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Q9H4A3

- WNK1_HUMAN

UniProt

Q9H4A3 - WNK1_HUMAN

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Protein

Serine/threonine-protein kinase WNK1

Gene

WNK1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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.2 Publications

Catalytic activityi

ATP + a protein = ADP + a phosphoprotein.

Cofactori

Mg2+1 Publication

Enzyme regulationi

By hypertonicity. Activation requires autophosphorylation of Ser-382. Phosphorylation of Ser-378 also promotes increased activity (By similarity).By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei233 – 2331ATPBy similarityPROSITE-ProRule annotation
Active sitei349 – 3491Proton acceptorPROSITE-ProRule annotation

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi227 – 2359ATPBy similarityPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATP binding Source: UniProtKB
  2. chloride channel inhibitor activity Source: UniProt
  3. phosphatase binding Source: UniProtKB
  4. protein kinase inhibitor activity Source: UniProtKB-KW
  5. protein serine/threonine kinase activity Source: UniProtKB

GO - Biological processi

  1. intracellular signal transduction Source: UniProtKB
  2. ion transport Source: UniProtKB
  3. negative regulation of pancreatic juice secretion Source: Ensembl
  4. negative regulation of phosphatase activity Source: UniProtKB
  5. neuron development Source: UniProtKB
  6. peptidyl-threonine phosphorylation Source: BHF-UCL
  7. positive regulation of systemic arterial blood pressure Source: Ensembl
  8. protein phosphorylation Source: UniProtKB
  9. regulation of cellular process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Protein kinase inhibitor, Serine/threonine-protein kinase, Transferase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.
SignaLinkiQ9H4A3.

Names & Taxonomyi

Protein namesi
Recommended name:
Serine/threonine-protein kinase WNK1 (EC:2.7.11.1)
Alternative name(s):
Erythrocyte 65 kDa protein
Short name:
p65
Kinase deficient protein
Protein kinase lysine-deficient 1
Protein kinase with no lysine 1
Short name:
hWNK1
Gene namesi
Name:WNK1
Synonyms:HSN2, KDP, KIAA0344, PRKWNK1
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:14540. WNK1.

Subcellular locationi

Cytoplasm 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Pseudohypoaldosteronism 2C (PHA2C) [MIM:614492]: An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis in some cases, and correction of physiologic abnormalities by thiazide diuretics.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Neuropathy, hereditary sensory and autonomic, 2A (HSAN2A) [MIM:201300]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2A is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation, onset of symptoms in infancy or early childhood, occurrence of distal extremity pathologies (paronychia, whitlows, ulcers, and Charcot joints), frequent amputations, sensory loss that affects all modalities of sensation (lower and upper limbs and perhaps the trunk as well), absence or diminution of tendon reflexes (usually in all limbs), minimal autonomic dysfunction, absence of sensory nerve action potentials, and virtual absence of myelinated fibers with decreased numbers of unmyelinated fibers in sural nerves.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Neuropathy

Organism-specific databases

MIMi201300. phenotype.
614492. phenotype.
Orphaneti970. Hereditary sensory and autonomic neuropathy type 2.
88940. Pseudohypoaldosteronism type 2C.
PharmGKBiPA134944932.
PA33782.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 23822382Serine/threonine-protein kinase WNK1PRO_0000086819Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei19 – 191Phosphoserine2 Publications
Modified residuei378 – 3781Phosphoserine; by autocatalysisBy similarity
Modified residuei382 – 3821Phosphoserine; by autocatalysisBy similarity
Modified residuei1261 – 12611Phosphoserine3 Publications
Modified residuei1978 – 19781Phosphoserine2 Publications
Modified residuei2002 – 20021Phosphoserine1 Publication
Modified residuei2011 – 20111Phosphoserine1 Publication
Modified residuei2012 – 20121Phosphoserine1 Publication
Modified residuei2027 – 20271Phosphoserine2 Publications
Modified residuei2029 – 20291Phosphoserine2 Publications
Modified residuei2032 – 20321Phosphoserine4 Publications
Modified residuei2121 – 21211Phosphoserine1 Publication

Post-translational modificationi

O-glycosylated.1 Publication
Ubiquitinated in vitro by the BCR(KLHL3) complex and in vivo by a BCR(KLHL2) complex, leading to proteasomal degradation.2 Publications

Keywords - PTMi

Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ9H4A3.
PaxDbiQ9H4A3.
PRIDEiQ9H4A3.

PTM databases

PhosphoSiteiQ9H4A3.

Expressioni

Tissue specificityi

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.4 Publications

Gene expression databases

BgeeiQ9H4A3.
CleanExiHS_WNK1.
ExpressionAtlasiQ9H4A3. baseline and differential.
GenevestigatoriQ9H4A3.

Organism-specific databases

HPAiHPA059157.

Interactioni

Subunit structurei

Interacts with SYT2 (By similarity). Interacts with WNK3 and WNK4 (By similarity). Interacts with KLHL3.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
OXSR1O957472EBI-457907,EBI-620853
PPP1CAP621362EBI-457907,EBI-357253
Syt2P291012EBI-457907,EBI-458017From a different organism.

Protein-protein interaction databases

BioGridi122403. 48 interactions.
DIPiDIP-32648N.
IntActiQ9H4A3. 58 interactions.
MINTiMINT-2879524.

Structurei

Secondary structure

1
2382
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi211 – 2144Combined sources
Beta strandi216 – 2183Combined sources
Beta strandi220 – 2289Combined sources
Beta strandi231 – 24010Combined sources
Turni241 – 2444Combined sources
Beta strandi245 – 2528Combined sources
Helixi266 – 2738Combined sources
Beta strandi283 – 2886Combined sources
Beta strandi297 – 3026Combined sources
Helixi309 – 3168Combined sources
Helixi321 – 34020Combined sources
Beta strandi341 – 3433Combined sources
Helixi352 – 3543Combined sources
Beta strandi355 – 3584Combined sources
Beta strandi364 – 3663Combined sources
Helixi369 – 3713Combined sources
Helixi392 – 3965Combined sources
Helixi402 – 41716Combined sources
Turni421 – 4244Combined sources
Helixi428 – 4358Combined sources
Turni436 – 4383Combined sources
Helixi442 – 4465Combined sources
Helixi450 – 45910Combined sources
Helixi464 – 4663Combined sources
Helixi470 – 4745Combined sources
Helixi477 – 4815Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4PWNX-ray1.84A210-482[»]
ProteinModelPortaliQ9H4A3.
SMRiQ9H4A3. Positions 210-572.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini221 – 479259Protein kinasePROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily.PROSITE-ProRule annotation
Contains 1 protein kinase domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG0515.
GeneTreeiENSGT00550000074385.
HOVERGENiHBG079897.
InParanoidiQ9H4A3.
KOiK08867.
OrthoDBiEOG7KDF8Z.
PhylomeDBiQ9H4A3.
TreeFamiTF315363.

Family and domain databases

InterProiIPR011009. Kinase-like_dom.
IPR024678. Kinase_OSR1/WNK_CCT.
IPR000719. Prot_kinase_dom.
IPR008271. Ser/Thr_kinase_AS.
[Graphical view]
PfamiPF12202. OSR1_C. 1 hit.
PF00069. Pkinase. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 2 hits.
PROSITEiPS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative promoter usage and alternative splicing. Align

Note: WNK1 is a complex 33-exons gene, in total 9 WNK1 exons are alternatively spliced, some expressed in a tissue-specific manner. Additional isoforms seems to exist.

Isoform 11 Publication (identifier: Q9H4A3-1) [UniParc]FASTAAdd to Basket

Also known as: L-WNK1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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

Note: Strong expression in dorsal root ganglia and spinal cord.

Length:2,382
Mass (Da):250,794
Last modified:May 18, 2010 - v2
Checksum:i426785F98A452A0A
GO
Isoform 21 Publication (identifier: Q9H4A3-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     740-740: Missing.
     792-1037: Missing.

Note: No experimental confirmation available.Curated

Show »
Length:2,135
Mass (Da):225,560
Checksum:i2961D903C013A22C
GO
Isoform 3 (identifier: Q9H4A3-4) [UniParc]FASTAAdd to Basket

Also known as: KS-WNK1, Kidney-Specific

The sequence of this isoform differs from the canonical sequence as follows:
     1-407: Missing.
     408-437: FGMCMLEMATSEYPYSECQNAAQIYRRVTS → MDIKKKDFCSVFVIINSHCCCCPQKDCINE

Note: Kinase-defective isoform. Produced by alternative promoter usage and alternative splicing.

Show »
Length:1,975
Mass (Da):206,646
Checksum:iB03B35C0321782D3
GO
Isoform 4 (identifier: Q9H4A3-5) [UniParc]FASTAAdd to Basket

Also known as: Brain and spinal cord variant

The sequence of this isoform differs from the canonical sequence as follows:
     714-1037: AQGQSQGQPS...TTSSQQAVLE → PRRGRSMSVC...VLPQVSAGKQ

Note: Contains the nervous system-specific exon HSN2. Produced by alternative splicing.

Show »
Length:2,634
Mass (Da):279,538
Checksum:i2F95DCDA28619B4C
GO
Isoform 5 (identifier: Q9H4A3-6) [UniParc]FASTAAdd to Basket

Also known as: Dorsal root ganglia and sciatic nerve variant, DRG and sciatic nerve variant

The sequence of this isoform differs from the canonical sequence as follows:
     713-713: V → VPQSMAHPCG...SSGGSALHPQ
     792-944: Missing.

Note: Contains the nervous system-specific exon HSN2. Produced by alternative splicing.

Show »
Length:2,642
Mass (Da):279,713
Checksum:iD0AB5C95ABFF46A4
GO
Isoform 6 (identifier: Q9H4A3-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     713-713: V → VPQSMAHPCG...SSGGSALHPQ
     2215-2215: G → GCAKFNCASEQVTFKPGGRRTRFLRKMVKKVCPCNQLCR

Note: Contains the nervous system-specific exon HSN2. Produced by alternative splicing.

Show »
Length:2,833
Mass (Da):299,725
Checksum:i24CA46FC81669858
GO

Sequence cautioni

The sequence AAF31483.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin in the C-terminal part.Curated
The sequence AAI30468.1 differs from that shown. Reason: Probable cloning artifact.Curated
The sequence AAI30470.1 differs from that shown. Reason: Probable cloning artifact.Curated
The sequence DAA04494.1 differs from that shown. Reason: Erroneous gene model prediction. Includes 3' and 3' intronic sequences.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti164 – 1641R → S AA sequence (PubMed:2507249)Curated
Sequence conflicti1836 – 18361Missing in BAA20802. (PubMed:9205841)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti141 – 1411A → T.1 Publication
Corresponds to variant rs11554421 [ dbSNP | Ensembl ].
VAR_041309
Natural varianti149 – 1491A → V.1 Publication
Corresponds to variant rs34880640 [ dbSNP | Ensembl ].
VAR_041310
Natural varianti419 – 4191E → Q in a breast pleomorphic lobular carcinoma sample; somatic mutation. 1 Publication
VAR_041311
Natural varianti509 – 5091I → T.1 Publication
Corresponds to variant rs34728563 [ dbSNP | Ensembl ].
VAR_041312
Natural varianti527 – 5271D → G.1 Publication
Corresponds to variant rs34408667 [ dbSNP | Ensembl ].
VAR_041313
Natural varianti665 – 6651T → I.1 Publication
Corresponds to variant rs2286007 [ dbSNP | Ensembl ].
VAR_019992
Natural varianti674 – 6741T → A.1 Publication
Corresponds to variant rs11833299 [ dbSNP | Ensembl ].
VAR_041314
Natural varianti823 – 8231H → R.1 Publication
Corresponds to variant rs56015776 [ dbSNP | Ensembl ].
VAR_041315
Natural varianti1056 – 10561T → P.3 Publications
Corresponds to variant rs956868 [ dbSNP | Ensembl ].
VAR_059033
Natural varianti1199 – 11991E → G in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035640
Natural varianti1506 – 15061C → S.3 Publications
Corresponds to variant rs7955371 [ dbSNP | Ensembl ].
VAR_059034
Natural varianti1546 – 15461A → V.1 Publication
Corresponds to variant rs56351358 [ dbSNP | Ensembl ].
VAR_041316
Natural varianti1799 – 17991Q → E in breast cancer samples; infiltrating ductal carcinoma; somatic mutation. 2 Publications
VAR_035641
Natural varianti1808 – 18081M → I.3 Publications
Corresponds to variant rs12828016 [ dbSNP | Ensembl ].
VAR_041317
Natural varianti1823 – 18231P → L.1 Publication
Corresponds to variant rs17755373 [ dbSNP | Ensembl ].
VAR_041318
Natural varianti1957 – 19571R → H.1 Publication
Corresponds to variant rs36083875 [ dbSNP | Ensembl ].
VAR_041319
Natural varianti2190 – 21901S → C in a breast pleomorphic lobular carcinoma sample; somatic mutation. 1 Publication
VAR_041320
Natural varianti2362 – 23621F → L in a lung adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041321
Natural varianti2380 – 23801R → W.1 Publication
Corresponds to variant rs56262445 [ dbSNP | Ensembl ].
VAR_041322

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 407407Missing in isoform 3. CuratedVSP_050634Add
BLAST
Alternative sequencei408 – 43730FGMCM…RRVTS → MDIKKKDFCSVFVIINSHCC CCPQKDCINE in isoform 3. CuratedVSP_050637Add
BLAST
Alternative sequencei713 – 7131V → 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 PublicationVSP_040267
Alternative sequencei714 – 1037324AQGQS…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. CuratedVSP_040268Add
BLAST
Alternative sequencei740 – 7401Missing in isoform 2. 1 PublicationVSP_040269
Alternative sequencei792 – 1037246Missing in isoform 2. 1 PublicationVSP_050638Add
BLAST
Alternative sequencei792 – 944153Missing in isoform 5. CuratedVSP_040270Add
BLAST
Alternative sequencei2215 – 22151G → GCAKFNCASEQVTFKPGGRR TRFLRKMVKKVCPCNQLCR in isoform 6. 1 PublicationVSP_053767

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.
CCDSiCCDS73419.1. [Q9H4A3-5]
CCDS8506.1. [Q9H4A3-1]
RefSeqiNP_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]
UniGeneiHs.744906.

Genome annotation databases

GeneIDi65125.
KEGGihsa:65125.
UCSCiuc001qio.4. human. [Q9H4A3-1]
uc001qir.4. human. [Q9H4A3-2]
uc021qss.1. human. [Q9H4A3-6]
uc021qst.1. human. [Q9H4A3-5]

Polymorphism databases

DMDMi296453029.

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Polymorphism

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 ]
UniGenei Hs.744906.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4PWN X-ray 1.84 A 210-482 [» ]
ProteinModelPortali Q9H4A3.
SMRi Q9H4A3. Positions 210-572.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122403. 48 interactions.
DIPi DIP-32648N.
IntActi Q9H4A3. 58 interactions.
MINTi MINT-2879524.

Chemistry

BindingDBi Q9H4A3.
ChEMBLi CHEMBL1075173.

PTM databases

PhosphoSitei Q9H4A3.

Polymorphism databases

DMDMi 296453029.

Proteomic databases

MaxQBi Q9H4A3.
PaxDbi Q9H4A3.
PRIDEi Q9H4A3.

Protocols and materials databases

DNASUi 65125.
Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 65125.
KEGGi hsa:65125.
UCSCi uc001qio.4. human. [Q9H4A3-1 ]
uc001qir.4. human. [Q9H4A3-2 ]
uc021qss.1. human. [Q9H4A3-6 ]
uc021qst.1. human. [Q9H4A3-5 ]

Organism-specific databases

CTDi 65125.
GeneCardsi GC12P000862.
GeneReviewsi WNK1.
H-InvDB HIX0010312.
HGNCi HGNC:14540. WNK1.
HPAi HPA059157.
MIMi 201300. phenotype.
605232. gene.
614492. phenotype.
neXtProti NX_Q9H4A3.
Orphaneti 970. Hereditary sensory and autonomic neuropathy type 2.
88940. Pseudohypoaldosteronism type 2C.
PharmGKBi PA134944932.
PA33782.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0515.
GeneTreei ENSGT00550000074385.
HOVERGENi HBG079897.
InParanoidi Q9H4A3.
KOi K08867.
OrthoDBi EOG7KDF8Z.
PhylomeDBi Q9H4A3.
TreeFami TF315363.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.
SignaLinki Q9H4A3.

Miscellaneous databases

ChiTaRSi WNK1. human.
GeneWikii WNK1.
GenomeRNAii 65125.
NextBioi 35528002.
PROi Q9H4A3.
SOURCEi Search...

Gene expression databases

Bgeei Q9H4A3.
CleanExi HS_WNK1.
ExpressionAtlasi Q9H4A3. baseline and differential.
Genevestigatori Q9H4A3.

Family and domain databases

InterProi IPR011009. Kinase-like_dom.
IPR024678. Kinase_OSR1/WNK_CCT.
IPR000719. Prot_kinase_dom.
IPR008271. Ser/Thr_kinase_AS.
[Graphical view ]
Pfami PF12202. OSR1_C. 1 hit.
PF00069. Pkinase. 1 hit.
[Graphical view ]
SUPFAMi SSF56112. SSF56112. 2 hits.
PROSITEi PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "WNK kinases, a novel protein kinase subfamily in multi-cellular organisms."
    Verissimo F., Jordan P.
    Oncogene 20:5562-5569(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, CHROMOSOMAL LOCATION, VARIANTS PRO-1056; SER-1506 AND ILE-1808.
    Tissue: HeartImported.
  2. "A new methodology for quantification of alternatively spliced exons reveals a highly tissue-specific expression pattern of WNK1 isoforms."
    Vidal-Petiot E., Cheval L., Faugeroux J., Malard T., Doucet A., Jeunemaitre X., Hadchouel J.
    PLoS ONE 7:E37751-E37751(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
    Tissue: Neuron.
  3. NHLBI resequencing and genotyping service (RS&G)
    Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PRO-1056; SER-1506 AND ILE-1808.
  4. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "PSK, a novel STE20-like kinase derived from prostatic carcinoma that activates the JNK MAPK pathway and regulates actin cytoskeletal organisation."
    Moore T.M., Garg R., Johnson C., Coptcoat M.J., Ridley A.J., Morris J.D.H.
    J. Biol. Chem. 275:4311-4322(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-668 (ISOFORMS 1/2), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: Mammary carcinoma.
  6. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 69-2382 (ISOFORM 2), VARIANTS PRO-1056 AND SER-1506.
    Tissue: BrainImported.
  7. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION TO N-TERMINUS.
  8. "Nucleoplasmic and cytoplasmic glycoproteins."
    Hart G.W., Haltiwanger R.S., Holt G.D., Kelly W.G.
    Ciba Found. Symp. 145:102-118(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 163-175, GLYCOSYLATION.
  9. "Multiple promoters in the WNK1 gene: one controls expression of a kidney-specific kinase-defective isoform."
    Delaloy C., Lu J., Houot A.-M., Disse-Nicodeme S., Gasc J.-M., Corvol P., Jeunemaitre X.
    Mol. Cell. Biol. 23:9208-9221(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (N-TERMINUS OF ISOFORM 3), ALTERNATIVE PROMOTER USAGE, ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
    Tissue: Kidney1 Publication.
  10. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1/4/5).
    Tissue: Placenta1 Publication.
  11. Cited for: IDENTIFICATION (ISOFORMS 4/5), FUNCTION, INVOLVEMENT IN HSAN2A.
  12. Cited for: INVOLVEMENT IN PHA2C.
  13. Cited for: INVOLVEMENT IN HSAN2A.
  14. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2002 AND SER-2032, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  15. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1261, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  16. "Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II."
    Shekarabi M., Girard N., Riviere J.B., Dion P., Houle M., Toulouse A., Lafreniere R.G., Vercauteren F., Hince P., Laganiere J., Rochefort D., Faivre L., Samuels M., Rouleau G.A.
    J. Clin. Invest. 118:2496-2505(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING (ISOFORMS 4 AND 5), INVOLVEMENT IN HSAN2A.
  17. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
    Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
    J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  18. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19; SER-1261; SER-2011; SER-2012; SER-2027; SER-2029 AND SER-2032, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  19. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  20. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1978, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  21. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19; SER-1261; SER-1978; SER-2032 AND SER-2121, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  22. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  23. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2027; SER-2029 AND SER-2032, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  24. Cited for: UBIQUITINATION BY KLHL2.
  25. "The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction."
    Ohta A., Schumacher F.R., Mehellou Y., Johnson C., Knebel A., Macartney T.J., Wood N.T., Alessi D.R., Kurz T.
    Biochem. J. 451:111-122(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH KLHL3.
  26. "Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4."
    Shibata S., Zhang J., Puthumana J., Stone K.L., Lifton R.P.
    Proc. Natl. Acad. Sci. U.S.A. 110:7838-7843(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: UBIQUITINATION, INTERACTION WITH KLHL3.
  27. Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLY-1199 AND GLU-1799.
  28. "Patterns of somatic mutation in human cancer genomes."
    Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
    , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
    Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-141; VAL-149; GLN-419; THR-509; GLY-527; ILE-665; ALA-674; ARG-823; VAL-1546; GLU-1799; ILE-1808; LEU-1823; HIS-1957; CYS-2190; LEU-2362 AND TRP-2380.

Entry informationi

Entry nameiWNK1_HUMAN
AccessioniPrimary (citable) accession number: Q9H4A3
Secondary accession number(s): A1L4B0
, C5HTZ5, C5HTZ6, C5HTZ7, H6WZW3, O15052, P54963, Q4VBX9, Q6IFS5, Q86WL5, Q8N673, Q96CZ6, Q9P1S9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 2, 2004
Last sequence update: May 18, 2010
Last modified: November 26, 2014
This is version 148 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3