UniProtKB - Q9H4A3 (WNK1_HUMAN)
Serine/threonine-protein kinase WNK1
WNK1
Functioni
Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D and SGK1. Controls sodium and chloride ion transport by inhibiting the activity of WNK4, by either phosphorylating the kinase or via an interaction between WNK4 and the autoinhibitory domain of WNK1. WNK4 regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation. WNK1 may also play a role in actin cytoskeletal reorganization. Phosphorylates NEDD4L. Acts as a scaffold to inhibit SLC4A4, SLC26A6 as well as CFTR activities and surface expression, recruits STK39 which mediates the inhibition (By similarity).
By similarity2 PublicationsDominant-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. Down-regulates 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.
By similarityCaution
Catalytic activityi
Cofactori
Activity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 231 | ATP; via amide nitrogenCombined sources1 Publication | 1 | |
Binding sitei | 351 | ATPCombined sources1 Publication | 1 | |
Active sitei | 368 | Proton acceptorBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 301 – 304 | ATPCombined sources1 Publication | 4 |
GO - Molecular functioni
- ATP binding Source: UniProtKB
- chloride channel inhibitor activity Source: UniProtKB
- phosphatase binding Source: UniProtKB
- potassium channel inhibitor activity Source: GO_Central
- protein kinase activator activity Source: ParkinsonsUK-UCL
- protein kinase activity Source: ParkinsonsUK-UCL
- protein kinase binding Source: ParkinsonsUK-UCL
- protein kinase inhibitor activity Source: UniProtKB-KW
- protein serine/threonine/tyrosine kinase activity Source: RHEA
- protein serine/threonine kinase activity Source: UniProtKB
- protein serine kinase activity Source: RHEA
GO - Biological processi
- cation homeostasis Source: UniProtKB
- cellular response to chemokine Source: BHF-UCL
- chemokine (C-C motif) ligand 21 signaling pathway Source: BHF-UCL
- intracellular signal transduction Source: UniProtKB
- ion homeostasis Source: GO_Central
- ion transport Source: UniProtKB
- lymphocyte migration into lymph node Source: BHF-UCL
- negative regulation of cell-cell adhesion mediated by integrin Source: BHF-UCL
- negative regulation of GTPase activity Source: BHF-UCL
- negative regulation of heterotypic cell-cell adhesion Source: BHF-UCL
- negative regulation of leukocyte cell-cell adhesion Source: BHF-UCL
- negative regulation of pancreatic juice secretion Source: Ensembl
- negative regulation of sodium ion transport Source: UniProtKB
- neuron development Source: UniProtKB
- peptidyl-serine phosphorylation Source: BHF-UCL
- peptidyl-threonine phosphorylation Source: ARUK-UCL
- positive regulation of canonical Wnt signaling pathway Source: FlyBase
- positive regulation of potassium ion import across plasma membrane Source: GO_Central
- positive regulation of sodium ion transmembrane transporter activity Source: GO_Central
- positive regulation of systemic arterial blood pressure Source: Ensembl
- positive regulation of T cell chemotaxis Source: BHF-UCL
- protein phosphorylation Source: UniProtKB
- regulation of cation transmembrane transport Source: ARUK-UCL
- regulation of sodium ion transport Source: UniProtKB
- signal transduction Source: ParkinsonsUK-UCL
- T cell receptor signaling pathway Source: BHF-UCL
Keywordsi
Molecular function | Kinase, Protein kinase inhibitor, Serine/threonine-protein kinase, Transferase |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9H4A3 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
SignaLinki | Q9H4A3 |
SIGNORi | Q9H4A3 |
Protein family/group databases
MoonDBi | Q9H4A3, Predicted |
Names & Taxonomyi
Protein namesi | Recommended name: Serine/threonine-protein kinase WNK1Curated (EC:2.7.11.11 Publication)Alternative name(s): Erythrocyte 65 kDa protein Short name: p65 Kinase deficient protein Protein kinase lysine-deficient 1Imported Protein kinase with no lysine 11 Publication Short name: hWNK1 |
Gene namesi | |
Organismi | Homo sapiens (Human)Imported |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:14540, WNK1 |
MIMi | 605232, gene |
neXtProti | NX_Q9H4A3 |
VEuPathDBi | HostDB:ENSG00000060237 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Pseudohypoaldosteronism 2C (PHA2C)1 Publication
Neuropathy, hereditary sensory and autonomic, 2A (HSAN2A)3 Publications
Keywords - Diseasei
Neurodegeneration, NeuropathyOrganism-specific databases
DisGeNETi | 65125 |
GeneReviewsi | WNK1 |
MalaCardsi | WNK1 |
MIMi | 201300, phenotype 614492, phenotype |
OpenTargetsi | ENSG00000060237 |
Orphaneti | 970, Hereditary sensory and autonomic neuropathy type 2 88940, Pseudohypoaldosteronism type 2C |
PharmGKBi | PA33782 |
Miscellaneous databases
Pharosi | Q9H4A3, Tchem |
Chemistry databases
ChEMBLi | CHEMBL1075173 |
GuidetoPHARMACOLOGYi | 2280 |
Genetic variation databases
BioMutai | WNK1 |
DMDMi | 296453029 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000086819 | 1 – 2382 | Serine/threonine-protein kinase WNK1Add BLAST | 2382 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 19 | PhosphoserineCombined sources | 1 | |
Modified residuei | 167 | PhosphoserineCombined sources | 1 | |
Modified residuei | 174 | PhosphoserineCombined sources | 1 | |
Modified residuei | 378 | Phosphoserine; by autocatalysisBy similarity | 1 | |
Modified residuei | 382 | Phosphoserine; by autocatalysisBy similarity | 1 | |
Modified residuei | 1261 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1978 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2002 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2011 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2012 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2027 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2029 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2032 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2121 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2270 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2286 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2370 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2372 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Glycoprotein, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9H4A3 |
jPOSTi | Q9H4A3 |
MassIVEi | Q9H4A3 |
MaxQBi | Q9H4A3 |
PaxDbi | Q9H4A3 |
PeptideAtlasi | Q9H4A3 |
PRIDEi | Q9H4A3 |
ProteomicsDBi | 80804 [Q9H4A3-1] 80805 [Q9H4A3-2] 80806 [Q9H4A3-4] 80807 [Q9H4A3-5] 80808 [Q9H4A3-6] |
PTM databases
GlyConnecti | 484, 1 O-Linked glycan |
GlyGeni | Q9H4A3, 39 sites, 2 O-linked glycans (39 sites) |
iPTMneti | Q9H4A3 |
MetOSitei | Q9H4A3 |
PhosphoSitePlusi | Q9H4A3 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000060237, Expressed in corpus callosum and 250 other tissues |
ExpressionAtlasi | Q9H4A3, baseline and differential |
Genevisiblei | Q9H4A3, HS |
Organism-specific databases
HPAi | ENSG00000060237, Tissue enhanced (brain) |
Interactioni
Subunit structurei
Binary interactionsi
Q9H4A3
With | #Exp. | IntAct |
---|---|---|
OXSR1 [O95747] | 8 | EBI-457907,EBI-620853 |
PPP1CA [P62136] | 2 | EBI-457907,EBI-357253 |
USP7 [Q93009] | 2 | EBI-457907,EBI-302474 |
Syt2 [P29101] from Rattus norvegicus. | 2 | EBI-457907,EBI-458017 |
GO - Molecular functioni
- phosphatase binding Source: UniProtKB
- protein kinase binding Source: ParkinsonsUK-UCL
Protein-protein interaction databases
BioGRIDi | 122403, 101 interactors |
CORUMi | Q9H4A3 |
DIPi | DIP-32648N |
ELMi | Q9H4A3 |
IntActi | Q9H4A3, 90 interactors |
MINTi | Q9H4A3 |
Chemistry databases
BindingDBi | Q9H4A3 |
Miscellaneous databases
RNActi | Q9H4A3, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q9H4A3 |
BMRBi | Q9H4A3 |
SMRi | Q9H4A3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 221 – 479 | Protein kinasePROSITE-ProRule annotationAdd BLAST | 259 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 81 | DisorderedSequence analysisAdd BLAST | 81 | |
Regioni | 95 – 203 | DisorderedSequence analysisAdd BLAST | 109 | |
Regioni | 488 – 555 | Autoinhibitory domainBy similarityAdd BLAST | 68 | |
Regioni | 573 – 779 | DisorderedSequence analysisAdd BLAST | 207 | |
Regioni | 1018 – 1041 | DisorderedSequence analysisAdd BLAST | 24 | |
Regioni | 1053 – 1119 | DisorderedSequence analysisAdd BLAST | 67 | |
Regioni | 1457 – 1476 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 1733 – 1790 | DisorderedSequence analysisAdd BLAST | 58 | |
Regioni | 1866 – 1948 | DisorderedSequence analysisAdd BLAST | 83 | |
Regioni | 1994 – 2069 | DisorderedSequence analysisAdd BLAST | 76 | |
Regioni | 2101 – 2196 | DisorderedSequence analysisAdd BLAST | 96 | |
Regioni | 2332 – 2352 | DisorderedSequence analysisAdd BLAST | 21 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1 – 17 | Polar residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 49 – 65 | Basic and acidic residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 101 – 115 | Pro residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 152 – 168 | Polar residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 573 – 589 | Basic and acidic residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 590 – 629 | Polar residuesSequence analysisAdd BLAST | 40 | |
Compositional biasi | 636 – 779 | Polar residuesSequence analysisAdd BLAST | 144 | |
Compositional biasi | 1053 – 1092 | Polar residuesSequence analysisAdd BLAST | 40 | |
Compositional biasi | 1096 – 1116 | Basic residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 1733 – 1748 | Polar residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 1871 – 1885 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 1886 – 1906 | Polar residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 1922 – 1948 | Polar residuesSequence analysisAdd BLAST | 27 | |
Compositional biasi | 2030 – 2062 | Polar residuesSequence analysisAdd BLAST | 33 | |
Compositional biasi | 2133 – 2196 | Polar residuesSequence analysisAdd BLAST | 64 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0584, Eukaryota |
GeneTreei | ENSGT00940000155474 |
InParanoidi | Q9H4A3 |
OMAi | PEPNGMT |
OrthoDBi | 27514at2759 |
PhylomeDBi | Q9H4A3 |
TreeFami | TF315363 |
Family and domain databases
InterProi | View protein in InterPro IPR011009, Kinase-like_dom_sf IPR024678, Kinase_OSR1/WNK_CCT IPR000719, Prot_kinase_dom IPR008271, Ser/Thr_kinase_AS |
Pfami | View protein in Pfam PF12202, OSR1_C, 1 hit PF00069, Pkinase, 1 hit |
SMARTi | View protein in SMART SM00220, S_TKc, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS50011, PROTEIN_KINASE_DOM, 1 hit PS00108, PROTEIN_KINASE_ST, 1 hit |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative promoter usage and alternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSGGAAEKQS STPGSLFLSP PAPAPKNGSS SDSSVGEKLG AAAADAVTGR
60 70 80 90 100
TEEYRRRRHT MDKDSRGAAA TTTTTEHRFF RRSVICDSNA TALELPGLPL
110 120 130 140 150
SLPQPSIPAA VPQSAPPEPH REETVTATAT SQVAQQPPAA AAPGEQAVAG
160 170 180 190 200
PAPSTVPSST SKDRPVSQPS LVGSKEEPPP ARSGSGGGSA KEPQEERSQQ
210 220 230 240 250
QDDIEELETK AVGMSNDGRF LKFDIEIGRG SFKTVYKGLD TETTVEVAWC
260 270 280 290 300
ELQDRKLTKS ERQRFKEEAE MLKGLQHPNI VRFYDSWEST VKGKKCIVLV
310 320 330 340 350
TELMTSGTLK TYLKRFKVMK IKVLRSWCRQ ILKGLQFLHT RTPPIIHRDL
360 370 380 390 400
KCDNIFITGP TGSVKIGDLG LATLKRASFA KSVIGTPEFM APEMYEEKYD
410 420 430 440 450
ESVDVYAFGM CMLEMATSEY PYSECQNAAQ IYRRVTSGVK PASFDKVAIP
460 470 480 490 500
EVKEIIEGCI RQNKDERYSI KDLLNHAFFQ EETGVRVELA EEDDGEKIAI
510 520 530 540 550
KLWLRIEDIK KLKGKYKDNE AIEFSFDLER DVPEDVAQEM VESGYVCEGD
560 570 580 590 600
HKTMAKAIKD RVSLIKRKRE QRQLVREEQE KKKQEESSLK QQVEQSSASQ
610 620 630 640 650
TGIKQLPSAS TGIPTASTTS ASVSTQVEPE EPEADQHQQL QYQQPSISVL
660 670 680 690 700
SDGTVDSGQG SSVFTESRVS SQQTVSYGSQ HEQAHSTGTV PGHIPSTVQA
710 720 730 740 750
QSQPHGVYPP SSVAQGQSQG QPSSSSLTGV SSSQPIQHPQ QQQGIQQTAP
760 770 780 790 800
PQQTVQYSLS QTSTSSEATT AQPVSQPQAP QVLPQVSAGK QLPVSQPVPT
810 820 830 840 850
IQGEPQIPVA TQPSVVPVHS GAHFLPVGQP LPTPLLPQYP VSQIPISTPH
860 870 880 890 900
VSTAQTGFSS LPITMAAGIT QPLLTLASSA TTAAIPGVST VVPSQLPTLL
910 920 930 940 950
QPVTQLPSQV HPQLLQPAVQ SMGIPANLGQ AAEVPLSSGD VLYQGFPPRL
960 970 980 990 1000
PPQYPGDSNI APSSNVASVC IHSTVLSPPM PTEVLATPGY FPTVVQPYVE
1010 1020 1030 1040 1050
SNLLVPMGGV GGQVQVSQPG GSLAQAPTTS SQQAVLESTQ GVSQVAPAEP
1060 1070 1080 1090 1100
VAVAQTQATQ PTTLASSVDS AHSDVASGMS DGNENVPSSS GRHEGRTTKR
1110 1120 1130 1140 1150
HYRKSVRSRS RHEKTSRPKL RILNVSNKGD RVVECQLETH NRKMVTFKFD
1160 1170 1180 1190 1200
LDGDNPEEIA TIMVNNDFIL AIERESFVDQ VREIIEKADE MLSEDVSVEP
1210 1220 1230 1240 1250
EGDQGLESLQ GKDDYGFSGS QKLEGEFKQP IPASSMPQQI GIPTSSLTQV
1260 1270 1280 1290 1300
VHSAGRRFIV SPVPESRLRE SKVFPSEITD TVAASTAQSP GMNLSHSASS
1310 1320 1330 1340 1350
LSLQQAFSEL RRAQMTEGPN TAPPNFSHTG PTFPVVPPFL SSIAGVPTTA
1360 1370 1380 1390 1400
AATAPVPATS SPPNDISTSV IQSEVTVPTE EGIAGVATST GVVTSGGLPI
1410 1420 1430 1440 1450
PPVSESPVLS SVVSSITIPA VVSISTTSPS LQVPTSTSEI VVSSTALYPS
1460 1470 1480 1490 1500
VTVSATSASA GGSTATPGPK PPAVVSQQAA GSTTVGATLT SVSTTTSFPS
1510 1520 1530 1540 1550
TASQLCIQLS SSTSTPTLAE TVVVSAHSLD KTSHSSTTGL AFSLSAPSSS
1560 1570 1580 1590 1600
SSPGAGVSSY ISQPGGLHPL VIPSVIASTP ILPQAAGPTS TPLLPQVPSI
1610 1620 1630 1640 1650
PPLVQPVANV PAVQQTLIHS QPQPALLPNQ PHTHCPEVDS DTQPKAPGID
1660 1670 1680 1690 1700
DIKTLEEKLR SLFSEHSSSG AQHASVSLET SLVIESTVTP GIPTTAVAPS
1710 1720 1730 1740 1750
KLLTSTTSTC LPPTNLPLGT VALPVTPVVT PGQVSTPVST TTSGVKPGTA
1760 1770 1780 1790 1800
PSKPPLTKAP VLPVGTELPA GTLPSEQLPP FPGPSLTQSQ QPLEDLDAQL
1810 1820 1830 1840 1850
RRTLSPEMIT VTSAVGPVSM AAPTAITEAG TQPQKGVSQV KEGPVLATSS
1860 1870 1880 1890 1900
GAGVFKMGRF QVSVAADGAQ KEGKNKSEDA KSVHFESSTS ESSVLSSSSP
1910 1920 1930 1940 1950
ESTLVKPEPN GITIPGISSD VPESAHKTTA SEAKSDTGQP TKVGRFQVTT
1960 1970 1980 1990 2000
TANKVGRFSV SKTEDKITDT KKEGPVASPP FMDLEQAVLP AVIPKKEKPE
2010 2020 2030 2040 2050
LSEPSHLNGP SSDPEAAFLS RDVDDGSGSP HSPHQLSSKS LPSQNLSQSL
2060 2070 2080 2090 2100
SNSFNSSYMS SDNESDIEDE DLKLELRRLR DKHLKEIQDL QSRQKHEIES
2110 2120 2130 2140 2150
LYTKLGKVPP AVIIPPAAPL SGRRRRPTKS KGSKSSRSSS LGNKSPQLSG
2160 2170 2180 2190 2200
NLSGQSAASV LHPQQTLHPP GNIPESGQNQ LLQPLKPSPS SDNLYSAFTS
2210 2220 2230 2240 2250
DGAISVPSLS APGQGTSSTN TVGATVNSQA AQAQPPAMTS SRKGTFTDDL
2260 2270 2280 2290 2300
HKLVDNWARD AMNLSGRRGS KGHMNYEGPG MARKFSAPGQ LCISMTSNLG
2310 2320 2330 2340 2350
GSAPISAASA TSLGHFTKSM CPPQQYGFPA TPFGAQWSGT GGPAPQPLGQ
2360 2370 2380
FQPVGTASLQ NFNISNLQKS ISNPPGSNLR TT
The sequence of this isoform differs from the canonical sequence as follows:
1-407: Missing.
408-437: FGMCMLEMATSEYPYSECQNAAQIYRRVTS → MDIKKKDFCSVFVIINSHCCCCPQKDCINE
The sequence of this isoform differs from the canonical sequence as follows:
714-1037: AQGQSQGQPS...TTSSQQAVLE → PRRGRSMSVC...VLPQVSAGKQ
The sequence of this isoform differs from the canonical sequence as follows:
713-713: V → VPQSMAHPCG...SSGGSALHPQ
792-944: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
713-713: V → VPQSMAHPCG...SSGGSALHPQ
2215-2215: G → GCAKFNCASEQVTFKPGGRRTRFLRKMVKKVCPCNQLCR
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5GWT4 | F5GWT4_HUMAN | Non-specific serine/threonine prote... | WNK1 | 2,134 | Annotation score: | ||
F6UYG0 | F6UYG0_HUMAN | Serine/threonine-protein kinase WNK... | WNK1 | 393 | Annotation score: | ||
A0A6Q8PFM0 | A0A6Q8PFM0_HUMAN | Serine/threonine-protein kinase WNK... | WNK1 | 1,531 | Annotation score: | ||
H0YH68 | H0YH68_HUMAN | Serine/threonine-protein kinase WNK... | WNK1 | 194 | Annotation score: | ||
H0YF81 | H0YF81_HUMAN | Serine/threonine-protein kinase WNK... | WNK1 | 76 | Annotation score: | ||
H0YH79 | H0YH79_HUMAN | Serine/threonine-protein kinase WNK... | WNK1 | 176 | Annotation score: | ||
I3L251 | I3L251_HUMAN | Serine/threonine-protein kinase WNK... | WNK1 | 240 | Annotation score: | ||
H0YFP5 | H0YFP5_HUMAN | Serine/threonine-protein kinase WNK... | WNK1 | 245 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 164 | R → S AA sequence (PubMed:2507249).Curated | 1 | |
Sequence conflicti | 1836 | Missing in BAA20802 (PubMed:9205841).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_041309 | 141 | A → T1 PublicationCorresponds to variant dbSNP:rs11554421EnsemblClinVar. | 1 | |
Natural variantiVAR_041310 | 149 | A → V1 PublicationCorresponds to variant dbSNP:rs34880640EnsemblClinVar. | 1 | |
Natural variantiVAR_041311 | 419 | E → Q in a breast pleomorphic lobular carcinoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_041312 | 509 | I → T1 PublicationCorresponds to variant dbSNP:rs34728563EnsemblClinVar. | 1 | |
Natural variantiVAR_041313 | 527 | D → G1 PublicationCorresponds to variant dbSNP:rs34408667Ensembl. | 1 | |
Natural variantiVAR_019992 | 665 | T → I1 PublicationCorresponds to variant dbSNP:rs2286007EnsemblClinVar. | 1 | |
Natural variantiVAR_041314 | 674 | T → A1 PublicationCorresponds to variant dbSNP:rs11833299EnsemblClinVar. | 1 | |
Natural variantiVAR_041315 | 823 | H → R1 PublicationCorresponds to variant dbSNP:rs56015776EnsemblClinVar. | 1 | |
Natural variantiVAR_059033 | 1056 | T → P3 PublicationsCorresponds to variant dbSNP:rs956868EnsemblClinVar. | 1 | |
Natural variantiVAR_035640 | 1199 | E → G in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_059034 | 1506 | C → S3 PublicationsCorresponds to variant dbSNP:rs7955371EnsemblClinVar. | 1 | |
Natural variantiVAR_041316 | 1546 | A → V1 PublicationCorresponds to variant dbSNP:rs56351358EnsemblClinVar. | 1 | |
Natural variantiVAR_035641 | 1799 | Q → E in breast cancer samples; infiltrating ductal carcinoma; somatic mutation. 2 Publications | 1 | |
Natural variantiVAR_041317 | 1808 | M → I3 PublicationsCorresponds to variant dbSNP:rs12828016EnsemblClinVar. | 1 | |
Natural variantiVAR_041318 | 1823 | P → L1 PublicationCorresponds to variant dbSNP:rs17755373EnsemblClinVar. | 1 | |
Natural variantiVAR_041319 | 1957 | R → H1 PublicationCorresponds to variant dbSNP:rs36083875Ensembl. | 1 | |
Natural variantiVAR_041320 | 2190 | S → C in a breast pleomorphic lobular carcinoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_041321 | 2362 | F → L in a lung adenocarcinoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_041322 | 2380 | R → W1 PublicationCorresponds to variant dbSNP:rs56262445EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_050634 | 1 – 407 | Missing in isoform 3. CuratedAdd BLAST | 407 | |
Alternative sequenceiVSP_050637 | 408 – 437 | FGMCM…RRVTS → MDIKKKDFCSVFVIINSHCC CCPQKDCINE in isoform 3. CuratedAdd BLAST | 30 | |
Alternative sequenceiVSP_040267 | 713 | V → VPQSMAHPCGGTPTYPESQI FFPTIHERPVSFSPPPTCPP KVAISQRRKSTSFLEAQTHH FQPLLRTVGQSLLPPGGSPT NWTPEAVVMLGTTASRVTGE SCEIQVHPMFEPSQVYSDYR PGLVLPEEAHYFIPQEAVYV AGVHYQARVAEQYEGIPYNS SVLSSPMKQIPEQKPVQGGP TSSSVFEFPSGQAFLVGHLQ NLRLDSGLGPGSPLSSISAP ISTDATRLKFHPVFVPHSAP AVLTHNNESRSNCVFEFHVH TPSSSSGEGGGILPQRVYRN RQVAVDLNQEELPPQSVGLH GYLQPVTEEKHNYHAPELTV SVVEPIGQNWPIGSPEYSSD SSQITSSDPSDFQSPPPTGG AAAPFGSDVSMPFIHLPQTV LQESPLFFCFPQGTTSQQVL TASFSSGGSALHPQ in isoform 5 and isoform 6. 1 Publication | 1 | |
Alternative sequenceiVSP_040268 | 714 – 1037 | AQGQS…QAVLE → PRRGRSMSVCVPIFLLLPLC PASLPVLFHPTASTVCTSFS FPPPDCPEETFAEKLSKALE SVLPMHSASQRKHRRSSLPS LFVSTPQSMAHPCGGTPTYP ESQIFFPTIHERPVSFSPPP TCPPKVAISQRRKSTSFLEA QTHHFQPLLRTVGQSLLPPG GSPTNWTPEAVVMLGTTASR VTGESCEIQVHPMFEPSQVY SDYRPGLVLPEEAHYFIPQE AVYVAGVHYQARVAEQYEGI PYNSSVLSSPMKQIPEQKPV QGGPTSSSVFEFPSGQAFLV GHLQNLRLDSGLGPGSPLSS ISAPISTDATRLKFHPVFVP HSAPAVLTHNNESRSNCVFE FHVHTPSSSSGEGGGILPQR VYRNRQVAVDLNQEELPPQS VGLHGYLQPVTEEKHNYHAP ELTVSVVEPIGQNWPIGSPE YSSDSSQITSSDPSDFQSPP PTGGAAAPFGSDVSMPFIHL PQTVLQESPLFFCFPQGTTS QQVLTASFSSGGSALHPQAQ GQSQGQPSSSSLTGVSSSQP IQHPQQQQGIQQTAPPQQTV QYSLSQTSTSSEATTAQPVS QPQAPQVLPQVSAGKQ in isoform 4. CuratedAdd BLAST | 324 | |
Alternative sequenceiVSP_040269 | 740 | Missing in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_050638 | 792 – 1037 | Missing in isoform 2. 1 PublicationAdd BLAST | 246 | |
Alternative sequenceiVSP_040270 | 792 – 944 | Missing in isoform 5. CuratedAdd BLAST | 153 | |
Alternative sequenceiVSP_053767 | 2215 | G → GCAKFNCASEQVTFKPGGRR TRFLRKMVKKVCPCNQLCR in isoform 6. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ296290 mRNA Translation: CAC15059.1 JQ358908 mRNA Translation: AEY99342.1 FJ515833 Genomic DNA Translation: ACS13726.1 FJ515833 Genomic DNA Translation: ACS13727.1 FJ515833 Genomic DNA Translation: ACS13728.1 AC004765 Genomic DNA No translation available. AC004803 Genomic DNA No translation available. AF061944 mRNA Translation: AAF31483.1 Sequence problems. AB002342 mRNA Translation: BAA20802.2 AY231477 mRNA Translation: AAO46160.1 BC013629 mRNA Translation: AAH13629.2 BC130467 mRNA Translation: AAI30468.1 Sequence problems. BC130469 mRNA Translation: AAI30470.1 Sequence problems. BK004108 Genomic DNA Translation: DAA04494.1 Sequence problems. |
CCDSi | CCDS73419.1 [Q9H4A3-5] CCDS8506.1 [Q9H4A3-1] |
RefSeqi | NP_001171914.1, NM_001184985.1 [Q9H4A3-6] NP_055638.2, NM_014823.2 NP_061852.3, NM_018979.3 [Q9H4A3-1] NP_998820.3, NM_213655.4 [Q9H4A3-5] XP_016875326.1, XM_017019837.1 XP_016875327.1, XM_017019838.1 [Q9H4A3-2] |
Genome annotation databases
Ensembli | ENST00000315939.11; ENSP00000313059.6; ENSG00000060237.19 ENST00000340908.9; ENSP00000341292.5; ENSG00000060237.19 [Q9H4A3-5] ENST00000530271.6; ENSP00000433548.3; ENSG00000060237.19 [Q9H4A3-7] ENST00000537687.5; ENSP00000444465.1; ENSG00000060237.19 [Q9H4A3-6] ENST00000675631.1; ENSP00000502415.1; ENSG00000060237.19 [Q9H4A3-4] |
GeneIDi | 65125 |
KEGGi | hsa:65125 |
MANE-Selecti | ENST00000315939.11; ENSP00000313059.6; NM_018979.4; NP_061852.3 |
UCSCi | uc001qio.4, human [Q9H4A3-1] |
Keywords - Coding sequence diversityi
Alternative promoter usage, Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ296290 mRNA Translation: CAC15059.1 JQ358908 mRNA Translation: AEY99342.1 FJ515833 Genomic DNA Translation: ACS13726.1 FJ515833 Genomic DNA Translation: ACS13727.1 FJ515833 Genomic DNA Translation: ACS13728.1 AC004765 Genomic DNA No translation available. AC004803 Genomic DNA No translation available. AF061944 mRNA Translation: AAF31483.1 Sequence problems. AB002342 mRNA Translation: BAA20802.2 AY231477 mRNA Translation: AAO46160.1 BC013629 mRNA Translation: AAH13629.2 BC130467 mRNA Translation: AAI30468.1 Sequence problems. BC130469 mRNA Translation: AAI30470.1 Sequence problems. BK004108 Genomic DNA Translation: DAA04494.1 Sequence problems. |
CCDSi | CCDS73419.1 [Q9H4A3-5] CCDS8506.1 [Q9H4A3-1] |
RefSeqi | NP_001171914.1, NM_001184985.1 [Q9H4A3-6] NP_055638.2, NM_014823.2 NP_061852.3, NM_018979.3 [Q9H4A3-1] NP_998820.3, NM_213655.4 [Q9H4A3-5] XP_016875326.1, XM_017019837.1 XP_016875327.1, XM_017019838.1 [Q9H4A3-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4PWN | X-ray | 1.84 | A | 210-482 | [»] | |
5TF9 | X-ray | 2.50 | A/B | 206-483 | [»] | |
5WDY | X-ray | 2.46 | A/B | 206-483 | [»] | |
5WE8 | X-ray | 2.01 | A/B | 206-483 | [»] | |
6FBK | X-ray | 1.74 | P | 1247-1269 | [»] | |
AlphaFoldDBi | Q9H4A3 | |||||
BMRBi | Q9H4A3 | |||||
SMRi | Q9H4A3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 122403, 101 interactors |
CORUMi | Q9H4A3 |
DIPi | DIP-32648N |
ELMi | Q9H4A3 |
IntActi | Q9H4A3, 90 interactors |
MINTi | Q9H4A3 |
Chemistry databases
BindingDBi | Q9H4A3 |
ChEMBLi | CHEMBL1075173 |
GuidetoPHARMACOLOGYi | 2280 |
Protein family/group databases
MoonDBi | Q9H4A3, Predicted |
PTM databases
GlyConnecti | 484, 1 O-Linked glycan |
GlyGeni | Q9H4A3, 39 sites, 2 O-linked glycans (39 sites) |
iPTMneti | Q9H4A3 |
MetOSitei | Q9H4A3 |
PhosphoSitePlusi | Q9H4A3 |
Genetic variation databases
BioMutai | WNK1 |
DMDMi | 296453029 |
Proteomic databases
EPDi | Q9H4A3 |
jPOSTi | Q9H4A3 |
MassIVEi | Q9H4A3 |
MaxQBi | Q9H4A3 |
PaxDbi | Q9H4A3 |
PeptideAtlasi | Q9H4A3 |
PRIDEi | Q9H4A3 |
ProteomicsDBi | 80804 [Q9H4A3-1] 80805 [Q9H4A3-2] 80806 [Q9H4A3-4] 80807 [Q9H4A3-5] 80808 [Q9H4A3-6] |
Protocols and materials databases
Antibodypediai | 22083, 609 antibodies from 42 providers |
DNASUi | 65125 |
Genome annotation databases
Ensembli | ENST00000315939.11; ENSP00000313059.6; ENSG00000060237.19 ENST00000340908.9; ENSP00000341292.5; ENSG00000060237.19 [Q9H4A3-5] ENST00000530271.6; ENSP00000433548.3; ENSG00000060237.19 [Q9H4A3-7] ENST00000537687.5; ENSP00000444465.1; ENSG00000060237.19 [Q9H4A3-6] ENST00000675631.1; ENSP00000502415.1; ENSG00000060237.19 [Q9H4A3-4] |
GeneIDi | 65125 |
KEGGi | hsa:65125 |
MANE-Selecti | ENST00000315939.11; ENSP00000313059.6; NM_018979.4; NP_061852.3 |
UCSCi | uc001qio.4, human [Q9H4A3-1] |
Organism-specific databases
CTDi | 65125 |
DisGeNETi | 65125 |
GeneCardsi | WNK1 |
GeneReviewsi | WNK1 |
HGNCi | HGNC:14540, WNK1 |
HPAi | ENSG00000060237, Tissue enhanced (brain) |
MalaCardsi | WNK1 |
MIMi | 201300, phenotype 605232, gene 614492, phenotype |
neXtProti | NX_Q9H4A3 |
OpenTargetsi | ENSG00000060237 |
Orphaneti | 970, Hereditary sensory and autonomic neuropathy type 2 88940, Pseudohypoaldosteronism type 2C |
PharmGKBi | PA33782 |
VEuPathDBi | HostDB:ENSG00000060237 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0584, Eukaryota |
GeneTreei | ENSGT00940000155474 |
InParanoidi | Q9H4A3 |
OMAi | PEPNGMT |
OrthoDBi | 27514at2759 |
PhylomeDBi | Q9H4A3 |
TreeFami | TF315363 |
Enzyme and pathway databases
PathwayCommonsi | Q9H4A3 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
SignaLinki | Q9H4A3 |
SIGNORi | Q9H4A3 |
Miscellaneous databases
BioGRID-ORCSi | 65125, 563 hits in 1133 CRISPR screens |
ChiTaRSi | WNK1, human |
GeneWikii | WNK1 |
GenomeRNAii | 65125 |
Pharosi | Q9H4A3, Tchem |
PROi | PR:Q9H4A3 |
RNActi | Q9H4A3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000060237, Expressed in corpus callosum and 250 other tissues |
ExpressionAtlasi | Q9H4A3, baseline and differential |
Genevisiblei | Q9H4A3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR011009, Kinase-like_dom_sf IPR024678, Kinase_OSR1/WNK_CCT IPR000719, Prot_kinase_dom IPR008271, Ser/Thr_kinase_AS |
Pfami | View protein in Pfam PF12202, OSR1_C, 1 hit PF00069, Pkinase, 1 hit |
SMARTi | View protein in SMART SM00220, S_TKc, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS50011, PROTEIN_KINASE_DOM, 1 hit PS00108, PROTEIN_KINASE_ST, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | WNK1_HUMAN | |
Accessioni | Q9H4A3Primary (citable) accession number: Q9H4A3 Secondary accession number(s): A1L4B0 Q9P1S9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 2, 2004 |
Last sequence update: | May 18, 2010 | |
Last modified: | May 25, 2022 | |
This is version 213 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human and mouse protein kinases
Human and mouse protein kinases: classification and index - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families