InnateDB Protein
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IDBP-717909.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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WNK1
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Protein Name
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000460651
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InnateDB Gene
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IDBG-11521 (WNK1)
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Protein Structure
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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. {ECO:0000269PubMed:10660600, ECO:0000269PubMed:15060842}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:10660600}.
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Disease Associations |
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:0000269PubMed: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:0000269PubMed:15060842, ECO:0000269PubMed:15911806, ECO:0000269PubMed:18521183}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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. {ECO:0000269PubMed:10660600, ECO:0000269PubMed:11571656, ECO:0000269PubMed:14645531, ECO:0000269PubMed:22701532}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 53 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
53
[view]
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Protein-Protein |
51
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9H4A3
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PhosphoSite |
PhosphoSite-Q9H4A3
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
65125
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UniGene |
Hs.743285
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RefSeq |
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HUGO |
HGNC:14540
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OMIM |
605232
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CCDS |
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HPRD |
05570
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IMGT |
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EMBL |
AB002342
AC004765
AC004803
AF061944
AJ296290
AY231477
BC013629
BC130467
BC130469
BK004108
FJ515833
JQ358908
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GenPept |
AAF31483
AAH13629
AAI30468
AAI30470
AAO46160
ACS13726
ACS13727
ACS13728
AEY99342
BAA20802
CAC15059
DAA04494
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