KCNK1
Potassium Two Pore Domain Channel Subfamily K Member 1
Gene Information Card
| Symbol | KCNK1 |
|---|---|
| Full Name | Potassium Two Pore Domain Channel Subfamily K Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.2 |
| NCBI Gene ID | 3775 ncbi.nlm.nih.gov/gene/3775 |
| Ensembl ID | ENSG00000135744 |
| UniProt ID | O00180 |
| OMIM ID | 603219 |
| HGNC ID | 6272 |
| Aliases | TWIK-1, K2P1.1, DPK |
Description
KCNK1 encodes the TWIK-1 (Tandem of Pore domains in a Weak Inward rectifying K+ channel 1) protein, a member of the two-pore-domain potassium channel family. This channel mediates background potassium currents, contributing to the regulation of resting membrane potential and cellular excitability. TWIK-1 is widely expressed in various tissues, including brain, heart, and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Birk-Barel syndrome | Loss-of-function mutations in KCNK1 cause impaired potassium conductance, leading to developmental delay and intellectual disability. | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in KCNK1 have been associated with autism, possibly through altered neuronal excitability. | ClinVar, literature |
| Epilepsy | Dysregulation of TWIK-1 channel activity may contribute to seizure susceptibility. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Low |
| Kidney | 15.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.5 | Neuroblastoma cell line |
| HEK 293 | 7.8 | Embryonic kidney cells |
| U-87 MG | 9.2 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.257G>A (p.Gly86Asp) | Missense | <0.01% | Loss of function; associated with Birk-Barel syndrome |
| c.434C>T (p.Pro145Leu) | Missense | <0.01% | Reduced channel activity; reported in autism |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish potassium channel activity, leading to neuronal hyperexcitability and developmental disorders.
Gain of Function (GOF)
No gain-of-function mutations have been reported for KCNK1.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by interfering with dimerization of wild-type subunits.
View complete mutation data：
Gene Ontology (GO)
| • inward rectifier potassium channel activity (GO:0005242) | • potassium ion transport (GO:0006813) |
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • potassium ion transmembrane transport (GO:0071805) |
Pathways
• Potassium channels (Reactome: R-HSA-1296071)
• Transmembrane transport of small molecules (Reactome: R-HSA-382551)
Protein Summary
The TWIK-1 protein (UniProt O00180) is a 336-amino-acid potassium channel with four transmembrane segments and two pore domains. It forms homodimers and functions as a background potassium channel, stabilizing the resting membrane potential. TWIK-1 is inhibited by intracellular acidification and is involved in cell volume regulation and neuronal excitability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNK1 Knockout HEK293 Cell Line | EDJ-KQ4262 | Human | 3775 | Details Get a Quote |
| KCNK16 Knockout HEK293 Cell Line | EDJ-KQ9094 | Human | 83795 | Details Get a Quote |
| KCNK17 Knockout HEK293 Cell Line | EDJ-KQ9794 | Human | 89822 | Details Get a Quote |
| KCNK10 Knockout HEK293 Cell Line | EDJ-KQ11395 | Human | 54207 | Details Get a Quote |
| KCNK12 Knockout HEK293 Cell Line | EDJ-KQ13894 | Human | 56660 | Details Get a Quote |
| KCNK13 Knockout HEK293 Cell Line | EDJ-KQ13895 | Human | 56659 | Details Get a Quote |
| KCNK15 Knockout HEK293 Cell Line | EDJ-KQ13896 | Human | 60598 | Details Get a Quote |
| KCNK18 Knockout HEK293 Cell Line | EDJ-KQ13897 | Human | 338567 | Details Get a Quote |
| KCNK1 Knockout A-549 Cell Line | EDJ-KQ27956 | Human | 3775 | Details Get a Quote |
| KCNK1 Knockout HCT 116 Cell Line | EDJ-KQ27957 | Human | 3775 | Details Get a Quote |
| KCNK1 Knockout HeLa Cell Line | EDJ-KQ27958 | Human | 3775 | Details Get a Quote |
| KCNK13 Knockout HCT 116 Cell Line | EDJ-KQ43755 | Human | 56659 | Details Get a Quote |
| KCNK15 Knockout HeLa Cell Line | EDJ-KQ43756 | Human | 60598 | Details Get a Quote |
| KCNK10 Knockout HeLa Cell Line | EDJ-KQ56401 | Human | 54207 | Details Get a Quote |
| KCNK13 Knockout HeLa Cell Line | EDJ-KQ56746 | Human | 56659 | Details Get a Quote |
Displaying Records 1 To 15 Of 32 Records
- 1
- 2
- Next Page »
