KCNQ3

KCNQ3
Identifikatori
Aliasi	KCNQ3
Vanjski ID-jevi	OMIM: 602232 MGI: 1336181 HomoloGene: 20949 GeneCards: KCNQ3
Lokacija gena (čovjek)
Hrom.	Hromosom 8 (čovjek)
Kraj	132,481,095 bp
Lokacija gena (miš)
Hrom.	Hromosom 15 (miš)
Kraj	66,158,491 bp
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
	3786
	110862
	ENSG00000184156
	ENSMUSG00000056258
	O43525
	Q8K3F6
	NM_001204824; NM_004519
	NM_152923
	NP_001191753; NP_004510
	NP_690887
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000184156 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000056258 - Ensembl, maj 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.
^ ^a ^b "Entrez Gene: KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3".
^ "UniProt, O43525" (jezik: engleski). Pristupljeno 19. 9. 2021.
^ 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000184156 - Ensembl, maj 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3".

[UniProt-6] "UniProt, O43525" (jezik: engleski). Pristupljeno 19. 9. 2021.

[pmid12890507-7] 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.

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