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Q9H4A3 (WNK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 141. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:WNK1
Synonyms:HSN2, KDP, KIAA0344, PRKWNK1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2382 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.5 Ref.11

Catalytic activity

ATP + a protein = ADP + a phosphoprotein.

Cofactor

Magnesium. Ref.5

Enzyme regulation

By hypertonicity. Activation requires autophosphorylation of Ser-382. Phosphorylation of Ser-378 also promotes increased activity By similarity. UniProtKB Q9JIH7

Subunit structure

Interacts with SYT2 By similarity. Interacts with WNK3 and WNK4 By similarity. Interacts with KLHL3. Ref.24 Ref.25

Subcellular location

Cytoplasm Ref.5.

Tissue specificity

Widely expressed, with highest levels observed in the testis, heart, kidney and skeletal muscle. Isoform 3 is kidney-specific and specifically expressed in the distal convoluted tubule (DCT) and connecting tubule (CNT) of the nephron. Ref.1 Ref.2 Ref.5 Ref.9

Post-translational modification

O-glycosylated. Ref.8

Ubiquitinated in vitro by the BCR(KLHL3) complex; additional evidences are required in vivo. Ref.25

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.13 Ref.16

Sequence similarities

Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily.

Contains 1 protein kinase domain.

Caution

Ref.8 describes a peptide sequence containing a GlcNAc glycosylated Ser in position 164 while it is an Arg residue according to others.

Cys-250 is present instead of the conserved Lys which is expected to be an active site residue. Lys-233 appears to fulfill the required catalytic function. UniProtKB Q9JIH7

HSN2 was originally thought to be an intronless gene lying within a WNK1 gene intron. It has been shown to be a nervous system-specific exon of WNK1 included in isoform 4 and isoform 5 (Ref.16).

It is uncertain whether Met-1 or Met-214 is the initiator in isoform 4 and isoform 5.

Sequence caution

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.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative promoter usage
Alternative splicing
Polymorphism
   DiseaseNeuropathy
   LigandATP-binding
Nucleotide-binding
   Molecular functionKinase
Protein kinase inhibitor
Serine/threonine-protein kinase
Transferase
   PTMGlycoprotein
Phosphoprotein
Ubl conjugation
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processintracellular signal transduction

Inferred from direct assay Ref.5. Source: UniProtKB

ion transport

Inferred from electronic annotation. Source: Ensembl

negative regulation of pancreatic juice secretion

Inferred from electronic annotation. Source: Ensembl

negative regulation of phosphatase activity

Inferred from direct assay PubMed 19389623. Source: UniProtKB

neuron development

Non-traceable author statement Ref.11. Source: UniProtKB

positive regulation of systemic arterial blood pressure

Inferred from electronic annotation. Source: Ensembl

protein phosphorylation

Inferred from direct assay Ref.5. Source: UniProtKB

regulation of cellular process

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from direct assay Ref.5. Source: UniProtKB

   Molecular_functionATP binding

Inferred from electronic annotation. Source: InterPro

chloride channel inhibitor activity

Inferred from direct assay PubMed 17673510. Source: UniProt

phosphatase binding

Inferred from direct assay PubMed 19389623. Source: UniProtKB

protein kinase activity

Inferred from electronic annotation. Source: Ensembl

protein kinase inhibitor activity

Inferred from electronic annotation. Source: UniProtKB-KW

protein serine/threonine kinase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

OXSR1O957472EBI-457907,EBI-620853
PPP1CAP621362EBI-457907,EBI-357253
Syt2P291012EBI-457907,EBI-458017From a different organism.

Alternative products

This entry describes 6 isoforms produced by alternative promoter usage and alternative splicing. [Align] [Select]

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 1 Ref.1 (identifier: Q9H4A3-1)

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.
Note: Strong expression in dorsal root ganglia and spinal cord.
Isoform 2 Ref.6 (identifier: Q9H4A3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     740-740: Missing.
     792-1037: Missing.
Note: No experimental confirmation available.
Isoform 3 Ref.6 (identifier: Q9H4A3-4)

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.
Isoform 4 Ref.6 (identifier: Q9H4A3-5)

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.
Isoform 5 (identifier: Q9H4A3-6)

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.
Isoform 6 (identifier: Q9H4A3-7)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 23822382Serine/threonine-protein kinase WNK1
PRO_0000086819

Regions

Domain221 – 479259Protein kinase
Nucleotide binding227 – 2359ATP By similarity UniProtKB Q8TDX7

Sites

Active site3491Proton acceptor By similarity UniProtKB Q8TDX7
Binding site2331ATP By similarity UniProtKB Q9JIH7

Amino acid modifications

Modified residue191Phosphoserine Ref.18 Ref.21
Modified residue3781Phosphoserine; by autocatalysis By similarity UniProtKB Q9JIH7
Modified residue3821Phosphoserine; by autocatalysis By similarity UniProtKB Q9JIH7
Modified residue12611Phosphoserine Ref.15 Ref.18 Ref.21
Modified residue19781Phosphoserine Ref.20 Ref.21
Modified residue20021Phosphoserine Ref.14
Modified residue20111Phosphoserine Ref.18
Modified residue20121Phosphoserine Ref.18
Modified residue20271Phosphoserine Ref.18 Ref.23
Modified residue20291Phosphoserine Ref.18 Ref.23
Modified residue20321Phosphoserine Ref.14 Ref.18 Ref.21 Ref.23
Modified residue21211Phosphoserine Ref.21

Natural variations

Alternative sequence1 – 407407Missing in isoform 3. Ref.6
VSP_050634
Alternative sequence408 – 43730FGMCM…RRVTS → MDIKKKDFCSVFVIINSHCC CCPQKDCINE in isoform 3. Ref.6
VSP_050637
Alternative sequence7131V → 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.
VSP_040267
Alternative sequence714 – 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.
VSP_040268
Alternative sequence7401Missing in isoform 2.
VSP_040269
Alternative sequence792 – 1037246Missing in isoform 2. Ref.6
VSP_050638
Alternative sequence792 – 944153Missing in isoform 5.
VSP_040270
Alternative sequence22151G → GCAKFNCASEQVTFKPGGRR TRFLRKMVKKVCPCNQLCR in isoform 6.
VSP_053767
Natural variant1411A → T. Ref.27
Corresponds to variant rs11554421 [ dbSNP | Ensembl ].
VAR_041309
Natural variant1491A → V. Ref.27
Corresponds to variant rs34880640 [ dbSNP | Ensembl ].
VAR_041310
Natural variant4191E → Q in a breast pleomorphic lobular carcinoma sample; somatic mutation. Ref.27
VAR_041311
Natural variant5091I → T. Ref.27
Corresponds to variant rs34728563 [ dbSNP | Ensembl ].
VAR_041312
Natural variant5271D → G. Ref.27
Corresponds to variant rs34408667 [ dbSNP | Ensembl ].
VAR_041313
Natural variant6651T → I. Ref.27
Corresponds to variant rs2286007 [ dbSNP | Ensembl ].
VAR_019992
Natural variant6741T → A. Ref.27
Corresponds to variant rs11833299 [ dbSNP | Ensembl ].
VAR_041314
Natural variant8231H → R. Ref.27
Corresponds to variant rs56015776 [ dbSNP | Ensembl ].
VAR_041315
Natural variant10561T → P. Ref.1 Ref.3 Ref.6
Corresponds to variant rs956868 [ dbSNP | Ensembl ].
VAR_059033
Natural variant11991E → G in a colorectal cancer sample; somatic mutation. Ref.26
VAR_035640
Natural variant15061C → S. Ref.1 Ref.3 Ref.6
Corresponds to variant rs7955371 [ dbSNP | Ensembl ].
VAR_059034
Natural variant15461A → V. Ref.27
Corresponds to variant rs56351358 [ dbSNP | Ensembl ].
VAR_041316
Natural variant17991Q → E in breast cancer samples; infiltrating ductal carcinoma; somatic mutation. Ref.26 Ref.27
VAR_035641
Natural variant18081M → I. Ref.1 Ref.3 Ref.27
Corresponds to variant rs12828016 [ dbSNP | Ensembl ].
VAR_041317
Natural variant18231P → L. Ref.27
Corresponds to variant rs17755373 [ dbSNP | Ensembl ].
VAR_041318
Natural variant19571R → H. Ref.27
Corresponds to variant rs36083875 [ dbSNP | Ensembl ].
VAR_041319
Natural variant21901S → C in a breast pleomorphic lobular carcinoma sample; somatic mutation. Ref.27
VAR_041320
Natural variant23621F → L in a lung adenocarcinoma sample; somatic mutation. Ref.27
VAR_041321
Natural variant23801R → W. Ref.27
Corresponds to variant rs56262445 [ dbSNP | Ensembl ].
VAR_041322

Experimental info

Sequence conflict1641R → S AA sequence Ref.8
Sequence conflict18361Missing in BAA20802. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (L-WNK1) [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 426785F98A452A0A

FASTA2,382250,794
        10         20         30         40         50         60 
MSGGAAEKQS STPGSLFLSP PAPAPKNGSS SDSSVGEKLG AAAADAVTGR TEEYRRRRHT 

        70         80         90        100        110        120 
MDKDSRGAAA TTTTTEHRFF RRSVICDSNA TALELPGLPL SLPQPSIPAA VPQSAPPEPH 

       130        140        150        160        170        180 
REETVTATAT SQVAQQPPAA AAPGEQAVAG PAPSTVPSST SKDRPVSQPS LVGSKEEPPP 

       190        200        210        220        230        240 
ARSGSGGGSA KEPQEERSQQ QDDIEELETK AVGMSNDGRF LKFDIEIGRG SFKTVYKGLD 

       250        260        270        280        290        300 
TETTVEVAWC ELQDRKLTKS ERQRFKEEAE MLKGLQHPNI VRFYDSWEST VKGKKCIVLV 

       310        320        330        340        350        360 
TELMTSGTLK TYLKRFKVMK IKVLRSWCRQ ILKGLQFLHT RTPPIIHRDL KCDNIFITGP 

       370        380        390        400        410        420 
TGSVKIGDLG LATLKRASFA KSVIGTPEFM APEMYEEKYD ESVDVYAFGM CMLEMATSEY 

       430        440        450        460        470        480 
PYSECQNAAQ IYRRVTSGVK PASFDKVAIP EVKEIIEGCI RQNKDERYSI KDLLNHAFFQ 

       490        500        510        520        530        540 
EETGVRVELA EEDDGEKIAI KLWLRIEDIK KLKGKYKDNE AIEFSFDLER DVPEDVAQEM 

       550        560        570        580        590        600 
VESGYVCEGD HKTMAKAIKD RVSLIKRKRE QRQLVREEQE KKKQEESSLK QQVEQSSASQ 

       610        620        630        640        650        660 
TGIKQLPSAS TGIPTASTTS ASVSTQVEPE EPEADQHQQL QYQQPSISVL SDGTVDSGQG 

       670        680        690        700        710        720 
SSVFTESRVS SQQTVSYGSQ HEQAHSTGTV PGHIPSTVQA QSQPHGVYPP SSVAQGQSQG 

       730        740        750        760        770        780 
QPSSSSLTGV SSSQPIQHPQ QQQGIQQTAP PQQTVQYSLS QTSTSSEATT AQPVSQPQAP 

       790        800        810        820        830        840 
QVLPQVSAGK QLPVSQPVPT IQGEPQIPVA TQPSVVPVHS GAHFLPVGQP LPTPLLPQYP 

       850        860        870        880        890        900 
VSQIPISTPH VSTAQTGFSS LPITMAAGIT QPLLTLASSA TTAAIPGVST VVPSQLPTLL 

       910        920        930        940        950        960 
QPVTQLPSQV HPQLLQPAVQ SMGIPANLGQ AAEVPLSSGD VLYQGFPPRL PPQYPGDSNI 

       970        980        990       1000       1010       1020 
APSSNVASVC IHSTVLSPPM PTEVLATPGY FPTVVQPYVE SNLLVPMGGV GGQVQVSQPG 

      1030       1040       1050       1060       1070       1080 
GSLAQAPTTS SQQAVLESTQ GVSQVAPAEP VAVAQTQATQ PTTLASSVDS AHSDVASGMS 

      1090       1100       1110       1120       1130       1140 
DGNENVPSSS GRHEGRTTKR HYRKSVRSRS RHEKTSRPKL RILNVSNKGD RVVECQLETH 

      1150       1160       1170       1180       1190       1200 
NRKMVTFKFD LDGDNPEEIA TIMVNNDFIL AIERESFVDQ VREIIEKADE MLSEDVSVEP 

      1210       1220       1230       1240       1250       1260 
EGDQGLESLQ GKDDYGFSGS QKLEGEFKQP IPASSMPQQI GIPTSSLTQV VHSAGRRFIV 

      1270       1280       1290       1300       1310       1320 
SPVPESRLRE SKVFPSEITD TVAASTAQSP GMNLSHSASS LSLQQAFSEL RRAQMTEGPN 

      1330       1340       1350       1360       1370       1380 
TAPPNFSHTG PTFPVVPPFL SSIAGVPTTA AATAPVPATS SPPNDISTSV IQSEVTVPTE 

      1390       1400       1410       1420       1430       1440 
EGIAGVATST GVVTSGGLPI PPVSESPVLS SVVSSITIPA VVSISTTSPS LQVPTSTSEI 

      1450       1460       1470       1480       1490       1500 
VVSSTALYPS VTVSATSASA GGSTATPGPK PPAVVSQQAA GSTTVGATLT SVSTTTSFPS 

      1510       1520       1530       1540       1550       1560 
TASQLCIQLS SSTSTPTLAE TVVVSAHSLD KTSHSSTTGL AFSLSAPSSS SSPGAGVSSY 

      1570       1580       1590       1600       1610       1620 
ISQPGGLHPL VIPSVIASTP ILPQAAGPTS TPLLPQVPSI PPLVQPVANV PAVQQTLIHS 

      1630       1640       1650       1660       1670       1680 
QPQPALLPNQ PHTHCPEVDS DTQPKAPGID DIKTLEEKLR SLFSEHSSSG AQHASVSLET 

      1690       1700       1710       1720       1730       1740 
SLVIESTVTP GIPTTAVAPS KLLTSTTSTC LPPTNLPLGT VALPVTPVVT PGQVSTPVST 

      1750       1760       1770       1780       1790       1800 
TTSGVKPGTA PSKPPLTKAP VLPVGTELPA GTLPSEQLPP FPGPSLTQSQ QPLEDLDAQL 

      1810       1820       1830       1840       1850       1860 
RRTLSPEMIT VTSAVGPVSM AAPTAITEAG TQPQKGVSQV KEGPVLATSS GAGVFKMGRF 

      1870       1880       1890       1900       1910       1920 
QVSVAADGAQ KEGKNKSEDA KSVHFESSTS ESSVLSSSSP ESTLVKPEPN GITIPGISSD 

      1930       1940       1950       1960       1970       1980 
VPESAHKTTA SEAKSDTGQP TKVGRFQVTT TANKVGRFSV SKTEDKITDT KKEGPVASPP 

      1990       2000       2010       2020       2030       2040 
FMDLEQAVLP AVIPKKEKPE LSEPSHLNGP SSDPEAAFLS RDVDDGSGSP HSPHQLSSKS 

      2050       2060       2070       2080       2090       2100 
LPSQNLSQSL SNSFNSSYMS SDNESDIEDE DLKLELRRLR DKHLKEIQDL QSRQKHEIES 

      2110       2120       2130       2140       2150       2160 
LYTKLGKVPP AVIIPPAAPL SGRRRRPTKS KGSKSSRSSS LGNKSPQLSG NLSGQSAASV 

      2170       2180       2190       2200       2210       2220 
LHPQQTLHPP GNIPESGQNQ LLQPLKPSPS SDNLYSAFTS DGAISVPSLS APGQGTSSTN 

      2230       2240       2250       2260       2270       2280 
TVGATVNSQA AQAQPPAMTS SRKGTFTDDL HKLVDNWARD AMNLSGRRGS KGHMNYEGPG 

      2290       2300       2310       2320       2330       2340 
MARKFSAPGQ LCISMTSNLG GSAPISAASA TSLGHFTKSM CPPQQYGFPA TPFGAQWSGT 

      2350       2360       2370       2380 
GGPAPQPLGQ FQPVGTASLQ NFNISNLQKS ISNPPGSNLR TT 

« Hide

Isoform 2 [UniParc].

Checksum: 2961D903C013A22C
Show »

FASTA2,135225,560
Isoform 3 (KS-WNK1) (Kidney-Specific) [UniParc].

Checksum: B03B35C0321782D3
Show »

FASTA1,975206,646
Isoform 4 (Brain and spinal cord variant) [UniParc].

Checksum: 2F95DCDA28619B4C
Show »

FASTA2,634279,538
Isoform 5 (Dorsal root ganglia and sciatic nerve variant) (DRG and sciatic nerve variant) [UniParc].

Checksum: D0AB5C95ABFF46A4
Show »

FASTA2,642279,713
Isoform 6 [UniParc].

Checksum: 24CA46FC81669858
Show »

FASTA2,833299,725

References

« Hide 'large scale' references
[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: Heart.
[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. expand/collapse author list , 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: Brain.
[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: Kidney.
[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: Placenta.
[11]"Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates."
Lafreniere R.G., MacDonald M.L.E., Dube M.-P., MacFarlane J., O'Driscoll M., Brais B., Meilleur S., Brinkman R.R., Dadivas O., Pape T., Platon C., Radomski C., Risler J., Thompson J., Guerra-Escobio A.-M., Davar G., Breakefield X.O., Pimstone S.N. expand/collapse author list , Green R., Pryse-Phillips W., Goldberg Y.P., Younghusband H.B., Hayden M.R., Sherrington R., Rouleau G.A., Samuels M.E.
Am. J. Hum. Genet. 74:1064-1073(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION (ISOFORMS 4/5), FUNCTION, INVOLVEMENT IN HSAN2A.
[12]"Human hypertension caused by mutations in WNK kinases."
Wilson F.H., Disse-Nicodeme S., Choate K.A., Ishikawa K., Nelson-Williams C., Desitter I., Gunel M., Milford D.V., Lipkin G.W., Achard J.-M., Feely M.P., Dussol B., Berland Y., Unwin R.J., Mayan H., Simon D.B., Farfel Z., Jeunemaitre X., Lifton R.P.
Science 293:1107-1112(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PHA2C.
[13]"Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians."
Roddier K., Thomas T., Marleau G., Gagnon A.M., Dicaire M.J., St Denis A., Gosselin I., Sarrazin A.M., Larbrisseau A., Lambert M., Vanasse M., Gaudet D., Rouleau G.A., Brais B.
Neurology 64:1762-1767(2005) [PubMed] [Europe PMC] [Abstract]
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"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.
[25]"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.
[26]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLY-1199 AND GLU-1799.
[27]"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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001171914.1. NM_001184985.1.
NP_055638.2. NM_014823.2.
NP_061852.3. NM_018979.3.
NP_998820.3. NM_213655.4.
UniGeneHs.744906.

3D structure databases

ProteinModelPortalQ9H4A3.
SMRQ9H4A3. Positions 210-572.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122403. 43 interactions.
DIPDIP-32648N.
IntActQ9H4A3. 52 interactions.
MINTMINT-2879524.

Chemistry

BindingDBQ9H4A3.
ChEMBLCHEMBL1075173.

PTM databases

PhosphoSiteQ9H4A3.

Polymorphism databases

DMDM296453029.

Proteomic databases

PaxDbQ9H4A3.
PRIDEQ9H4A3.

Protocols and materials databases

DNASU65125.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000315939; ENSP00000313059; ENSG00000060237. [Q9H4A3-1]
ENST00000340908; ENSP00000341292; ENSG00000060237. [Q9H4A3-4]
ENST00000537687; ENSP00000444465; ENSG00000060237. [Q9H4A3-6]
ENST00000574564; ENSP00000460651; ENSG00000060237.
GeneID65125.
KEGGhsa:65125.
UCSCuc001qio.4. human. [Q9H4A3-1]
uc001qir.4. human. [Q9H4A3-2]
uc021qss.1. human. [Q9H4A3-6]
uc021qst.1. human. [Q9H4A3-5]

Organism-specific databases

CTD65125.
GeneCardsGC12P000862.
H-InvDBHIX0010312.
HGNCHGNC:14540. WNK1.
HPAHPA059157.
MIM201300. phenotype.
605232. gene.
614492. phenotype.
neXtProtNX_Q9H4A3.
Orphanet970. Hereditary sensory and autonomic neuropathy type 2.
88940. Pseudohypoaldosteronism type 2C.
PharmGKBPA134944932.
PA33782.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0515.
HOVERGENHBG079897.
InParanoidQ9H4A3.
KOK08867.
OrthoDBEOG7KDF8Z.
PhylomeDBQ9H4A3.
TreeFamTF315363.

Enzyme and pathway databases

SignaLinkQ9H4A3.

Gene expression databases

ArrayExpressQ9H4A3.
BgeeQ9H4A3.
CleanExHS_WNK1.
GenevestigatorQ9H4A3.

Family and domain databases

InterProIPR011009. Kinase-like_dom.
IPR024678. Kinase_OSR1/WNK_CCT.
IPR000719. Prot_kinase_dom.
IPR008271. Ser/Thr_kinase_AS.
[Graphical view]
PfamPF12202. OSR1_C. 1 hit.
PF00069. Pkinase. 1 hit.
[Graphical view]
SUPFAMSSF56112. SSF56112. 2 hits.
PROSITEPS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSWNK1. human.
GeneWikiWNK1.
GenomeRNAi65125.
NextBio35528002.
PROQ9H4A3.
SOURCESearch...

Entry information

Entry nameWNK1_HUMAN
AccessionPrimary (citable) accession number: Q9H4A3
Secondary accession number(s): A1L4B0 expand/collapse secondary AC list , C5HTZ5, C5HTZ6, C5HTZ7, H6WZW3, O15052, P54963, Q4VBX9, Q6IFS5, Q86WL5, Q8N673, Q96CZ6, Q9P1S9
Entry history
Integrated into UniProtKB/Swiss-Prot: February 2, 2004
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 141 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human and mouse protein kinases

Human and mouse protein kinases: classification and index

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM