Aliases for WNK1 Gene
Aliases for WNK1 Gene
- WNK Lysine Deficient Protein Kinase 1 2 3 5
- Protein Phosphatase 1, Regulatory Subunit 167 2 3
- Protein Kinase With No Lysine 1 3 4
- Erythrocyte 65 KDa Protein 3 4
- EC 2.7.11.1 4 61
- PRKWNK1 3 4
- HSN2 3 4
- P65 3 4
- KDP 3 4
- 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
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 Ii and Pseudohypoaldosteronism, Type Iic. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Diuretics Pathway, Pharmacodynamics. 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 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 acitivity, 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WNK1 Gene
Genomics for WNK1 Gene
Regulatory Elements for WNK1 Gene
Enhancers for WNK1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around WNK1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the WNK1 gene promoter:
Regulatory Element Products
Genomic Location for WNK1 Gene
- Chromosome:
- 12
- Start:
- 752,593 bp from pter
- End:
- 911,452 bp from pter
- 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 Ensembl
- 12p13.33 by Entrez Gene
- 12p13.33 by HGNC
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};
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
- 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:
-
- NP_001171914.1
- NP_055638.2
- NP_061852.3
- NP_998820.3
- 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
Antibody Products
- R&D Systems Antibodies for WNK1 (WNK1)
- Cell Signaling Technology (CST) Antibodies for WNK1 (WNK1)
-
Custom Antibody ServicesOriGene Antibodies for WNK1
- Novus Biologicals Antibodies for WNK1
-
Cloud-Clone Corp. Antibodies for WNK1
- Invitrogen Antibodies for WNK1
- antibodies-online Antibodies for WNK1: See all 129
- GeneTex WNK1 antibody for WNK1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for WNK1
- Origene Custom Protein Services for WNK1
-
Cloud-Clone Corp. Proteins for WNK1
- antibodies-online Proteins for WNK1: See all 6
- Search antibodies-online for peptides
- Search GeneTex for Proteins for WNK1
Assay Products
- R&D Systems Proteome Profiler Antibody Arrays, ELISAs, and other biochemical assays for WNK1 (WNK1)
- antibodies-online Kits for WNK1: See all 8
Domains & Families for WNK1 Gene
Gene Families for WNK1 Gene
Protein Domains for WNK1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for WNK1 Gene
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 CatalyticActivity:
- ATP + a protein = ADP + a phosphoprotein.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- By hypertonicity. Activation requires autophosphorylation of Ser-382. Phosphorylation of Ser-378 also promotes increased activity (By similarity).
- 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 acitivity, 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.
Enzyme Numbers (IUBMB) for WNK1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000287 | magnesium ion binding | IEA | -- |
| GO:0004672 | protein kinase activity | IMP | 16669787 |
| GO:0004674 | protein serine/threonine kinase activity | TAS | 24393035 |
| GO:0004860 | protein kinase inhibitor activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 15350218 |
Phenotypes for WNK1 Gene
- MGI mutant phenotypes for WNK1:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for WNK1:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Negative genetic interaction between MUS81-/- and MUS81+/+
- shRNA abundance <= 50%
- Decreased viability in esophageal squamous lineage
- Decreased viability ratio
- Decreased p24 protein expression
- Increased transferrin (TF) endocytosis
- Decreased viability with paclitaxel
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Transferrin accumulation in the perinuclear area
- Decreased viability
- Decreased substrate adherent cell growth
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased HIV-LTR-beta-galactosidase protein expression
- Decreased shRNA abundance
- Increased cell death HMECs cells
- Decreased Salmonella proliferation
- Decreased cell proliferation
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased Tat-dependent transcription
Animal Model Products
-
Taconic Biosciences Mouse Models for WNK1
- Cyagen custom Knockout/knockin (KOKI) mouse models for WNK1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for WNK1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for WNK1 gene
- Search ViGene Biosciences for WNK1
miRNA for WNK1 Gene
- miRTarBase miRNAs that target WNK1
-
- hsa-mir-192-5p (MIRT005582)
- hsa-mir-215-5p (MIRT005583)
- 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)
- 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)
miRNA Products
- Search ViGene Biosciences for WNK1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for WNK1
- Browse OriGene Inhibitory RNA Products For WNK1
-
ViGene Biosciences ready-to-package AAV shRNAs for WNK1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for WNK1
- VectorBuilder custom plasmid, inducible vectors for WNK1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for WNK1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for WNK1
-
ViGene Biosciences adenoviral particle packaged cDNA for WNK1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for WNK1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for WNK1 gene
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 |
| plasma membrane | 2 |
| nucleus | 2 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 10660600 |
| GO:0005829 | cytosol | ISS,IDA | -- |
| GO:0016020 | membrane | ISS | -- |
Pathways & Interactions for WNK1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Ion channel transport | ||
| 2 | Diuretics Pathway, Pharmacodynamics | ||
| 3 | PI3K / Akt Signaling | ||
| 4 | Akt Signaling |
.60
|
|
| 5 | Apoptotic Pathways in Synovial Fibroblasts |
.61
|
|
Pathways by source for WNK1 Gene
1 Cell Signaling Technology pathway for WNK1 Gene
3 Reactome pathways for WNK1 Gene
1 PharmGKB pathway for WNK1 Gene
3 Qiagen pathways for WNK1 Gene
Interacting Proteins for WNK1 Gene
Selected Interacting proteins:
ENSP00000313059
Q9H4A3-WNK1_HUMAN
for WNK1 Gene via
STRING
IID
MINT
UniProtKB
SIGNOR curated interactions for WNK1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002028 | regulation of sodium ion transport | ISS | -- |
| GO:0003084 | positive regulation of systemic arterial blood pressure | IEA | -- |
| GO:0006468 | protein phosphorylation | IMP | 16669787 |
| GO:0006469 | negative regulation of protein kinase activity | IEA | -- |
| GO:0006811 | ion transport | ISS | -- |
Drugs & Compounds for WNK1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| sodium |
|
7440-23-5 | ||||
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
||
| Chloride ion |
|
16887-00-6 |
|
Transcripts for WNK1 Gene
mRNA/cDNA for WNK1 Gene
- (24) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (695) Selected AceView cDNA sequences:
- (21) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for WNK1 Gene
- WNK lysine deficient protein kinase 1:
- Representative Sequences:
miRNA Products
- Search ViGene Biosciences for WNK1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for WNK1
- Browse OriGene Inhibitory RNA Products For WNK1
-
ViGene Biosciences ready-to-package AAV shRNAs for WNK1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for WNK1
- VectorBuilder custom plasmid, inducible vectors for WNK1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for WNK1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| 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: |
Expression for WNK1 Gene
This gene is overexpressed in Adrenal (38.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WNK1 Gene
NURSA nuclear receptor signaling pathways regulating expression of WNK1 Gene:
WNK1SOURCE 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(4.3)
- Kidney(3.8)
- Intestine(3.1)
- Lung(2.9)
- Blood(2.5)
- Skin(2.4)
- Eye(2.2)
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
Organs:
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
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 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | WNK1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Wnk1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Wnk1 34 16 35 |
|
||
| cow (Bos Taurus) |
Mammalia | WNK1 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | WNK1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | WNK1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | WNK1 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | WNK1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.8259 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | wnk1a 35 |
|
OneToMany | |
| wnk1b 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Wnk 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | wnk-1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for WNK1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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)
Paralogs for WNK1 Gene
(17) SIMAP similar genes for WNK1 Gene using alignment to 19 proteins:
Variants for WNK1 Gene
| SNP ID | Clin | Chr 12 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_035640 | A colorectal cancer sample | ||||
| VAR_035641 | Breast cancer samples | ||||
| VAR_041311 | A breast pleomorphic lobular carcinoma sample | ||||
| VAR_041320 | A breast pleomorphic lobular carcinoma sample | ||||
| VAR_041321 | A lung adenocarcinoma sample |
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)
Relevant External Links for WNK1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WNK1 Gene
Disorders for WNK1 Gene
(13) MalaCards diseases for WNK1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuropathy, hereditary sensory and autonomic, type ii |
|
|
| pseudohypoaldosteronism, type iic |
|
|
| hereditary sensory neuropathy |
|
|
| pseudohypoaldosteronism |
|
|
| familial hypertension |
|
Search WNK1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
WNK1_HUMAN- 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.
- 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.
Relevant External Links for WNK1
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 P.B. (PLoS ONE 2009) 3 22 46 64
- 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. (J. Hum. Genet. 2009) 3 22 46 64
- Common variation in the WNK1 gene and blood pressure in childhood: the Avon Longitudinal Study of Parents and Children. (PMID: 18809789) Tobin M.D. … Burton P.R. (Hypertension 2008) 3 22 46 64
- Physiological interaction between alpha-adducin and WNK1-NEDD4L pathways on sodium-related blood pressure regulation. (PMID: 18591455) Manunta P. … Samani N.J. (Hypertension 2008) 3 22 46 64
- WNK1 kinase polymorphism and blood pressure response to a thiazide diuretic. (PMID: 16172412) Turner S.T. … Boerwinkle E. (Hypertension 2005) 3 22 46 64
Products for WNK1 Gene
- R&D Systems Antibodies for WNK1 (WNK1)
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- Custom Antibody ServicesOriGene Antibodies for WNK1
- Browse OriGene ELISA Kits
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- OriGene ORF clones in human for WNK1
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- Taconic Biosciences Mouse Models for WNK1
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- Humanized Mice
- Invitrogen Antibodies for WNK1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for WNK1
- antibodies-online Antibodies for WNK1: See all 129
- antibodies-online Kits for WNK1: See all 8
- antibodies-online Proteins for WNK1: See all 6
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- GeneTex WNK1 antibody for WNK1
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- ViGene Biosciences adenoviral particle packaged cDNA for WNK1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for WNK1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for WNK1 gene
- Search ViGene Biosciences for WNK1
- Horizon Cell Lines for WNK1
- Cyagen custom Knockout/knockin (KOKI) mouse models for WNK1
- VectorBuilder custom plasmid, inducible vectors for WNK1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for WNK1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for WNK1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
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- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
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- (141) ENCODE
- (142) ProSci
- (143) Horizon
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- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer