WNK1 - WNK lysine deficient protein kinase 1 Gene

Also Known as KDP; PSK; p65; HSN2; HSAN2; PRKWNK1; PPP1R167

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 65125

About WNK1

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:752,579-911,452 (from NCBI)

This gene has 21 transcripts (splice variants), 286 orthologues, 6 paralogues and is associated with 5 phenotypes. Ubiquitous expression in kidney (RPKM 30.2), fat (RPKM 24.6) and 25 other tissues.

Summary

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]

WNK1 Products (4)

mRNA	Protein	Name
NM_001184985.2	NP_001171914.1	serine/threonine-protein kinase WNK1 isoform 4
NM_014823.3	NP_055638.2	serine/threonine-protein kinase WNK1 isoform 2
NM_018979.4	NP_061852.3	serine/threonine-protein kinase WNK1 isoform 1
NM_213655.5	NP_998820.3	serine/threonine-protein kinase WNK1 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables ATP binding	IDA IDA: Inferred from direct assay	10660600	GOA
enables molecular condensate scaffold activity	IDA IDA: Inferred from direct assay	36318922	GOA
enables phosphatase binding	IDA IDA: Inferred from direct assay	19389623	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15350218	GOA
enables protein kinase activator activity	IMP IMP: Inferred from mutant phenotype	16669787	GOA
enables protein kinase activity	IMP IMP: Inferred from mutant phenotype	16669787	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	16669787	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	10660600	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cell volume homeostasis	IDA IDA: Inferred from direct assay	36318922	GOA
involved in cellular hyperosmotic response	IDA IDA: Inferred from direct assay	15883153	GOA
involved in cellular response to chemokine	IMP IMP: Inferred from mutant phenotype	27400149	GOA
involved in intracellular signal transduction	IDA IDA: Inferred from direct assay	10660600	GOA
acts upstream of or within negative regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	27400149	GOA
involved in negative regulation of autophagy	IMP IMP: Inferred from mutant phenotype	27911840	GOA
involved in negative regulation of cell-cell adhesion mediated by integrin	IMP IMP: Inferred from mutant phenotype	27400149	GOA
involved in negative regulation of heterotypic cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	27400149	GOA
involved in negative regulation of leukocyte cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	27400149	GOA
involved in negative regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	33964204	GOA
involved in non-membrane-bounded organelle assembly	IDA IDA: Inferred from direct assay	36318922	GOA
acts upstream of or within peptidyl-threonine phosphorylation	IMP IMP: Inferred from mutant phenotype	27782176	GOA
involved in positive regulation of T cell chemotaxis	IMP IMP: Inferred from mutant phenotype	27400149	GOA
involved in positive regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	25362046	GOA
involved in positive regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	23797875	GOA
involved in positive regulation of mitotic cytokinesis	IDA IDA: Inferred from direct assay	21220314	GOA
involved in positive regulation of termination of RNA polymerase II transcription	IDA IDA: Inferred from direct assay	29196535	GOA
involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IDA IDA: Inferred from direct assay	33964204	GOA
involved in protein phosphorylation	IDA IDA: Inferred from direct assay	10660600	GOA
involved in protein phosphorylation	IMP IMP: Inferred from mutant phenotype	16669787	GOA
involved in regulation of mRNA export from nucleus	IDA IDA: Inferred from direct assay	29196535	GOA
acts upstream of regulation of monoatomic cation transmembrane transport	IMP IMP: Inferred from mutant phenotype	27782176	GOA
involved in signal transduction	IDA IDA: Inferred from direct assay	16669787	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cytoplasm	IDA IDA: Inferred from direct assay	10660600	GOA
is active in cytosol	IDA IDA: Inferred from direct assay	17190791	GOA
is active in intracellular non-membrane-bounded organelle	IDA IDA: Inferred from direct assay	36318922	GOA
is active in mitotic spindle	IDA IDA: Inferred from direct assay	21220314	GOA
is active in nucleus	IDA IDA: Inferred from direct assay	29196535	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WNK1 Protein Structure

Pkinase

OSR1_C

0
400
800
1200
1600
2000
2382 a.a.

Protein Preferred Names	Protein Names
serine/threonine-protein kinase WNK1	erythrocyte 65 kDa protein

WNK1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	WNK1	Q9H4A3	YWHAE	Homo sapiens	P62258	Y2H Pooling	20936779
Intra	WNK1	Q9H4A3	PPP1CA	Homo sapiens	P62136	Far-WB	19389623
Intra	WNK1	Q9H4A3	YWHAG	Homo sapiens	P61981	Y2H Pooling	20936779
Intra	WNK1	Q9H4A3	OXSR1	Homo sapiens	O95747	Pull Down	17721439
Cross	WNK1	Q9H4A3	Syt2	Rattus norvegicus	P29101	Anti Bait CoIP	15350218

Cross: Cross-species interaction Intra: Intraspecies interaction

WNK1 抗体

製品番号	製品名	アプリケーション	反応性
HY-P82468	WNK1 Antibody (YA2213)	WB, IHC-P	Human, Mouse, Rat

関連疾患

Diseases	Alias
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Hereditary Sensory And Autonomic Neuropathy Type 2 Hsan2 HSAN2A Morvan Disease Hereditary Sensory And Autonomic Neuropathy Type Ii Neurogenic Acroosteolysis Hsan Iia Hsn2a Hsn Iia Neuropathy, Progressive Sensory, Of Children Neuropathy, Congenital Sensory Neuropathy, Hereditary Sensory And Autonomic, Type Ii Hereditary Sensory And Autonomic Neuropathy Type 2a Hereditary Sensory And Autonomic Neuropathy Type Iia Hsanii Congenital Sensory Neuropathy Hsan Type Ii Morvan Syndrome Neuropathy, Hereditary Sensory And Autonomic, Type 2a Morvan'S Disease Neuropathy, Hereditary Sensory, Type Iia Acroosteolysis, Neurogenic Acroosteolysis, Giaccai Type Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive Hereditary Sensory Autonomic Neuropathy Type 2 Giaccai Type Acroosteolysis Hereditary Sensory Neuropathy Type 2 Hereditary Sensory Radicular Neuropathy, Recessive Form Hsan2b Hsan2c Hsan2d Hsn Type Ii Autosomal Recessive Sensory Radicular Neuropathy Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome Morvan Fibrillary Chorea Neuropathy, Hereditary Sensory And Autonomic, 2a Acroosteolysis Giaccai Type Hereditary Sensory Neuropathy Type Iia Hereditary Sensory Radicular Neuropathy Autosomal Recessive Progressive Sensory Neuropathy Of Children Neuropathy Congenital Sensory Charcot-Marie-Tooth Disease Neuropathy, Sensory And Autonomic, Hereditary, Type Iia Hereditary Sensory Autonomic Neuropathy, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii Sensory Neuropathy, Hereditary Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Pseudohypoaldosteronism, Type Iic	Pseudohypoaldosteronism Type 2c PHA2C Pseudohypoaldosteronism 2c
Pseudohypoaldosteronism
Hereditary Sensory Neuropathy	Hereditary Sensory And Autonomic Neuropathy Hereditary Sensory And Autonomic Neuropathies Familial Dysautonomia, Type Ii Hsan Sensory Neuropathy Hereditary Neuropathy, Sensory And Autonomic, Hereditary Neuropathy, Sensory, Hereditary Sensory Neuropathy, Hereditary Charcot-Marie-Tooth Disease Cmt - [Charcot-Marie-Tooth Disease]
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Arthrogryposis, Distal, Type 3	Gordon Syndrome DA3 Distal Arthrogryposis Type 3 Arthrogryposis Multiplex Congenita, Distal, Type Iia Camptodactyly, Cleft Palate, And Clubfoot Camptodactyly-Cleft Palate-Clubfoot Syndrome Distal Arthrogryposis Multiplex Congenita Type Iia Arthrogryposis Distal Type 3 Distal Arthrogryposis Type Iia Arthrogryposis, Distal, 3 Pseudohypoaldosteronism, Type Ii
Autonomic Neuropathy	Diabetic Autonomic Neuropathy
Paronychia	Paronychia Inflammation Onychomycosis Fungal Nail Infection Infected Nailfold Onychia And Paronychia Of Finger Onychia And Paronychia Of Toe Fungal Infection Of The Nails
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Metabolic Acidosis
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	HSAN1A Hsan Ia Hsan1 Hsn Ia Hereditary Sensory And Autonomic Neuropathy Type 1a Neuropathy, Hereditary Sensory And Autonomic, Type 1a Neuropathy, Hereditary Sensory, Type Ia Hsn1a Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a Hereditary Sensory And Autonomic Neuropathy Type Ia Neuropathy, Hereditary Sensory And Autonomic, 1a Hereditary Sensory Neuropathy Type Ia Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a Hsn1 Neuropathy, Sensory And Autonomic, Hereditary, Type 1a Hereditary Sensory Autonomic Neuropathy, Type 1
Neuropathy, Hereditary Sensory And Autonomic, Type V	HSAN5 Hereditary Sensory And Autonomic Neuropathy Type V Hsan V Hereditary Sensory And Autonomic Neuropathy Type 5 Congenital Insensitivity To Pain Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers Hsan Type V Insensitivity To Pain, Congenital Hereditary Sensory And Autonomic Neuropathy, Type 5 Congenital Insensitivity To Pain And Thermal Analgesia Neuropathy, Hereditary Sensory And Autonomic, 5 Hereditary Sensory Neuropathy Type V Hsn V Pain Insensitivity, Congenital Neuropathy, Sensory And Autonomic, Hereditary, Type V Hereditary Sensory Autonomic Neuropathy, Type 5 Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]
Bartter Syndrome, Type 2, Antenatal	Bartter Disease Type 2 BARTS2 Hyperprostaglandin E Syndrome 2 Bartter Syndrome, Type 2 Bartter Syndrome Type 2 Hypokalemic Alkalosis With Hypercalciuria Antenatal 2 Hypokalemic Alkalosis With Hypercalciuria 2, Antenatal Bartter Syndrome Type 2 Antenatal Hypokalemic Alkalosis With Hypercalciuria 2 Antenatal Bartter Syndrome Antenatal Type 2 Bartter Syndrome Type Ii Bartter Syndrome 2, Antenatal Abs2 Antenatal Bartter Syndrome 2 Bartter Syndrome 2 Bs2 Hyperprostanglandin E Syndrome 2 Bartter Syndrome, Antenatal , Type 2 Antley-Bixler Syndrome, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Autosomal Dominant Pseudohypoaldosteronism Type 1 PHA1A Pseudohypoaldosteronism Type I, Autosomal Dominant Pseudohypoaldosteronism Type 1 Autosomal Dominant Renal Pha1 Renal Pseudohypoaldosteronism Type 1 Pha I, Autosomal Dominant Autosomal Dominant Pha 1 Pseudohypoaldosteronism Type 1, Dominant Autosomal Dominant Pha1 Pseudohypoaldosteronism 1, Autosomal Dominant Pha Type I, Autosomal Dominant
Gitelman Syndrome	Familial Hypokalemia-Hypomagnesemia Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria Potassium And Magnesium Depletion GTLMNS Gitelman'S Syndrome Gs Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria Bartter Syndrome Gitelman Variant Bartter Syndrome Hypocalciuric Variant Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Andermann Syndrome Charlevoix Disease ACCPN Polyneuropathy, Sensorimotor, With Or Without Agenesis Of The Corpus Callosum Corpus Callosum, Agenesis Of, With Neuronopathy Corpus Callosum Agenesis-Neuronopathy Syndrome Agenesis Of Corpus Callosum With Neuronopathy Agenesis Of Corpus Callosum With Peripheral Neuropathy Agenesis Of Corpus Callosum With Polyneuropathy Corpus Callosum Agenesis Neuronopathy Hmsn/Acc Hereditary Motor And Sensory Neuropathy With Agenesis Of The Corpus Callosum Agenesis Of The Corpus Callosum, With Peripheral Neuropathy Andermann'S Syndrome Agenesis, Corpus Callosum, With Peripheral Neuropathy
Liddle Syndrome 1	Liddle Syndrome Pseudoaldosteronism Liddle'S Syndrome LIDLS1 Lidls Pseudohyperaldosteronism Pseudoprimary Hyperaldosteronism Pseudohyperaldosteronism Type 1 Liddles Syndrome
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Autosomal Recessive Pseudohypoaldosteronism Type 1 PHA1B Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism, Type I Generalized Pha1 Generalized Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism Type 1 Autosomal Recessive Pha1 Pseudohypoaldosteronism Pha I, Autosomal Recessive Autosomal Recessive Pha 1 Pseudohypoaldosteronism Type 1, Recessive Pseudohypoaldosteronism Type I Autosomal Recessive Pha1 Pha Type 1 Pseudohypoaldosteronism 1, Autosomal Recessive Multisystem Pseudohypoaldosteronism Pha Type I, Autosomal Recessive Pseudohypoaldosteronism Type I, Autosomal Recessive
Hyperaldosteronism, Familial, Type I	Glucocorticoid-Remediable Aldosteronism Gra Familial Hyperaldosteronism Type 1 Hyperaldosteronism, Familial Type 1 HALD1 Fh I Glucocorticoid-Suppressible Hyperaldosteronism Gsh Acth-Dependent Hyperaldosteronism Syndrome Aldosteronism, Glucocorticoid-Remediable Dexamethasone Sensitive Hypertension Glucocorticoid Sensitive Hypertension Familial Hyperaldosteronism Type I Fh1 Aldosteronism, Sensitive To Dexamethasone Dexamethasone-Sensitive Hypertension Fh-I Glucocorticoid-Sensitive Hypertension Hyperaldosteronism, Familial, 1 Aldosteronism Sensitive To Dexamethasone Familial Hyperaldosteronism 1 Fh Type 1 Familial Aldosteronism Type I
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Sesame Syndrome East Syndrome SESAMES Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Epilepsy Ataxia Sensorineural Deafness And Tubulopathy Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome
Bartter Disease	Bartter Syndrome Bartter'S Syndrome Aldosteronism With Hyperplasia Of The Adrenal Cortex Hypokalemic Alkalosis With Hypercalciuria Potassium Wasting Juxtaglomerular Hyperplasia With Secondary Aldosteronism Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria Salt-Losing Tubular Disorder, Henle'S Loop Type Salt-Wasting Tubulopathy, Henle'S Loop Type Bartters Syndrome
Conn'S Syndrome	Cushing Syndrome Hyperaldosteronism Primary Hyperaldosteronism Hypercortisolism Primary Aldosteronism Cushing'S Syndrome Adrenal Gland Hyperfunction Conn Syndrome Hyperadrenalism Ectopic Acth Syndrome Hyperadrenocorticism Cushing Disease Cushing'S Disease Adrenal Cortex Adenoma Corticotroph Pituitary Adenoma Pituitary Corticotroph Micro-Adenoma Pituitary-Dependent Cushing Syndrome Pituitary Acth Hypersecretion Acth Syndrome, Ectopic Acth-Secreting Pituitary Adenoma Adrenal Hyperfunction Resulting From Pituitary Acth Excess Ectopic Adrenocorticotropic Hormone Syndrome Nodular Primary Adrenocortical Dysplasia Pituitary Dependent Cushing Syndrome Pituitary Cushing Syndrome Pituitary-Dependant Cushing Syndrome Pituitary-Dependant Hypercortisolism Pituitary-Dependant Hypercortisolism Disorder Aldosteronism Primary Acth Syndrome Ectopic Adrenal Cushing'S Syndrome Adrenal Cortical Adenoma Cushing Syndrome Nos Cortisol Hypersecretion Corticoadrenal Hypersecretion Cushing Syndrome Secondary To Ectopic Acth-Secretion Ectopic Cushing Syndrome Hypercortisolism Due To Nonpituitary Tumour Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome Idiopathic Aldosteronism Aldosteronism Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia Primary Aldosteronism Due To Adrenal Hyperplasia
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-100626	WNK463	Inhibitor	99.75%	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Felis catus	WNK1	VGNC	VGNC:67077
Bos taurus	WNK1	VGNC	VGNC:36949
Canis familiaris	WNK1	VGNC	VGNC:48418
Rattus norvegicus	WNK1	RGD	RGD:621141
Mus musculus	WNK1	MGD	MGI:2442092
Macaca mulatta	WNK1	VGNC	VGNC:78960
Others	WNK1	NCBI