SK3
| KCNN3 | |||
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Gene ontology | |||
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| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 1: 154.7 – 154.87 Mb | Chr 3: 89.43 – 89.58 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
SK3 (small conductance calcium-activated potassium channel 3) also known as KCa2.3 is a protein that in humans is encoded by the KCNN3 gene.[5][6]
SK3 is a small-conductance
IUPHAR has recently achieved consensus on the best names, KCa2.1 (SK1), KCa2.2 (SK2) and KCa2.3 (SK3).[6]
Small conductance channels are responsible for the medium and possibly the slow components of the IAHP.
Structure
KCa2.3 contains 6 transmembrane domains, a pore-forming region, and intracellular N- and C- termini[7][8] and is readily blocked by apamin. The gene for KCa2.3, KCNN3, is located on chromosome 1q21.
Expression
KCa2.3 is found in the
The
gender reassignment surgery was found to be increased up to 5-fold.[7] The influence of estrogen on KCa2.3 has also been established in the hypothalamus, uterine and skeletal muscle.[10]
Physiology
KCa2.3 channels play a major role in human physiology, particularly in smooth muscle relaxation. The expression level of KCa2.3 channels in the endothelium influences arterial tone by setting arterial smooth muscle membrane potential. The sustained activity of KCa2.3 channels induces a sustained hyperpolarisation of the endothelial cell membrane potential, which is then carried to nearby smooth muscle through gap junctions.[11] Blocking the KCa2.3 channel or suppressing KCa2.3 expression causes a greatly increased tone in resistance arteries, producing an increase in peripheral resistance and blood pressure.
Pathology
myotonic muscular dystrophy.[15]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000143603 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000794 – 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 9491810.
- ^ S2CID 8290401.
- ^ S2CID 6309146.
- S2CID 11603552.
- S2CID 13139192.
- ^ PMID 12659870.
- PMID 12805243.
- S2CID 24415070.
- PMID 16157352.
- S2CID 1569495.
- S2CID 11678544.
Further reading
- Glatt SJ, Faraone SV, Tsuang MT (2003). "CAG-repeat length in exon 1 of KCNN3 does not influence risk for schizophrenia or bipolar disorder: a meta-analysis of association studies". Am. J. Med. Genet. B Neuropsychiatr. Genet. 121B (1): 14–20. S2CID 7397950.
- Ivković M, Ranković V, Tarasjev A, et al. (2006). "Schizophrenia and polymorphic CAG repeats array of calcium-activated potassium channel (KCNN3) gene in Serbian population". Int. J. Neurosci. 116 (2): 157–64. S2CID 31789520.
- Uhl GR, Liu QR, Drgon T, et al. (2008). "Molecular genetics of successful smoking cessation: convergent genome-wide association study results". Arch. Gen. Psychiatry. 65 (6): 683–93. PMID 18519826.
- Curtain R, Sundholm J, Lea R, et al. (2005). "Association analysis of a highly polymorphic CAG Repeat in the human potassium channel gene KCNN3 and migraine susceptibility". BMC Med. Genet. 6: 32. PMID 16162291.
- Dagle JM, Lepp NT, Cooper ME, et al. (2009). "Determination of genetic predisposition to patent ductus arteriosus in preterm infants". Pediatrics. 123 (4): 1116–23. PMID 19336370.
- Rinaldi F, Botta A, Vallo L, et al. (2008). "Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients". Acta Myol. 27 (3): 82–9. PMID 19472917.
- Decimo I, Roncarati R, Grasso S, et al. (2006). "SK3 trafficking in hippocampal cells: the role of different molecular domains". Biosci. Rep. 26 (6): 399–412. S2CID 38653604.
- Laurent C, Niehaus D, Bauché S, et al. (2003). "CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia". Am. J. Med. Genet. B Neuropsychiatr. Genet. 116B (1): 45–50. S2CID 20643826.
- Ritsner M, Amir S, Koronyo-Hamaoui M, et al. (2003). "Association study of CAG repeats in the KCNN3 gene in Israeli patients with major psychosis". Psychiatr. Genet. 13 (3): 143–50. S2CID 11378997.
- Gao Y, Chotoo CK, Balut CM, et al. (2008). "Role of S3 and S4 transmembrane domain charged amino acids in channel biogenesis and gating of KCa2.3 and KCa3.1". J. Biol. Chem. 283 (14): 9049–59. PMID 18227067.
- Zhou Z, Jiang DJ, Jia SJ, et al. (2007). "Down-regulation of endogenous nitric oxide synthase inhibitors on endothelial SK3 expression". Vascul. Pharmacol. 47 (5–6): 265–71. PMID 17869187.
- Koronyo-Hamaoui M, Gak E, Stein D, et al. (2004). "CAG repeat polymorphism within the KCNN3 gene is a significant contributor to susceptibility to anorexia nervosa: a case-control study of female patients and several ethnic groups in the Israeli Jewish population". Am. J. Med. Genet. B Neuropsychiatr. Genet. 131B (1): 76–80. S2CID 24415070.
- Kolski-Andreaco A, Tomita H, Shakkottai VG, et al. (2004). "SK3-1C, a dominant-negative suppressor of SKCa and IKCa channels". J. Biol. Chem. 279 (8): 6893–904. PMID 14638680.
- Piotrowska AP, Solari V, Puri P (2003). "Distribution of Ca2+-activated K channels, SK2 and SK3, in the normal and Hirschsprung's disease bowel". J. Pediatr. Surg. 38 (6): 978–83. PMID 12778407.
- Hong XH, Xu CT, Yang Q, Wu CR (2005). "[Transmission disequilibrium analysis of 1137-1140 Del GTGA frameshift mutation within the KCNN3 gene and schizophrenia based on family trios]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 22 (4): 441–3. PMID 16086287.
- Rhodes JD, Monckton DG, McAbney JP, et al. (2006). "Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility". Hum. Mol. Genet. 15 (24): 3559–68. PMID 17101631.
- Tomita H, Shakkottai VG, Gutman GA, et al. (2003). "Novel truncated isoform of SK3 potassium channel is a potent dominant-negative regulator of SK currents: implications in schizophrenia". Mol. Psychiatry. 8 (5): 524–35, 460. S2CID 1569495.
- Monaghan AS, Benton DC, Bahia PK, et al. (2004). "The SK3 subunit of small conductance Ca2+-activated K+ channels interacts with both SK1 and SK2 subunits in a heterologous expression system". J. Biol. Chem. 279 (2): 1003–9. PMID 14559917.
- de Krom M, Staal WG, Ophoff RA, et al. (2009). "A common variant in DRD3 receptor is associated with autism spectrum disorder". Biol. Psychiatry. 65 (7): 625–30. S2CID 11545813.