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Q9H4A3

- WNK1_HUMAN

UniProt

Q9H4A3 - WNK1_HUMAN

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
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    • History
      Entry version 146 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    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

    Magnesium.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 binding Source: IntAct
    5. protein kinase inhibitor activity Source: UniProtKB-KW
    6. 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

    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: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:14540. WNK1.

    Subcellular locationi

    Cytoplasm 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB

    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

    ArrayExpressiQ9H4A3.
    BgeeiQ9H4A3.
    CleanExiHS_WNK1.
    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. 44 interactions.
    DIPiDIP-32648N.
    IntActiQ9H4A3. 58 interactions.
    MINTiMINT-2879524.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    MSGGAAEKQS STPGSLFLSP PAPAPKNGSS SDSSVGEKLG AAAADAVTGR     50
    TEEYRRRRHT MDKDSRGAAA TTTTTEHRFF RRSVICDSNA TALELPGLPL 100
    SLPQPSIPAA VPQSAPPEPH REETVTATAT SQVAQQPPAA AAPGEQAVAG 150
    PAPSTVPSST SKDRPVSQPS LVGSKEEPPP ARSGSGGGSA KEPQEERSQQ 200
    QDDIEELETK AVGMSNDGRF LKFDIEIGRG SFKTVYKGLD TETTVEVAWC 250
    ELQDRKLTKS ERQRFKEEAE MLKGLQHPNI VRFYDSWEST VKGKKCIVLV 300
    TELMTSGTLK TYLKRFKVMK IKVLRSWCRQ ILKGLQFLHT RTPPIIHRDL 350
    KCDNIFITGP TGSVKIGDLG LATLKRASFA KSVIGTPEFM APEMYEEKYD 400
    ESVDVYAFGM CMLEMATSEY PYSECQNAAQ IYRRVTSGVK PASFDKVAIP 450
    EVKEIIEGCI RQNKDERYSI KDLLNHAFFQ EETGVRVELA EEDDGEKIAI 500
    KLWLRIEDIK KLKGKYKDNE AIEFSFDLER DVPEDVAQEM VESGYVCEGD 550
    HKTMAKAIKD RVSLIKRKRE QRQLVREEQE KKKQEESSLK QQVEQSSASQ 600
    TGIKQLPSAS TGIPTASTTS ASVSTQVEPE EPEADQHQQL QYQQPSISVL 650
    SDGTVDSGQG SSVFTESRVS SQQTVSYGSQ HEQAHSTGTV PGHIPSTVQA 700
    QSQPHGVYPP SSVAQGQSQG QPSSSSLTGV SSSQPIQHPQ QQQGIQQTAP 750
    PQQTVQYSLS QTSTSSEATT AQPVSQPQAP QVLPQVSAGK QLPVSQPVPT 800
    IQGEPQIPVA TQPSVVPVHS GAHFLPVGQP LPTPLLPQYP VSQIPISTPH 850
    VSTAQTGFSS LPITMAAGIT QPLLTLASSA TTAAIPGVST VVPSQLPTLL 900
    QPVTQLPSQV HPQLLQPAVQ SMGIPANLGQ AAEVPLSSGD VLYQGFPPRL 950
    PPQYPGDSNI APSSNVASVC IHSTVLSPPM PTEVLATPGY FPTVVQPYVE 1000
    SNLLVPMGGV GGQVQVSQPG GSLAQAPTTS SQQAVLESTQ GVSQVAPAEP 1050
    VAVAQTQATQ PTTLASSVDS AHSDVASGMS DGNENVPSSS GRHEGRTTKR 1100
    HYRKSVRSRS RHEKTSRPKL RILNVSNKGD RVVECQLETH NRKMVTFKFD 1150
    LDGDNPEEIA TIMVNNDFIL AIERESFVDQ VREIIEKADE MLSEDVSVEP 1200
    EGDQGLESLQ GKDDYGFSGS QKLEGEFKQP IPASSMPQQI GIPTSSLTQV 1250
    VHSAGRRFIV SPVPESRLRE SKVFPSEITD TVAASTAQSP GMNLSHSASS 1300
    LSLQQAFSEL RRAQMTEGPN TAPPNFSHTG PTFPVVPPFL SSIAGVPTTA 1350
    AATAPVPATS SPPNDISTSV IQSEVTVPTE EGIAGVATST GVVTSGGLPI 1400
    PPVSESPVLS SVVSSITIPA VVSISTTSPS LQVPTSTSEI VVSSTALYPS 1450
    VTVSATSASA GGSTATPGPK PPAVVSQQAA GSTTVGATLT SVSTTTSFPS 1500
    TASQLCIQLS SSTSTPTLAE TVVVSAHSLD KTSHSSTTGL AFSLSAPSSS 1550
    SSPGAGVSSY ISQPGGLHPL VIPSVIASTP ILPQAAGPTS TPLLPQVPSI 1600
    PPLVQPVANV PAVQQTLIHS QPQPALLPNQ PHTHCPEVDS DTQPKAPGID 1650
    DIKTLEEKLR SLFSEHSSSG AQHASVSLET SLVIESTVTP GIPTTAVAPS 1700
    KLLTSTTSTC LPPTNLPLGT VALPVTPVVT PGQVSTPVST TTSGVKPGTA 1750
    PSKPPLTKAP VLPVGTELPA GTLPSEQLPP FPGPSLTQSQ QPLEDLDAQL 1800
    RRTLSPEMIT VTSAVGPVSM AAPTAITEAG TQPQKGVSQV KEGPVLATSS 1850
    GAGVFKMGRF QVSVAADGAQ KEGKNKSEDA KSVHFESSTS ESSVLSSSSP 1900
    ESTLVKPEPN GITIPGISSD VPESAHKTTA SEAKSDTGQP TKVGRFQVTT 1950
    TANKVGRFSV SKTEDKITDT KKEGPVASPP FMDLEQAVLP AVIPKKEKPE 2000
    LSEPSHLNGP SSDPEAAFLS RDVDDGSGSP HSPHQLSSKS LPSQNLSQSL 2050
    SNSFNSSYMS SDNESDIEDE DLKLELRRLR DKHLKEIQDL QSRQKHEIES 2100
    LYTKLGKVPP AVIIPPAAPL SGRRRRPTKS KGSKSSRSSS LGNKSPQLSG 2150
    NLSGQSAASV LHPQQTLHPP GNIPESGQNQ LLQPLKPSPS SDNLYSAFTS 2200
    DGAISVPSLS APGQGTSSTN TVGATVNSQA AQAQPPAMTS SRKGTFTDDL 2250
    HKLVDNWARD AMNLSGRRGS KGHMNYEGPG MARKFSAPGQ LCISMTSNLG 2300
    GSAPISAASA TSLGHFTKSM CPPQQYGFPA TPFGAQWSGT GGPAPQPLGQ 2350
    FQPVGTASLQ NFNISNLQKS ISNPPGSNLR TT 2382

    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.
    The sequence AAI30468.1 differs from that shown. Reason: Probable cloning artifact.
    The sequence AAI30470.1 differs from that shown. Reason: Probable cloning artifact.
    The sequence DAA04494.1 differs from that shown. Reason: Erroneous gene model prediction. Includes 3' and 3' intronic sequences.

    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:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSiCCDS8506.1. [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

    EnsembliENST00000315939; ENSP00000313059; ENSG00000060237. [Q9H4A3-1]
    ENST00000340908; ENSP00000341292; ENSG00000060237. [Q9H4A3-4]
    ENST00000537687; ENSP00000444465; ENSG00000060237. [Q9H4A3-6]
    ENST00000574564; ENSP00000460651; ENSG00000060237.
    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:
    EMBL
    GenBank
    DDBJ
    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 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:
    PDBe
    RCSB PDB
    PDBj
    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. 44 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

    Ensembli ENST00000315939 ; ENSP00000313059 ; ENSG00000060237 . [Q9H4A3-1 ]
    ENST00000340908 ; ENSP00000341292 ; ENSG00000060237 . [Q9H4A3-4 ]
    ENST00000537687 ; ENSP00000444465 ; ENSG00000060237 . [Q9H4A3-6 ]
    ENST00000574564 ; ENSP00000460651 ; ENSG00000060237 .
    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.
    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

    ArrayExpressi Q9H4A3.
    Bgeei Q9H4A3.
    CleanExi HS_WNK1.
    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

    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: October 1, 2014
    This is version 146 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