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This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding d... See more...
Aliases for WNK1 Gene
Aliases for WNK1 Gene
- WNK Lysine Deficient Protein Kinase 1 Isoform 3
- Prostate-Derived Sterile 20-Like Kinase 3
- Hereditary Sensory Neuropathy, Type II 2
- Serine/Threonine-Protein Kinase WNK1 1 3
- Serine/Threonine-Protein Kinase WNK1 2 3
- Protein Kinase, Lysine Deficient 1 2
- Protein Kinase Lysine-Deficient 1 4
- Kinase Deficient Protein 4
- EC 2.7.11 51
- KIAA0344 4
- HWNK1 4
- WNK1 5
- PSK 3
External Ids for WNK1 Gene
- HGNC: 14540
- Entrez Gene: 65125
- Ensembl: ENSG00000060237
- OMIM: 605232
- UniProtKB: Q9H4A3
Previous HGNC Symbols for WNK1 Gene
- PRKWNK1
- HSN2
Previous GeneCards Identifiers for WNK1 Gene
- GC12P000862
Summaries for WNK1 Gene
-
This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]
GeneCards Summary for WNK1 Gene
WNK1 (WNK Lysine Deficient Protein Kinase 1) is a Protein Coding gene. Diseases associated with WNK1 include Neuropathy, Hereditary Sensory And Autonomic, Type Iia and Pseudohypoaldosteronism, Type Iic. Among its related pathways are AKT Siganaling Pathway and Apoptotic Pathways in Synovial Fibroblasts. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is WNK2.
UniProtKB/Swiss-Prot Summary for WNK1 Gene
-
Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D and SGK1. Controls sodium and chloride ion transport by inhibiting the activity of WNK4, by either phosphorylating the kinase or via an interaction between WNK4 and the autoinhibitory domain of WNK1. WNK4 regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation. WNK1 may also play a role in actin cytoskeletal reorganization. Phosphorylates NEDD4L. Acts as a scaffold to inhibit SLC4A4, SLC26A6 as well as CFTR activities and surface expression, recruits STK39 which mediates the inhibition (By similarity).
-
[Isoform 3]: Dominant-negative regulator of the longer isoform 1. Does not have kinase activity, does not directly inhibit WNK4 and has no direct effect on sodium and chloride ion transport. Downregulates sodium-chloride cotransporter activity indirectly by inhibiting isoform 1, it associates with isoform 1 and attenuates its kinase activity. In kidney, may play an important role regulating sodium and potassium balance.
Additional gene information for WNK1 Gene
- HGNC(14540)
- Entrez Gene(65125)
- Ensembl(ENSG00000060237)
- OMIM(605232)
- UniProtKB(Q9H4A3)
- Open Targets Platform(ENSG00000060237)
- Monarch Initiative
- Search for WNK1 at DataMed
- Search for WNK1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WNK1 Gene
Genomics for WNK1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for WNK1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around WNK1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WNK1
- Top Transcription factor binding sites by QIAGEN in the WNK1 gene promoter:
-
- AP-1
- AP-2alpha
- AP-2alpha isoform 2
- AP-2alpha isoform 3
- AP-2alpha isoform 4
- AP-2alphaA
- ATF-2
- c-Jun
- LCR-F1
- Pax-5
Genomic Locations for WNK1 Gene
Genomic Locations for WNK1 Gene
- chr12:752,579-911,452
- (GRCh38/hg38)
- Size:
- 158,874 bases
- Orientation:
- Plus strand
- chr12:861,759-1,020,618
- (GRCh37/hg19)
- Size:
- 158,860 bases
- Orientation:
- Plus strand
Genomic View for WNK1 Gene
Genes around WNK1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p13.33 by HGNC
- 12p13.33 by Entrez Gene
- 12p13.33 by Ensembl
WNK1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for WNK1 Gene
Proteins for WNK1 Gene
-
Protein details for WNK1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H4A3-WNK1_HUMAN
- Recommended name:
- Serine/threonine-protein kinase WNK1
- Protein Accession:
- Q9H4A3
- A1L4B0
- C5HTZ5
- C5HTZ6
- C5HTZ7
- H6WZW3
- O15052
- P54963
- Q4VBX9
- Q6IFS5
- Q86WL5
- Q8N673
- Q96CZ6
- Q9P1S9
Protein attributes for WNK1 Gene
- Size:
- 2382 amino acids
- Molecular mass:
- 250794 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
-
- Interacts with SYT2 (By similarity). Interacts with WNK3 and WNK4 (By similarity). Interacts with KLHL3 (PubMed:23387299, PubMed:23576762). Isoform 3: Interacts with isoform 1 (By similarity).
- SequenceCaution:
-
- Sequence=AAF31483.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305}; Sequence=AAI30468.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAI30470.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=DAA04494.1; Type=Erroneous gene model prediction; Note=Includes 3' and 3' intronic sequences.; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 1]: Strong expression in dorsal root ganglia and spinal cord.
- [Isoform 3]: Kinase-defective isoform. Produced by alternative promoter usage and alternative splicing.
- [Isoform 4]: Contains the nervous system-specific exon HSN2. Produced by alternative splicing.
- [Isoform 5]: Contains the nervous system-specific exon HSN2. Produced by alternative splicing.
- [Isoform 6]: Contains the nervous system-specific exon HSN2. Produced by alternative splicing.
Three dimensional structures from OCA and Proteopedia for WNK1 Gene
Protein Expression for WNK1 Gene
Selected DME Specific Peptides for WNK1 Gene
- Q9H4A3:
-
- FTDDLHKLVD
- PPIIHRD
- EIGRGSF
- PLLPQVP
- QRFKEEAEMLKGLQHPNIVRFYDSWES
- EYPYSEC
- KMVTFKFD
- KIGDLGLA
- VIGTPEFMAPE
- PEVKEIIEGCIR
- FGMCMLEM
- TELMTSGTL
- KDNEAIEFSF
- GTPEFMAPE
- DLLNHAFF
- IHRDLKCDNIF
- YDESVDV
- VEVAWCELQDRKLTK
- MSSDNES
Post-translational modifications for WNK1 Gene
- Autophosphorylation at Ser-382 is inhibited by intracellular calcium.
- May be O-glycosylated.
- Ubiquitinated in vitro by the BCR(KLHL3) complex and in vivo by a BCR(KLHL2) complex, leading to proteasomal degradation.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for WNK1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_006719066.1
- XP_011519299.1
- XP_011519300.1
- XP_011519301.1
- XP_011519302.1
- XP_011519303.1
- XP_011519304.1
- XP_011519305.1
- XP_011519306.1
- XP_011519307.1
- XP_011519308.1
- XP_011519309.1
- XP_011519310.1
- XP_011519311.1
- XP_016875323.1
- XP_016875324.1
- XP_016875325.1
- XP_016875326.1
- XP_016875327.1
- XP_016875328.1
- NP_001171914.1
- NP_055638.2
- NP_061852.3
- NP_998820.3
Antibody Products
- LifeSpan BioSciences WNK1 Antibody (LS-A7484) and WNK1 Antibody (LS-A7494)
- GeneTex Anti-WNK1 antibody
- NSJ Bioreagents WNK1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for WNK1
- Novus Biologicals Antibodies for WNK1
-
Abcam antibodies for WNK1
- Invitrogen Antibodies for WNK1 (AFLGC-WNK1)
Protein Products
-
OriGene Purified Proteins for WNK1
- Search Origene for MassSpec and Protein Over-expression Lysates for WNK1
- Origene Custom Protein Services for WNK1
- Novus Biologicals proteins for WNK1
- antibodies-online: Show 6 available WNK1 Proteins ranked by validation data
- Compare Top WNK1 Proteins
-
Quality Products:
-
Abcam proteins for WNK1
Assay Products
- antibodies-online: Show 7 available WNK1 Elisa Kits ranked by validation data
- Compare Top WNK1 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for WNK1
Domains & Families for WNK1 Gene
Gene Families for WNK1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for WNK1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for WNK1 Gene
- GenScript: Design optimal peptide antigens:
-
- WNK1 protein (A5D8Z4_HUMAN)
- WNK lysine deficient protein kinase 1 (A5XEH6_HUMAN)
- WNK lysine deficient protein kinase 1 (A5XEH7_HUMAN)
- WNK lysine deficient protein kinase 1 (A5XEH8_HUMAN)
- WNK lysine deficient protein kinase 1 (A5XEH9_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9H4A3UniProtKB/Swiss-Prot:
WNK1_HUMAN :- Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily.
- Family:
-
- Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily.
Function for WNK1 Gene
Molecular function for WNK1 Gene
- UniProtKB/Swiss-Prot 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. Acts as a scaffold to inhibit SLC4A4, SLC26A6 as well as CFTR activities and surface expression, recruits STK39 which mediates the inhibition (By similarity).
- UniProtKB/Swiss-Prot Function:
- [Isoform 3]: Dominant-negative regulator of the longer isoform 1. Does not have kinase activity, does not directly inhibit WNK4 and has no direct effect on sodium and chloride ion transport. Downregulates sodium-chloride cotransporter activity indirectly by inhibiting isoform 1, it associates with isoform 1 and attenuates its kinase activity. In kidney, may play an important role regulating sodium and potassium balance.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:10660600};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:10660600};.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- By hypertonicity. Activation requires autophosphorylation of Ser-382, that may be regulated by calcium. Phosphorylation of Ser-378 also promotes increased activity.
Enzyme Numbers (IUBMB) for WNK1 Gene
Phenotypes From GWAS Catalog for WNK1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0000287 | magnesium ion binding | IMP | -- |
| GO:0004672 | protein kinase activity | IEA,IMP | 16669787 |
| GO:0004674 | protein serine/threonine kinase activity | IEA,TAS | 24393035 |
| GO:0004860 | protein kinase inhibitor activity | IEA | -- |
Phenotypes for WNK1 Gene
- MGI mutant phenotypes for WNK1:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for WNK1:
-
- Decreased hepcidin::fluc mRNA expression
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Increased cell death HMECs cells
- shRNA abundance <= 50%
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability ratio
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased shRNA abundance
- Decreased Salmonella proliferation
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased HIV-LTR-beta-galactosidase protein expression
- Decreased substrate adherent cell growth
- Increased shRNA abundance (Z-score > 2)
- Decreased viability with paclitaxel
- Decreased p24 protein expression
- Increased epidermal growth factor (EGF) endocytosis, decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased Tat-dependent transcription
- Decreased viability in colon lineage; decreased viability in pancreas lineage
- Decreased cell proliferation
- Transferrin accumulation in small spots in the cell periphery
Animal Model Products
-
Taconic Biosciences Mouse Models for WNK1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for WNK1 - Select products 50% OFF >
- * WNK1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for WNK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for WNK1
-
Santa Cruz Biotechnology (SCBT) CRISPR for WNK1
miRNA for WNK1 Gene
- miRTarBase miRNAs that target WNK1
-
- hsa-miR-192-5p (MIRT005582)
- hsa-miR-215-5p (MIRT005583)
- mmu-miR-301b-3p (MIRT007987)
- mmu-miR-541-5p (MIRT008332)
- mmu-miR-362-5p (MIRT009027)
- mmu-miR-17-5p (MIRT010075)
- mmu-miR-324-3p (MIRT010941)
- mmu-miR-26a-5p (MIRT011378)
- mmu-let-7b-5p (MIRT012130)
- mmu-miR-19b-3p (MIRT012601)
- mmu-miR-34b-5p (MIRT012846)
- mmu-miR-297a-5p (MIRT013107)
- mmu-miR-149-5p (MIRT014699)
- mmu-miR-136-5p (MIRT014997)
- mmu-miR-9-5p (MIRT015485)
- hsa-miR-21-5p (MIRT030974)
- hsa-miR-877-3p (MIRT037011)
- hsa-miR-550a-5p (MIRT037785)
- hsa-miR-106b-3p (MIRT038570)
- hsa-miR-93-3p (MIRT038785)
- hsa-miR-615-3p (MIRT040135)
- hsa-miR-18a-3p (MIRT040788)
- hsa-miR-193b-3p (MIRT041474)
- hsa-miR-423-3p (MIRT042524)
- hsa-miR-331-3p (MIRT043274)
- hsa-miR-378a-3p (MIRT043954)
- hsa-miR-320a (MIRT044712)
- hsa-miR-186-5p (MIRT045005)
- hsa-miR-149-5p (MIRT045660)
- hsa-miR-125b-5p (MIRT046056)
- hsa-miR-183-5p (MIRT047108)
- hsa-miR-197-3p (MIRT048089)
- hsa-let-7b-5p (MIRT052359)
- hsa-let-7a-3p (MIRT062174)
- hsa-let-7b-3p (MIRT062175)
- hsa-let-7f-1-3p (MIRT062176)
- hsa-miR-26a-5p (MIRT062177)
- hsa-miR-26b-5p (MIRT062178)
- hsa-miR-32-3p (MIRT062179)
- hsa-miR-98-3p (MIRT062180)
- hsa-miR-381-3p (MIRT062181)
- hsa-miR-590-3p (MIRT062184)
- hsa-miR-300 (MIRT062185)
- hsa-miR-1297 (MIRT062186)
- hsa-miR-4465 (MIRT062187)
- hsa-miR-4666a-3p (MIRT062188)
- hsa-miR-7849-3p (MIRT062192)
- hsa-miR-27a-3p (MIRT132931)
- hsa-miR-27b-3p (MIRT132933)
- hsa-miR-155-5p (MIRT132936)
- hsa-miR-548a-3p (MIRT132942)
- hsa-miR-606 (MIRT132943)
- hsa-miR-548e-3p (MIRT132951)
- hsa-miR-548f-3p (MIRT132952)
- hsa-miR-302f (MIRT132955)
- hsa-miR-4639-5p (MIRT132966)
- hsa-miR-4775 (MIRT132970)
- hsa-miR-548ar-3p (MIRT132971)
- hsa-miR-548az-3p (MIRT132972)
- hsa-miR-19a-3p (MIRT132981)
- hsa-miR-19b-3p (MIRT132982)
- hsa-miR-199a-5p (MIRT438173)
- hsa-miR-5007-3p (MIRT533155)
- hsa-miR-6755-3p (MIRT533156)
- hsa-miR-302a-5p (MIRT533157)
- hsa-miR-1279 (MIRT533158)
- hsa-miR-892c-3p (MIRT533159)
- hsa-miR-4676-3p (MIRT533160)
- hsa-miR-452-5p (MIRT533161)
- hsa-miR-5582-3p (MIRT533162)
- hsa-miR-1185-2-3p (MIRT564990)
- hsa-miR-1185-1-3p (MIRT564991)
- hsa-miR-4789-5p (MIRT564992)
- hsa-let-7f-2-3p (MIRT564993)
- hsa-miR-101-3p (MIRT564994)
- hsa-miR-4272 (MIRT564995)
- hsa-miR-5697 (MIRT564996)
- hsa-miR-144-3p (MIRT564997)
- mmu-miR-875-3p (MIRT604546)
- hsa-miR-384 (MIRT621597)
- hsa-miR-3685 (MIRT636141)
- hsa-miR-4652-3p (MIRT651531)
- hsa-miR-4743-3p (MIRT651532)
- hsa-miR-6720-5p (MIRT651533)
- hsa-miR-6512-3p (MIRT651534)
- hsa-miR-2682-3p (MIRT651535)
- hsa-miR-6781-3p (MIRT651536)
- hsa-miR-6823-3p (MIRT651537)
- hsa-miR-2114-3p (MIRT651538)
- hsa-miR-134-3p (MIRT651539)
- hsa-miR-7114-5p (MIRT651540)
- hsa-miR-130b-5p (MIRT651541)
- hsa-miR-6849-3p (MIRT651542)
- hsa-miR-6877-3p (MIRT651543)
- hsa-miR-6819-3p (MIRT651544)
- hsa-miR-4700-3p (MIRT651545)
- hsa-miR-6772-3p (MIRT697646)
- hsa-miR-6780a-3p (MIRT697647)
- hsa-miR-6509-3p (MIRT697648)
- hsa-miR-4795-3p (MIRT697649)
- hsa-miR-4477a (MIRT697650)
- hsa-miR-4448 (MIRT697651)
- hsa-miR-4268 (MIRT697652)
- hsa-miR-6797-3p (MIRT697653)
- hsa-miR-6076 (MIRT697654)
- hsa-miR-3188 (MIRT697655)
- hsa-miR-6884-5p (MIRT697656)
- hsa-miR-485-5p (MIRT697657)
- hsa-miR-2467-5p (MIRT697658)
- hsa-miR-3975 (MIRT697659)
- hsa-miR-4774-5p (MIRT697660)
- hsa-miR-4490 (MIRT697661)
- hsa-miR-6824-3p (MIRT697662)
- hsa-miR-6764-3p (MIRT697663)
- hsa-miR-1273g-3p (MIRT697664)
- hsa-miR-181a-2-3p (MIRT697665)
- hsa-miR-8063 (MIRT697666)
- hsa-miR-126-5p (MIRT697667)
- hsa-miR-944 (MIRT697668)
- hsa-miR-7-2-3p (MIRT697669)
- hsa-miR-7-1-3p (MIRT697670)
- gga-miR-23b-5p (MIRT733251)
- hsa-miR-506-3p (MIRT733636)
- hsa-miR-141-5p (MIRT734556)
- hsa-miR-24-1-5p (MIRT734557)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for WNK1
- Browse OriGene Inhibitory RNA Products For WNK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WNK1
Clone Products
- Applied Biological Materials (abm): Clones for WNK1 - Select products 50% OFF >
- * WNK1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for WNK1
- Addgene plasmids for WNK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for WNK1
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for WNK1 Gene
Localization for WNK1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for WNK1 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA | 10660600 |
| GO:0005829 | cytosol | IDA,ISS | -- |
| GO:0016020 | membrane | IDA,ISS | -- |
Pathways & Interactions for WNK1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Ion channel transport | ||
| 2 | PI3K / Akt Signaling | ||
| 3 | Diuretics Pathway, Pharmacodynamics | ||
| 4 | AKT Siganaling Pathway | ||
| 5 | Akt Signaling |
Akt Signaling
.60
|
|
Pathways by source for WNK1 Gene
1 Sino Biological pathway for WNK1 Gene
3 Reactome pathways for WNK1 Gene
1 PharmGKB pathway for WNK1 Gene
3 Qiagen pathways for WNK1 Gene
- Akt Signaling
- ERK5 Signaling
- MAPK Signaling
1 Cell Signaling Technology pathway for WNK1 Gene
Interacting Proteins for WNK1 Gene
Selected Interacting proteins:
Q9H4A3-WNK1_HUMAN
ENSP00000341292
for WNK1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for WNK1
SIGNOR curated interactions for WNK1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002028 | regulation of sodium ion transport | IDA,ISS | -- |
| GO:0003084 | positive regulation of systemic arterial blood pressure | IMP | -- |
| GO:0006468 | protein phosphorylation | IEA,IMP | 16669787 |
| GO:0006469 | negative regulation of protein kinase activity | IEA | -- |
| GO:0006811 | ion transport | IDA,ISS | -- |
Drugs & Compounds for WNK1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Hydrochlorothiazide | Approved, Vet_approved | Pharma | Inhibitor, Inhibition | 453 | ||
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
| Chloride ion | Experimental | Pharma | 0 | |||
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| sodium |
|
7440-23-5 | ||||
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
Transcripts for WNK1 Gene
mRNA/cDNA for WNK1 Gene
- 4 REFSEQ mRNAs :
- 25 NCBI additional mRNA sequence :
- 21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000315939 10796 nts (view in UCSC)
- ENST00000340908 11208 nts (view in UCSC)
- ENST00000447667 1902 nts (view in UCSC)
- ENST00000530271 11804 nts (view in UCSC)
- ENST00000534872 584 nts (view in UCSC)
CRISPR Products
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-
Santa Cruz Biotechnology (SCBT) CRISPR for WNK1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for WNK1
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Clone Products
- Applied Biological Materials (abm): Clones for WNK1 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for WNK1
- Addgene plasmids for WNK1
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| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25a | · | 25b | ^ | 26 | ^ | 27a | · | 27b | ^ | 28a | · | 28b | ^ | 29a | · | 29b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||
| SP8: |
Relevant External Links for WNK1 Gene
- GeneLoc Exon Structure for
- WNK1
Expression for WNK1 Gene
This gene is overexpressed in Adrenal (38.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WNK1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WNK1
SOURCE GeneReport for Unigene cluster for WNK1 Gene:
Hs.744906mRNA Expression by UniProt/SwissProt for WNK1 Gene:
Q9H4A3-WNK1_HUMAN
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.
Evidence on tissue expression from TISSUES for WNK1 Gene
- Nervous system(5)
- Liver(4.5)
- Kidney(3.9)
- Intestine(3.5)
- Lung(3.5)
- Skin(3.4)
- Blood(2.9)
- Heart(2.9)
- Eye(2.8)
- Muscle(2.8)
- Spleen(2.4)
- Adrenal gland(2.3)
- Lymph node(2.2)
- Thyroid gland(2.2)
- Stomach(2.2)
- Bone marrow(2.1)
- Pancreas(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for WNK1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- nose
- olfactory bulb
- skull
- tongue
Thorax:
- chest wall
- clavicle
- esophagus
- heart
- heart valve
- rib
- rib cage
- scapula
- sternum
Abdomen:
- intestine
- kidney
- large intestine
- small intestine
- stomach
Pelvis:
- pelvis
- prostate
- urinary bladder
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood vessel
- bone marrow
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- sweat gland
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for WNK1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for WNK1 Gene
Orthologs for WNK1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | WNK1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | WNK1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Wnk1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Wnk1 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | WNK1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | WNK1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | WNK1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | WNK1 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | WNK1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.8259 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | wnk1a 31 |
|
OneToMany | |
| wnk1b 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Wnk 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | wnk-1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for WNK1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for WNK1 Gene
- ENSEMBL:
- Gene Tree for WNK1 (if available)
- TreeFam:
- Gene Tree for WNK1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for WNK1: view image
Paralogs for WNK1 Gene
(17) SIMAP similar genes for WNK1 Gene using alignment to 19 proteins:
- WNK1_HUMAN
- A5D8Z4_HUMAN
- A5XEH6_HUMAN
- A5XEH7_HUMAN
- A5XEH8_HUMAN
- A5XEH9_HUMAN
- D3DUP1_HUMAN
- D3DUP2_HUMAN
- F5GWT4_HUMAN
- F5H2M7_HUMAN
- F6UYG0_HUMAN
- H0YF81_HUMAN
- H0YFF1_HUMAN
- H0YFK5_HUMAN
- H0YFP5_HUMAN
- H0YH68_HUMAN
- H0YH79_HUMAN
- I3L251_HUMAN
- L8EA38_HUMAN
Variants for WNK1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WNK1 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 617550 | Pathogenic: Hereditary sensory and autonomic neuropathy type IIA | 868,391(+) | C/T | NONSENSE,INTRON_VARIANT | |
| 637896 | Uncertain Significance: Charcot-Marie-Tooth disease | 827,172(+) | ATC/A | FRAMESHIFT_VARIANT | |
| 637897 | Uncertain Significance: Charcot-Marie-Tooth disease | 827,242(+) | C/CT | FRAMESHIFT_VARIANT | |
| 637898 | Uncertain Significance: Charcot-Marie-Tooth disease | 813,800(+) | T/TA | FRAMESHIFT_VARIANT | |
| 637916 | Uncertain Significance: Charcot-Marie-Tooth disease | 827,198(+) | A/AT | FRAMESHIFT_VARIANT |
Residual Variation Intolerance Score:
24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
14.68;
96.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for WNK1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WNK1 Gene
Disorders for WNK1 Gene
(24) MalaCards diseases for WNK1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuropathy, hereditary sensory and autonomic, type iia |
|
|
| pseudohypoaldosteronism, type iic |
|
|
| pseudohypoaldosteronism |
|
|
| neuropathy |
|
|
| hereditary sensory neuropathy |
|
|
Search WNK1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
WNK1_HUMAN- 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. {ECO:0000269 PubMed:11498583}. 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. {ECO:0000269 PubMed:15060842, ECO:0000269 PubMed:15911806, ECO:0000269 PubMed:18521183}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for WNK1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for WNK1 Gene
Publications for WNK1 Gene
- Polymorphisms in the WNK1 gene are associated with blood pressure variation and urinary potassium excretion. (PMID: 19347040) Newhouse S … Munroe PB (PloS one 2009) 3 23 41
- Variations in the WNK1 gene modulates the effect of dietary intake of sodium and potassium on blood pressure determination. (PMID: 19609280) Osada Y … Yamakawa-Kobayashi K (Journal of human genetics 2009) 3 23 41
- Physiological interaction between alpha-adducin and WNK1-NEDD4L pathways on sodium-related blood pressure regulation. (PMID: 18591455) Manunta P … Samani NJ (Hypertension (Dallas, Tex. : 1979) 2008) 3 23 41
- Common variation in the WNK1 gene and blood pressure in childhood: the Avon Longitudinal Study of Parents and Children. (PMID: 18809789) Tobin MD … Burton PR (Hypertension (Dallas, Tex. : 1979) 2008) 3 23 41
- WNK1 kinase polymorphism and blood pressure response to a thiazide diuretic. (PMID: 16172412) Turner ST … Boerwinkle E (Hypertension (Dallas, Tex. : 1979) 2005) 3 23 41
ExternalLinks
Products for WNK1 Gene
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- Novus Biologicals proteins for WNK1
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- Taconic Biosciences Mouse Models for WNK1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for WNK1 (AFLGC-WNK1)
- VectorBuilder Custom and pre-made DNA vectors for WNK1 (ie. gene expression, shRNA knockdown, CRISPR)
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- antibodies-online: Show 37 available WNK1 Antibodies ranked by validation data
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for WNK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WNK1
Sources for WNK1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73)