNIPE
  SGQNQLLQPLKPSPSSDNLYSAFTSDGAISVPSLSAPGQGTSSTNTVGATVNSQAAQAQPPAMTSSRKGTFTDDL
  HKLVDNWARDAMNLSGRRGSKGHMNYEGPGMARKFSAPGQLCISMTSNLGGSAPISAASATSLGHFTKSMCPPQQ
  YGFPATPFGAQWSGTGGPAPQPLGQFQPVGTASLQNFNISNLQKSISNPPGSNLRTT

• Structural information:
  • Protein Domains: (221..47-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR024678  IPR000719  IPR008271  
  • Prosite: PS50011 PS00108
  • PDB: 4PWN 5TF9 5WDY 5WE8 6FBK
  • PDBsum: 4PWN 5TF9 5WDY 5WE8 6FBK
  • DIP: 32648
  • STRING: ENSP00000341292
• Other Databases: GeneCards:  WNK1  Malacards:  WNK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904062	regulation of cation transmembrane transport	IMP	biological process
GO:0018107	peptidyl-threonine phosphorylation	ISS	biological process
GO:0018107	peptidyl-threonine phosphorylation	IMP	biological process
GO:0018107	peptidyl-threonine phosphorylation	IMP	biological process
GO:0018107	peptidyl-threonine phosphorylation	IMP	biological process
GO:0030295	protein kinase activator activity	IMP	molecular function
GO:0023016	signal transduction by trans-phosphorylation	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004672	protein kinase activity	IMP	molecular function
GO:0005829	cytosol	ISS	cellular component
GO:0019901	protein kinase binding	IPI	molecular function
GO:0006468	protein phosphorylation	IMP	biological process
GO:0035556	intracellular signal transduction	TAS	biological process
GO:0016020	membrane	ISS	cellular component
GO:0018107	peptidyl-threonine phosphorylation	TAS	biological process
GO:2000651	positive regulation of sodium ion transmembrane transporter activity	IBA	biological process
GO:0032414	positive regulation of ion transmembrane transporter activity	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:1903288	positive regulation of potassium ion import across plasma membrane	IBA	biological process
GO:0050801	ion homeostasis	IBA	biological process
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0019870	potassium channel inhibitor activity	IBA	molecular function
GO:0019869	chloride channel inhibitor activity	IBA	molecular function
GO:0010766	negative regulation of sodium ion transport	IBA	biological process
GO:0006468	protein phosphorylation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0019902	phosphatase binding	IDA	molecular function
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0002028	regulation of sodium ion transport	ISS	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004860	protein kinase inhibitor activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033633	negative regulation of cell-cell adhesion mediated by integrin	IMP	biological process
GO:0034115	negative regulation of heterotypic cell-cell adhesion	IMP	biological process
GO:0010820	positive regulation of T cell chemotaxis	IMP	biological process
GO:1990869	cellular response to chemokine	IMP	biological process
GO:0004674	protein serine/threonine kinase activity	ISS	molecular function
GO:1903038	negative regulation of leukocyte cell-cell adhesion	IMP	biological process
GO:0018105	peptidyl-serine phosphorylation	ISS	biological process
GO:0038116	chemokine (C-C motif) ligand 21 signaling pathway	ISS	biological process
GO:0034260	negative regulation of GTPase activity	IMP	biological process
GO:0050852	T cell receptor signaling pathway	ISS	biological process
GO:0097022	lymphocyte migration into lymph node	ISS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0032147	activation of protein kinase activity	IEA	biological process
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0019869	chloride channel inhibitor activity	IDA	molecular function
GO:0035556	intracellular signal transduction	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0006468	protein phosphorylation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0050794	regulation of cellular process	ISS	biological process
GO:0048666	neuron development	NAS	biological process
GO:0006811	ion transport	ISS	biological process

Diseases

Associated diseases	References
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Renal tubular acidosis	KEGG:H02310
Hyperkalemic distal renal tubular acidosis	KEGG:H00243
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Renal tubular acidosis	KEGG:H02310
Hyperkalemic distal renal tubular acidosis	KEGG:H00243
Hereditary sensory neuropathy	PMID:15060842
Hypertension	PMID:16301342
Pseudohypoaldosteronism	PMID:11498583
Cryptorchidism	MIK: 21412036
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray