KCNK1
Description
The KCNK1 (potassium two pore domain channel subfamily K member 1) is a protein-coding gene located on chromosome 1.
Potassium channel subfamily K member 1 is a protein that in humans is encoded by the KCNK1 gene. This gene encodes K2P1.1, a member 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, and it may require other non-pore-forming proteins for activity.
KCNK1 encodes a potassium channel protein that plays a role in passive transmembrane potassium transport and regulates resting membrane potential. It forms dimeric channels through which potassium ions pass along their electrochemical gradient. KCNK1 exhibits selectivity for potassium ions at physiological concentrations and neutral pH, but becomes permeable to sodium ions at lower potassium levels and under acidic conditions. While the homodimeric form of KCNK1 demonstrates low potassium channel activity, it can act as a weakly inward rectifying potassium channel. Channel activity is influenced by the activation of serotonin receptors. Heterodimeric channels composed of KCNK1 and KCNK2 exhibit significantly higher activity and may be the predominant form in astrocytes. Heterodimers with KCNK3 or KCNK9 also display increased activity, with KCNK1-KCNK9 potentially contributing to halothane-sensitive currents. KCNK1 mediates outward rectifying potassium currents in dentate gyrus granule cells, regulating their resting membrane potential and action potential firing. In astrocytes, the KCNK1-KCNK2 heterodimer is essential for rapid glutamate release in response to G-protein coupled receptor activation. KCNK1 is required for normal ion and water transport in the kidney and contributes to regulating the resting membrane potential of pancreatic beta cells. The low channel activity of homodimeric KCNK1 may be due to sumoylation or rapid internalization from the cell membrane. KCNK1 forms homodimers through disulfide bonds and heterodimers with KCNK2, the latter being the primary functional form in astrocytes. KCNK1 interacts with KCNK3, KCNK9, GNG4, PSD, and ARF6, and is found in a complex with PSD and ARF6. It also interacts with UBE2I.
KCNK1 is also known as DPK, HOHO, K2P1, K2p1.1, KCNO1, TWIK-1, TWIK1.
Associated Diseases
- thyroid gland adenocarcinoma
- breast cancer
- Pallister-Hall syndrome
- Dent disease
- hypercalcemia, infantile, 2
- Fanconi renotubular syndrome 1
- hypophosphatemic nephrolithiasis/osteoporosis 1
- hypophosphatemic nephrolithiasis/osteoporosis 2
- primary Fanconi syndrome
- primary hyperoxaluria type 3
- renal hypomagnesemia 2
- medullary sponge kidney
