WNK1_HUMAN
Source:
hRBCD
; ID:
IPI00004472
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
WNK1
, HSN2, KDP, KIAA0344, PRKWNK1
Protein names and data:
WNK1_HUMAN
, Serine/threonine-protein kinase WNK1; 2.7.11.1
, Erythrocyte 65 kDa protein; p65; Kinase deficient protein; Protein kinase lysine-deficient 1; Protein kinase with no lysine 1; hWNK1
Lenght: 2382 a.a.
Mass: 250794 Da
fasta formatted sequence
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.
Catalytic activity:
ATP + a protein = ADP + a phosphoprotein.
Disease:
( OMIM:
201300
605232
614492
)
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. Hereditary sensory and autonomic neuropathy 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.
Cellular location:
Cytoplasm.
Tissue specificity:
Widely expressed, with highest levels observed in the testis, heart, kidney and skeletal muscle. Isoform 3 is kidney-specific.
Genetic variants
141 - 141
A -> T (in dbSNP:rs11554421). VAR_041309
11554421
149 - 149
A -> V (in dbSNP:rs34880640). VAR_041310
34880640
419 - 419
E -> Q (in a breast pleomorphic lobular carcinoma sample; somatic mutation). VAR_041311
509 - 509
I -> T (in dbSNP:rs34728563). VAR_041312
34728563
527 - 527
D -> G (in dbSNP:rs34408667). VAR_041313
34408667
665 - 665
T -> I (in dbSNP:rs2286007). VAR_019992
2286007
674 - 674
T -> A (in dbSNP:rs11833299). VAR_041314
11833299
823 - 823
H -> R (in dbSNP:rs56015776). VAR_041315
56015776
1056 - 1056
T -> P (in dbSNP:rs956868). VAR_059033
956868
1199 - 1199
E -> G (in a colorectal cancer sample; somatic mutation). VAR_035640
1506 - 1506
C -> S (in dbSNP:rs7955371). VAR_059034
7955371
1546 - 1546
A -> V (in dbSNP:rs56351358). VAR_041316
56351358
1799 - 1799
Q -> E (in breast cancer samples; infiltrating ductal carcinoma; somatic mutation). VAR_035641
1808 - 1808
M -> I (in dbSNP:rs12828016). VAR_041317
12828016
1823 - 1823
P -> L (in dbSNP:rs17755373). VAR_041318
17755373
1957 - 1957
R -> H (in dbSNP:rs36083875). VAR_041319
36083875
2190 - 2190
S -> C (in a breast pleomorphic lobular carcinoma sample; somatic mutation). VAR_041320
2362 - 2362
F -> L (in a lung adenocarcinoma sample; somatic mutation). VAR_041321
2380 - 2380
R -> W (in dbSNP:rs56262445). VAR_041322
56262445
Database cross-references
UniProt:
Q9H4A3
Ensembl:
ENST00000315939
Ensembl:
ENST00000340908
Ensembl:
ENST00000537687
Ensembl:
ENST00000574564
MIM:
201300
MIM:
605232
MIM:
614492
neXtProt:
NX_Q9H4A3
Antibodypedia:
Q9H4A3
(may not find the protein thus also not any antibody)
Local full text data:
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