KCNC1
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| Location (UCSC) | Chr 11: 17.73 – 17.86 Mb | Chr 7: 46.05 – 46.09 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Potassium voltage-gated channel subfamily C member 1 is a protein that in humans is encoded by the KCNC1 gene.[5][6][7]
The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and comprises four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes.[7]
Expression pattern
Kv3.1 and Kv3.2 channels are prominently expressed in
Physiological role
Kv3.1/Kv3.2 conductance is necessary and kinetically optimized for high-frequency action potential generation.[9][11] Kv3.1 channels are important for the high-firing frequency of auditory and fast-spiking GABAergic interneurons, retinal ganglion cells; regulation of action potential duration in presynaptic terminals.[8][10]
Pharmacological properties
Kv3.1 currents in heterologous systems are highly sensitive to external tetraethylammonium (TEA) or 4-aminopyridine (4-AP) (IC50 values are 0.2 mM and 29 μM respectively).[9][10] This can be useful in identifying native channels.[9] The overlapping sensitivity of potassium current to both 0.5 mM TEA and 30 μM 4-AP strongly suggest an action on Kv3.1 subunits.[12]
Transcript variants
There are two transcript variants of Kv3.1 gene: Kv3.1a and Kv3.1b. Kv3.1 isoforms differ only in their C-terminal sequence.[13]
Clinical significance
A missense mutation c.959G>A (p.Arg320His) in KCNC1 causes progressive myoclonus epilepsy.[14]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000129159 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058975 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 8449507.
- S2CID 219195192.
- ^ a b "Entrez Gene: KCNC1 potassium voltage-gated channel, Shaw-related subfamily, member 1".
- ^ a b Kolodin YO (2008-04-27). "Ionic conductances underlying excitability in tonically firing retinal ganglion cells of adult rat". Retrieved 2008-10-20.
- ^ S2CID 36100588.
- ^ S2CID 219195192.
- PMID 12657664.
- PMID 15528247.
- S2CID 25289187.
- PMID 25401298.
Further reading
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. PMID 16344560.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. PMID 14702039.
- Devaux J, Alcaraz G, Grinspan J, et al. (2003). "Kv3.1b is a novel component of CNS nodes". J. Neurosci. 23 (11): 4509–18. PMID 12805291.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Ottschytsch N, Raes A, Van Hoorick D, Snyders DJ (2002). "Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 7986–91. PMID 12060745.
- Xu J, Yu W, Jan YN, et al. (1995). "Assembly of voltage-gated potassium channels. Conserved hydrophilic motifs determine subfamily-specific interactions between the alpha-subunits". J. Biol. Chem. 270 (42): 24761–8. PMID 7559593.
- Grissmer S, Ghanshani S, Dethlefs B, et al. (1992). "The Shaw-related potassium channel gene, Kv3.1, on human chromosome 11, encodes the type l K+ channel in T cells". J. Biol. Chem. 267 (29): 20971–9. PMID 1400413.
External links
- Kv3.1+Potassium+Channel at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- KCNC1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.