1. Gene
  2. WNK1 - WNK lysine deficient protein kinase 1 Gene

WNK1 - WNK lysine deficient protein kinase 1 Gene

Homo sapiens

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

Gene ID: 65125 | Gene type: protein coding

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

WNK1 Protein Structure

Pkinase

Pkinase: Protein kinase domain (226 - 479)

OSR1_C

OSR1_C: Oxidative-stress-responsive kinase 1 C-terminal domain (500 - 537)

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  • 2382 a.a.
Protein Preferred Names Protein Names

serine/threonine-protein kinase WNK1

erythrocyte 65 kDa protein

Related Diseases

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

Orthologs Information

Species Symbol Source 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