KCNQ3

KCNQ3
Identifikatori
Aliasi	KCNQ3
Vanjski ID-jevi	OMIM: 602232 MGI: 1336181 HomoloGene: 20949 GeneCards: KCNQ3
Lokacija gena (čovjek) Hrom. Hromosom 8 (čovjek)[1] Bend 8q24.22 Početak 132,120,859 bp[1] Kraj 132,481,095 bp[1]
Lokacija gena (miš) Hrom. Hromosom 15 (miš)[2] Bend 15 D1|15 29.16 cM Početak 65,858,236 bp[2] Kraj 66,158,491 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • voltage-gated ion channel activity • ion channel activity • voltage-gated potassium channel activity • potassium channel activity • calmodulin binding • GO:0001948, GO:0016582 vezivanje za proteine • delayed rectifier potassium channel activity Ćelijska komponenta • membrana • ćelijska membrana • Ranvijerov čvor • cell surface • axon initial segment • integral component of membrane • integral component of plasma membrane • voltage-gated potassium channel complex Biološki proces • membrane hyperpolarization • regulation of ion transmembrane transport • ion transport • transmembrane transport • chemical synaptic transmission • potassium ion transport • potassium ion transmembrane transport Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	3786	110862
Ensembl	ENSG00000184156	ENSMUSG00000056258
UniProt	O43525	Q8K3F6
RefSeq (mRNK)	NM_001204824 NM_004519	NM_152923
RefSeq (bjelančevina)	NP_001191753 NP_004510	NP_690887
Lokacija (UCSC)	Chr 8: 132.12 – 132.48 Mb	Chr 15: 65.86 – 66.16 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

K_v7.3 (KvLQT3) je protein kalijevog kanala koji je kod ljudi kodiran genom KCNQ3.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 872 aminokiseline, а molekulska težina Da. 96 742^[6]

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

10		20		30		40		50
MGLKARRAAG		AAGGGGDGGG		GGGGAANPAG		GDAAAAGDEE		RKVGLAPGDV
EQVTLALGAG		ADKDGTLLLE		GGGRDEGQRR		TPQGIGLLAK		TPLSRPVKRN
NAKYRRIQTL		IYDALERPRG		WALLYHALVF		LIVLGCLILA		VLTTFKEYET
VSGDWLLLLE		TFAIFIFGAE		FALRIWAAGC		CCRYKGWRGR		LKFARKPLCM
LDIFVLIASV		PVVAVGNQGN		VLATSLRSLR		FLQILRMLRM		DRRGGTWKLL
GSAICAHSKE		LITAWYIGFL		TLILSSFLVY		LVEKDVPEVD		AQGEEMKEEF
ETYADALWWG		LITLATIGYG		DKTPKTWEGR		LIAATFSLIG		VSFFALPAGI
LGSGLALKVQ		EQHRQKHFEK		RRKPAAELIQ		AAWRYYATNP		NRIDLVATWR
FYESVVSFPF		FRKEQLEAAS		SQKLGLLDRV		RLSNPRGSNT		KGKLFTPLNV
DAIEESPSKE		PKPVGLNNKE		RFRTAFRMKA		YAFWQSSEDA		GTGDPMAEDR
GYGNDFPIED		MIPTLKAAIR		AVRILQFRLY		KKKFKETLRP		YDVKDVIEQY
SAGHLDMLSR		IKYLQTRIDM		IFTPGPPSTP		KHKKSQKGSA		FTFPSQQSPR
NEPYVARPST		SEIEDQSMMG		KFVKVERQVQ		DMGKKLDFLV		DMHMQHMERL
QVQVTEYYPT		KGTSSPAEAE		KKEDNRYSDL		KTIICNYSET		GPPEPPYSFH
QVTIDKVSPY		GFFAHDPVNL		PRGGPSSGKV		QATPPSSATT		YVERPTVLPI
LTLLDSRVSC		HSQADLQGPY		SDRISPRQRR		SITRDSDTPL		SLMSVNHEEL
ERSPSGFSIS		QDRDDYVFGP		NGGSSWMREK		RYLAEGETDT		DTDPFTPSGS
MPLSSTGDGI		SDSVWTPSNK		PI

Funkcija

M kanal je polahko aktivirajući i deaktivirajući kalijev kanal koji ima ključnu ulogu u regulaciji neuronske ekscitabilnosti. Nastaje asocijacijom proteina kodiranog ovim genom i jednog od dva srodna proteina kodirana genima KCNQ2 i KCNQ5, oba integralna membranska proteina. Strujanje M kanala inhibira M1 muskarinske acetilholinske receptore i aktivira retigabin, novi lijek protiv konvulzija. Mahane ovog gena uzrok su benignih porodičnih neonatusnih konvulzija tipa 2 (BFNC2), poznatih i kao epilepsija, benignog neonatusog tipa 2 (EBN2).^[5]

Interakcije

KvLQT3 je pokazao da stupa u interakcije sa KCNQ5.^[7]

Reference

1. GRCh38: Ensembl release 89: ENSG00000184156 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000056258 - Ensembl, maj 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3".
6. "UniProt, O43525" (jezik: engleski). Pristupljeno 19. 9. 2021.
7. Yus-Nájera, E; Muñoz A; Salvador N; Jensen B S; Rasmussen H B; Defelipe J; Villarroel A (2003). "Localization of KCNQ5 in the normal and epileptic human temporal neocortex and hippocampal formation". Neuroscience. 120 (2): 353–64. doi:10.1016/S0306-4522(03)00321-X. ISSN 0306-4522. PMID 12890507. S2CID 38381189.

Dopunska literatura

• Gutman GA, Chandy KG, Grissmer S, et al. (2006). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol. Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104. S2CID 219195192.
• Ryan SG, Wiznitzer M, Hollman C, et al. (1991). "Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity". Ann. Neurol. 29 (5): 469–73. doi:10.1002/ana.410290504. PMID 1859177. S2CID 25424485.
• Lewis TB, Leach RJ, Ward K, et al. (1993). "Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q". Am. J. Hum. Genet. 53 (3): 670–5. PMC 1682419. PMID 8102508.
• Charlier C, Singh NA, Ryan SG, et al. (1998). "A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family". Nat. Genet. 18 (1): 53–5. doi:10.1038/ng0198-53. PMID 9425900. S2CID 10437379.
• Yang WP, Levesque PC, Little WA, et al. (1998). "Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy". J. Biol. Chem. 273 (31): 19419–23. doi:10.1074/jbc.273.31.19419. PMID 9677360.
• Wang HS, Pan Z, Shi W, et al. (1998). "KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel". Science. 282 (5395): 1890–3. Bibcode:1998Sci...282.1890W. doi:10.1126/science.282.5395.1890. PMID 9836639.
• Schroeder BC, Kubisch C, Stein V, Jentsch TJ (1999). "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy". Nature. 396 (6712): 687–90. Bibcode:1998Natur.396..687S. doi:10.1038/25367. PMID 9872318. S2CID 4417442.
• Kubisch C, Schroeder BC, Friedrich T, et al. (1999). "KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness". Cell. 96 (3): 437–46. doi:10.1016/S0092-8674(00)80556-5. PMID 10025409.
• Selyanko AA, Hadley JK, Wood IC, et al. (1999). "Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell" (PDF). J. Neurosci. 19 (18): 7742–56. doi:10.1523/JNEUROSCI.19-18-07742.1999. PMC 6782456. PMID 10479678.
• Shapiro MS, Roche JP, Kaftan EJ, et al. (2000). "Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current". J. Neurosci. 20 (5): 1710–21. doi:10.1523/JNEUROSCI.20-05-01710.2000. PMC 6772928. PMID 10684873.
• Rundfeldt C, Netzer R (2000). "The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells tranfected with human KCNQ2/3 subunits". Neurosci. Lett. 282 (1–2): 73–6. doi:10.1016/S0304-3940(00)00866-1. PMID 10713399. S2CID 28431577.
• Selyanko AA, Hadley JK, Wood IC, et al. (2000). "Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors". J. Physiol. 522 Pt 3 (3): 349–55. doi:10.1111/j.1469-7793.2000.t01-2-00349.x. PMC 2269765. PMID 10713961.
• Cooper EC, Aldape KD, Abosch A, et al. (2000). "Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy". Proc. Natl. Acad. Sci. U.S.A. 97 (9): 4914–9. Bibcode:2000PNAS...97.4914C. doi:10.1073/pnas.090092797. PMC 18332. PMID 10781098.
• Schwake M, Pusch M, Kharkovets T, Jentsch TJ (2000). "Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy". J. Biol. Chem. 275 (18): 13343–8. doi:10.1074/jbc.275.18.13343. PMID 10788442.
• Hirose S, Zenri F, Akiyoshi H, et al. (2000). "A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions". Ann. Neurol. 47 (6): 822–6. doi:10.1002/1531-8249(200006)47:6<822::AID-ANA19>3.0.CO;2-X. PMID 10852552.
• Main MJ, Cryan JE, Dupere JR, et al. (2000). "Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine". Mol. Pharmacol. 58 (2): 253–62. doi:10.1124/mol.58.2.253. PMID 10908292.
• Wickenden AD, Yu W, Zou A, et al. (2000). "Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels". Mol. Pharmacol. 58 (3): 591–600. doi:10.1124/mol.58.3.591. PMID 10953053.
• Tinel N, Diochot S, Lauritzen I, et al. (2000). "M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit". FEBS Lett. 480 (2–3): 137–41. doi:10.1016/S0014-5793(00)01918-9. PMID 11034315. S2CID 8386123.
• Wickenden AD, Zou A, Wagoner PK, Jegla T (2001). "Characterization of KCNQ5/Q3 potassium channels expressed in mammalian cells". Br. J. Pharmacol. 132 (2): 381–4. doi:10.1038/sj.bjp.0703861. PMC 1572592. PMID 11159685.
• Yus-Najera E, Santana-Castro I, Villarroel A (2002). "The identification and characterization of a noncontinuous calmodulin-binding site in noninactivating voltage-dependent KCNQ potassium channels". J. Biol. Chem. 277 (32): 28545–53. doi:10.1074/jbc.M204130200. PMID 12032157.

Vanjski linkovi

• KCNQ3 Potassium Channel na US National Library of Medicine Medical Subject Headings (MeSH)

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.