1. Gene
  2. KCNK1 - potassium two pore domain channel subfamily K member 1 Gene

KCNK1 - potassium two pore domain channel subfamily K member 1 Gene

Homo sapiens

Also known as DPK; HOHO; K2P1; KCNO1; TWIK1; K2p1.1; TWIK-1

Gene ID: 3775 | Gene type: protein coding

About KCNK1

Cytogenetic location: 1q42.2 Genomic coordinates (GRCh38): 1:233,614,106-233,672,514 (from NCBI)

This gene has 6 transcripts (splice variants), 234 orthologues and 14 paralogues. Broad expression in brain (RPKM 19.7), stomach (RPKM 14.9) and 18 other tissues.

Summary

This gene encodes one of the members of the superfamily of Potassium Channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]

KCNK1 Products(1)

mRNA Protein Name
NM_002245.4 NP_002236.1 potassium channel subfamily K member 1

KCNK1 Protein Structure

Ion_trans_2

Ion_trans_2: Ion channel (91 - 157)

Ion_trans_2

Ion_trans_2: Ion channel (192 - 269)

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  • 336 a.a.
Protein Preferred Names Protein Names

potassium channel subfamily K member 1

inward rectifying potassium channel protein TWIK-1

Related Diseases

Diseases Alias
Myasthenic Syndrome, Congenital, 8

Congenital Myasthenic Syndrome 8

CMS8

Myasthenic Syndrome, Congenital, With Pre- And Postsynaptic Defects

Cmsppd

Myasthenic Syndrome, Congenital, 8, With Pre- And Postsynaptic Defects

Congenital Myasthenic Syndrome Due To Agrin Deficiency

Myasthenic Syndrome, Congenital, Due To Agrin Deficiency

Congenital Myasthenic Syndrome 8 With Pre- And Postsynaptic Defects

Myasthenic Syndrome, Congenital, Type 8, With Pre- And Postsynaptic Defects

Hypokalemia

Potassium Deficiency

Potassium Deficiency Disorder

Hypopotassemia

Potassium

Potassium [K] Deficiency

Hypokalaemic Syndrome

Hypopotassaemia

Hypopotassaemia Syndrome

Hypokalaemic

Potassium Depletion

Birk-Barel Syndrome

Birk-Barel Mental Retardation Dysmorphism Syndrome

BIBARS

Mental Retardation With Hypotonia And Facial Dysmorphism

Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome

Kcnk9 Imprinting Syndrome

Myasthenic Syndrome, Congenital, 10

Congenital Myasthenic Syndrome 10

CMS10

Lgm

Myasthenia, Limb-Girdle, Familial

Myasthenia, Limb-Girdle, Familial, Formerly

Lgm, Formerly

Congenital Myasthenic Syndrome Type Ib, Formerly

Cms1b, Formerly

Cms Ib, Formerly

Myasthenic Myopathy, Formerly

Familial Limb-Girdle Myasthenia

Cms1b

Cms Ib

Congenital Myasthenic Syndrome Type 1b

Congenital Myasthenic Syndrome Type Ib

Myasthenic Myopathy

Myasthenic Syndrome, Congenital, Type 10

Congenital Myasthenic Syndrome Ib

Myopathy In Myasthenia Gravis

Progressive Familial Heart Block

Hereditary Bundle Branch Defect

Hereditary Bundle Branch System Defect

Familial Lenegre Disease

Familial Lev Disease

Familial Lev-Lenegre Disease

Familial Pccd

Familial Progressive Heart Block

Pfhb

Bundle Branch Block

Hbbd

Lenegre Lev Disease

Lev Syndrome

Lev'S Disease

Lev-Lenègre Disease

Pccd

Progressive Cardiac Conduction Defect

Bundle-Branch Block

Brain Glioblastoma Multiforme

Brain Glioblastoma

Glioblastoma Multiforme Of Brain

Glioblastoma Nos

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

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
Mus musculus KCNK1 MGD MGI:109322
Bos taurus KCNK1 VGNC VGNC:30465
Rattus norvegicus KCNK1 RGD RGD:621447
Macaca mulatta KCNK1 VGNC VGNC:73993
Canis familiaris KCNK1 VGNC VGNC:51902
Others KCNK1 NCBI