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Potassium voltage-gated channel subfamily KQT member 3 (KQT-like 3) (Potassium channel subunit alpha KvLQT3) (Voltage-gated potassium channel subunit Kv7.3)

 KCNQ3_HUMAN             Reviewed;         872 AA.
O43525; A2VCT8; B4DJY4; E7EQ89;
15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
15-JUL-1999, sequence version 2.
20-JUN-2018, entry version 177.
RecName: Full=Potassium voltage-gated channel subfamily KQT member 3 {ECO:0000305};
AltName: Full=KQT-like 3;
AltName: Full=Potassium channel subunit alpha KvLQT3;
AltName: Full=Voltage-gated potassium channel subunit Kv7.3;
Name=KCNQ3 {ECO:0000312|HGNC:HGNC:6297};
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], CHARACTERIZATION OF VARIANT BFNS2
VAL-310, MUTAGENESIS OF GLY-318, AND FUNCTION.
TISSUE=Brain;
PubMed=9872318; DOI=10.1038/25367;
Schroeder B.C., Kubisch C., Stein V., Jentsch T.J.;
"Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+
channels causes epilepsy.";
Nature 396:687-690(1998).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND CHARACTERIZATION.
TISSUE=Brain, and Fetal brain;
PubMed=9677360; DOI=10.1074/jbc.273.31.19419;
Yang W.-P., Levesque P.C., Little W.A., Conder M.L., Ramakrishnan P.,
Neubauer M.G., Blanar M.A.;
"Functional expression of two KvLQT1-related potassium channels
responsible for an inherited idiopathic epilepsy.";
J. Biol. Chem. 273:19419-19423(1998).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Thalamus;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16421571; DOI=10.1038/nature04406;
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S.,
Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C.,
O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
Lander E.S.;
"DNA sequence and analysis of human chromosome 8.";
Nature 439:331-335(2006).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-7; 34-588 AND 601-872
(ISOFORM 1).
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
NUCLEOTIDE SEQUENCE [MRNA] OF 48-872 (ISOFORM 1), AND VARIANT BFNS2
VAL-310.
TISSUE=Brain;
PubMed=9425900; DOI=10.1038/ng0198-53;
Charlier C., Singh N.A., Ryan S.G., Lewis T.B., Reus B.E., Leach R.J.,
Leppert M.;
"A pore mutation in a novel KQT-like potassium channel gene in an
idiopathic epilepsy family.";
Nat. Genet. 18:53-55(1998).
[7]
INVOLVEMENT IN M-LIKE CURRENT.
PubMed=10479678;
Selyanko A.A., Hadley J.K., Wood I.C., Abogadie F.C., Delmas P.,
Buckley N.J., London B., Brown D.A.;
"Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to
the M-like current in a mammalian neuronal cell.";
J. Neurosci. 19:7742-7756(1999).
[8]
ASSOCIATION WITH KCNE2.
PubMed=11034315; DOI=10.1016/S0014-5793(00)01918-9;
Tinel N., Diochot S., Lauritzen I., Barhanin J., Lazdunski M.,
Borsotto M.;
"M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2
subunit.";
FEBS Lett. 480:137-141(2000).
[9]
SUBCELLULAR LOCATION.
PubMed=10788442; DOI=10.1074/jbc.275.18.13343;
Schwake M., Pusch M., Kharkovets T., Jentsch T.J.;
"Surface expression and single channel properties of KCNQ2/KCNQ3, M-
type K+ channels involved in epilepsy.";
J. Biol. Chem. 275:13343-13348(2000).
[10]
INHIBITION BY M1 MUSCARINIC RECEPTORS.
PubMed=10684873;
Shapiro M.S., Roche J.P., Kaftan E.J., Cruzblanca H., Mackie K.,
Hille B.;
"Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+)
channels that underlie the neuronal M current.";
J. Neurosci. 20:1710-1721(2000).
[11]
INHIBITION BY M1 MUSCARINIC RECEPTORS.
PubMed=10713961; DOI=10.1111/j.1469-7793.2000.t01-2-00349.x;
Selyanko A.A., Hadley J.K., Wood I.C., Abogadie F.C., Jentsch T.J.,
Brown D.A.;
"Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells
via M1 muscarinic acetylcholine receptors.";
J. Physiol. (Lond.) 522:349-355(2000).
[12]
ACTIVATION BY RETICABINE.
PubMed=10908292;
Main M.J., Cryan J.E., Dupere J.R., Cox B., Clare J.J., Burbidge S.A.;
"Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant
retigabine.";
Mol. Pharmacol. 58:253-262(2000).
[13]
ACTIVATION BY RETICABINE.
PubMed=10953053;
Wickenden A.D., Yu W., Zou A., Jegla T., Wagoner P.K.;
"Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3
potassium channels.";
Mol. Pharmacol. 58:591-600(2000).
[14]
ACTIVATION BY RETICABINE.
PubMed=10713399; DOI=10.1016/S0304-3940(00)00866-1;
Rundfeldt C., Netzer R.;
"The novel anticonvulsant retigabine activates M-currents in Chinese
hamster ovary-cells transfected with human KCNQ2/3 subunits.";
Neurosci. Lett. 282:73-76(2000).
[15]
FUNCTION, SUBUNIT, AND ACTIVATION BY RETICABINE.
PubMed=11159685; DOI=10.1038/sj.bjp.0703861;
Wickenden A.D., Zou A., Wagoner P.K., Jegla T.;
"Characterization of KCNQ5/Q3 potassium channels expressed in
mammalian cells.";
Br. J. Pharmacol. 132:381-384(2001).
[16]
FUNCTION, PHOSPHORYLATION AT THR-246, AND MUTAGENESIS OF THR-246.
PubMed=16319223; DOI=10.1073/pnas.0509122102;
Surti T.S., Huang L., Jan Y.N., Jan L.Y., Cooper E.C.;
"Identification by mass spectrometry and functional characterization
of two phosphorylation sites of KCNQ2/KCNQ3 channels.";
Proc. Natl. Acad. Sci. U.S.A. 102:17828-17833(2005).
[17]
UBIQUITINATION BY NEDD4L.
PubMed=27445338; DOI=10.1074/jbc.M116.722637;
Anta B., Martin-Rodriguez C., Gomis-Perez C., Calvo L.,
Lopez-Benito S., Calderon-Garcia A.A., Vicente-Garcia C.,
Villarroel A., Arevalo J.C.;
"Ubiquitin-specific Protease 36 (USP36) Controls Neuronal Precursor
Cell-expressed Developmentally Down-regulated 4-2 (Nedd4-2) Actions
over the Neurotrophin Receptor TrkA and Potassium Voltage-gated
Channels 7.2/3 (Kv7.2/3).";
J. Biol. Chem. 291:19132-19145(2016).
[18] {ECO:0000244|PDB:5J03}
X-RAY CRYSTALLOGRAPHY (2.00 ANGSTROMS) OF 354-409 IN COMPLEX WITH
CALMODULIN, SUBUNIT, INTERACTION WITH CALMODULIN, AND REGION.
PubMed=27564677; DOI=10.1021/acs.biochem.6b00477;
Strulovich R., Tobelaim W.S., Attali B., Hirsch J.A.;
"Structural insights into the M-channel proximal C-terminus/calmodulin
complex.";
Biochemistry 55:5353-5365(2016).
[19]
VARIANT BFNS2 ARG-309.
PubMed=10852552;
DOI=10.1002/1531-8249(200006)47:6<822::AID-ANA19>3.3.CO;2-O;
Hirose S., Zenri F., Akiyoshi H., Fukuma G., Iwata H., Inoue T.,
Yonetani M., Tsutsumi M., Muranaka H., Kurokawa T., Hanai T., Wada K.,
Kaneko S., Mitsudome A.;
"A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with
benign familial neonatal convulsions.";
Ann. Neurol. 47:822-826(2000).
[20]
VARIANTS BFNS2 GLY-305 AND VAL-310, CHARACTERIZATION OF VARIANT BFNS2
GLY-305, VARIANT SER-468, CHARACTERIZATION OF VARIANT SER-468, AND
FUNCTION.
PubMed=14534157; DOI=10.1093/brain/awg286;
The BFNC physician consortium;
Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J.,
Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F.;
"KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal
convulsions: expansion of the functional and mutation spectrum.";
Brain 126:2726-2737(2003).
[21]
VARIANT SER-574.
PubMed=22612257; DOI=10.1111/j.1528-1167.2012.03516.x;
Lemke J.R., Riesch E., Scheurenbrand T., Schubach M., Wilhelm C.,
Steiner I., Hansen J., Courage C., Gallati S., Buerki S., Strozzi S.,
Simonetti B.G., Grunt S., Steinlin M., Alber M., Wolff M.,
Klopstock T., Prott E.C., Lorenz R., Spaich C., Rona S.,
Lakshminarasimhan M., Kroell J., Dorn T., Kraemer G., Synofzik M.,
Becker F., Weber Y.G., Lerche H., Boehm D., Biskup S.;
"Targeted next generation sequencing as a diagnostic tool in epileptic
disorders.";
Epilepsia 53:1387-1398(2012).
[22]
VARIANT CYS-780.
PubMed=23360469; DOI=10.1111/epi.12089;
Zara F., Specchio N., Striano P., Robbiano A., Gennaro E.,
Paravidino R., Vanni N., Beccaria F., Capovilla G., Bianchi A.,
Caffi L., Cardilli V., Darra F., Bernardina B.D., Fusco L.,
Gaggero R., Giordano L., Guerrini R., Incorpora G., Mastrangelo M.,
Spaccini L., Laverda A.M., Vecchi M., Vanadia F., Veggiotti P.,
Viri M., Occhi G., Budetta M., Taglialatela M., Coviello D.A.,
Vigevano F., Minetti C.;
"Genetic testing in benign familial epilepsies of the first year of
life: clinical and diagnostic significance.";
Epilepsia 54:425-436(2013).
[23]
VARIANT BFNS2 VAL-340.
PubMed=25982755; DOI=10.1111/epi.13020;
Grinton B.E., Heron S.E., Pelekanos J.T., Zuberi S.M., Kivity S.,
Afawi Z., Williams T.C., Casalaz D.M., Yendle S., Linder I., Lev D.,
Lerman-Sagie T., Malone S., Bassan H., Goldberg-Stern H., Stanley T.,
Hayman M., Calvert S., Korczyn A.D., Shevell M., Scheffer I.E.,
Mulley J.C., Berkovic S.F.;
"Familial neonatal seizures in 36 families: Clinical and genetic
features correlate with outcome.";
Epilepsia 56:1071-1080(2015).
-!- FUNCTION: Associates with KCNQ2 or KCNQ5 to form a potassium
channel with essentially identical properties to the channel
underlying the native M-current, a slowly activating and
deactivating potassium conductance which plays a critical role in
determining the subthreshold electrical excitability of neurons as
well as the responsiveness to synaptic inputs. Therefore, it is
important in the regulation of neuronal excitability.
{ECO:0000269|PubMed:11159685, ECO:0000269|PubMed:14534157,
ECO:0000269|PubMed:16319223, ECO:0000269|PubMed:9872318}.
-!- SUBUNIT: Heterotetramer with KCNQ2; form the heterotetrameric M
potassium channel (PubMed:27564677). Interacts with calmodulin;
the interaction is calcium-independent, constitutive and
participates to the proper assembly of a functional
heterotetrameric M channel (PubMed:27564677). Heteromultimer with
KCNQ5 (PubMed:11159685). May associate with KCNE2
(PubMed:11034315). Interacts with IQCJ-SCHIP1 (By similarity).
{ECO:0000250|UniProtKB:Q8K3F6, ECO:0000269|PubMed:11034315,
ECO:0000269|PubMed:11159685, ECO:0000269|PubMed:27564677}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10788442};
Multi-pass membrane protein {ECO:0000255}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=O43525-1; Sequence=Displayed;
Name=2;
IsoId=O43525-2; Sequence=VSP_044906, VSP_044907;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Predominantly expressed in brain.
-!- DOMAIN: The segment S4 is probably the voltage-sensor and is
characterized by a series of positively charged amino acids at
every third position. {ECO:0000250}.
-!- PTM: KCNQ2/KCNQ3 are ubiquitinated by NEDD4L. Ubiquitination leads
to protein degradation (Probable). Degradation induced by NEDD4L
is inhibited by USP36 (PubMed:27445338).
{ECO:0000269|PubMed:27445338, ECO:0000305|PubMed:27445338}.
-!- DISEASE: Seizures, benign familial neonatal 2 (BFNS2)
[MIM:121201]: A disorder characterized by clusters of seizures
occurring in the first days of life. Most patients have
spontaneous remission by 12 months of age and show normal
psychomotor development. The disorder is distinguished from benign
familial infantile seizures by an earlier age at onset.
{ECO:0000269|PubMed:10852552, ECO:0000269|PubMed:14534157,
ECO:0000269|PubMed:25982755, ECO:0000269|PubMed:9425900,
ECO:0000269|PubMed:9872318}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Note=Defects in KCNQ3 may be involved in epileptic
disorders. These are characterized by paroxysmal transient
disturbances of the electrical activity of the brain that may be
manifested as episodic impairment or loss of consciousness,
abnormal motor phenomena, psychic or sensory disturbances, or
perturbation of the autonomic nervous system.
{ECO:0000269|PubMed:22612257}.
-!- SIMILARITY: Belongs to the potassium channel family. KQT (TC
1.A.1.15) subfamily. Kv7.3/KCNQ3 sub-subfamily. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAI28577.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Sequence=AAI28577.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
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EMBL; AF071491; AAC96101.1; -; Genomic_DNA.
EMBL; AF071478; AAC96101.1; JOINED; Genomic_DNA.
EMBL; AF071479; AAC96101.1; JOINED; Genomic_DNA.
EMBL; AF071480; AAC96101.1; JOINED; Genomic_DNA.
EMBL; AF071481; AAC96101.1; JOINED; Genomic_DNA.
EMBL; AF071482; AAC96101.1; JOINED; Genomic_DNA.
EMBL; AF071483; AAC96101.1; JOINED; Genomic_DNA.
EMBL; AF071484; AAC96101.1; JOINED; Genomic_DNA.
EMBL; AF071485; AAC96101.1; JOINED; Genomic_DNA.
EMBL; AF071486; AAC96101.1; JOINED; Genomic_DNA.
EMBL; AF071487; AAC96101.1; JOINED; Genomic_DNA.
EMBL; AF071488; AAC96101.1; JOINED; Genomic_DNA.
EMBL; AF071489; AAC96101.1; JOINED; Genomic_DNA.
EMBL; AF071490; AAC96101.1; JOINED; Genomic_DNA.
EMBL; AK296293; BAG58996.1; -; mRNA.
EMBL; AC018540; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC123776; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC131042; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC136373; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC128576; AAI28577.1; ALT_SEQ; mRNA.
EMBL; AF033347; AAB97314.1; -; mRNA.
CCDS; CCDS34943.1; -. [O43525-1]
CCDS; CCDS56554.1; -. [O43525-2]
RefSeq; NP_001191753.1; NM_001204824.1. [O43525-2]
RefSeq; NP_004510.1; NM_004519.3. [O43525-1]
UniGene; Hs.374023; -.
PDB; 5J03; X-ray; 2.00 A; A=354-409.
PDBsum; 5J03; -.
ProteinModelPortal; O43525; -.
SMR; O43525; -.
BioGrid; 109987; 2.
CORUM; O43525; -.
STRING; 9606.ENSP00000373648; -.
BindingDB; O43525; -.
ChEMBL; CHEMBL2684; -.
DrugBank; DB00321; Amitriptyline.
DrugBank; DB00586; Diclofenac.
DrugBank; DB04953; Ezogabine.
DrugBank; DB06089; ICA-105665.
DrugBank; DB00939; Meclofenamic acid.
GuidetoPHARMACOLOGY; 562; -.
TCDB; 1.A.1.15.3; the voltage-gated ion channel (vic) superfamily.
iPTMnet; O43525; -.
PhosphoSitePlus; O43525; -.
BioMuta; KCNQ3; -.
PaxDb; O43525; -.
PeptideAtlas; O43525; -.
PRIDE; O43525; -.
ProteomicsDB; 49030; -.
DNASU; 3786; -.
Ensembl; ENST00000388996; ENSP00000373648; ENSG00000184156. [O43525-1]
Ensembl; ENST00000521134; ENSP00000429799; ENSG00000184156. [O43525-2]
GeneID; 3786; -.
KEGG; hsa:3786; -.
UCSC; uc003yti.4; human. [O43525-1]
CTD; 3786; -.
DisGeNET; 3786; -.
EuPathDB; HostDB:ENSG00000184156.15; -.
GeneCards; KCNQ3; -.
HGNC; HGNC:6297; KCNQ3.
MalaCards; KCNQ3; -.
MIM; 121201; phenotype.
MIM; 602232; gene.
neXtProt; NX_O43525; -.
OpenTargets; ENSG00000184156; -.
Orphanet; 306; Benign familial infantile epilepsy.
Orphanet; 1949; Benign familial neonatal seizures.
Orphanet; 307; Juvenile myoclonic epilepsy.
PharmGKB; PA30075; -.
eggNOG; KOG1419; Eukaryota.
eggNOG; COG1226; LUCA.
GeneTree; ENSGT00550000074513; -.
HOGENOM; HOG000220839; -.
HOVERGEN; HBG059014; -.
InParanoid; O43525; -.
KO; K04928; -.
OMA; RNEPYVA; -.
OrthoDB; EOG091G02ZT; -.
PhylomeDB; O43525; -.
TreeFam; TF315186; -.
Reactome; R-HSA-1296072; Voltage gated Potassium channels.
Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
SIGNOR; O43525; -.
ChiTaRS; KCNQ3; human.
GeneWiki; KvLQT3; -.
GenomeRNAi; 3786; -.
PRO; PR:O43525; -.
Proteomes; UP000005640; Chromosome 8.
Bgee; ENSG00000184156; -.
CleanEx; HS_KCNQ3; -.
ExpressionAtlas; O43525; baseline and differential.
Genevisible; O43525; HS.
GO; GO:0043194; C:axon initial segment; ISS:BHF-UCL.
GO; GO:0009986; C:cell surface; IEA:Ensembl.
GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
GO; GO:0005887; C:integral component of plasma membrane; IDA:UniProtKB.
GO; GO:0033268; C:node of Ranvier; ISS:BHF-UCL.
GO; GO:0005886; C:plasma membrane; ISS:BHF-UCL.
GO; GO:0008076; C:voltage-gated potassium channel complex; IDA:UniProtKB.
GO; GO:0005516; F:calmodulin binding; IDA:UniProtKB.
GO; GO:0005249; F:voltage-gated potassium channel activity; IDA:UniProtKB.
GO; GO:0007268; P:chemical synaptic transmission; TAS:ProtInc.
GO; GO:0060081; P:membrane hyperpolarization; IEA:Ensembl.
GO; GO:0071805; P:potassium ion transmembrane transport; IDA:UniProtKB.
GO; GO:0034765; P:regulation of ion transmembrane transport; IEA:UniProtKB-KW.
InterPro; IPR020969; Ankyrin-G_BS.
InterPro; IPR005821; Ion_trans_dom.
InterPro; IPR003937; K_chnl_volt-dep_KCNQ.
InterPro; IPR003948; K_chnl_volt-dep_KCNQ3.
InterPro; IPR013821; K_chnl_volt-dep_KCNQ_C.
InterPro; IPR028325; VG_K_chnl.
PANTHER; PTHR11537; PTHR11537; 1.
PANTHER; PTHR11537:SF5; PTHR11537:SF5; 1.
Pfam; PF00520; Ion_trans; 1.
Pfam; PF03520; KCNQ_channel; 1.
Pfam; PF11956; KCNQC3-Ank-G_bd; 1.
PRINTS; PR00169; KCHANNEL.
PRINTS; PR01462; KCNQ3CHANNEL.
PRINTS; PR01459; KCNQCHANNEL.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell membrane; Complete proteome;
Disease mutation; Epilepsy; Ion channel; Ion transport; Membrane;
Phosphoprotein; Polymorphism; Potassium; Potassium channel;
Potassium transport; Reference proteome; Transmembrane;
Transmembrane helix; Transport; Ubl conjugation;
Voltage-gated channel.
CHAIN 1 872 Potassium voltage-gated channel subfamily
KQT member 3.
/FTId=PRO_0000054034.
TOPO_DOM 1 121 Cytoplasmic. {ECO:0000255}.
TRANSMEM 122 142 Helical; Name=Segment S1. {ECO:0000255}.
TOPO_DOM 143 152 Extracellular. {ECO:0000255}.
TRANSMEM 153 173 Helical; Name=Segment S2. {ECO:0000255}.
TOPO_DOM 174 196 Cytoplasmic. {ECO:0000255}.
TRANSMEM 197 217 Helical; Name=Segment S3. {ECO:0000255}.
TOPO_DOM 218 225 Extracellular. {ECO:0000255}.
TRANSMEM 226 247 Helical; Voltage-sensor; Name=Segment S4.
{ECO:0000255}.
TOPO_DOM 248 261 Cytoplasmic. {ECO:0000255}.
TRANSMEM 262 282 Helical; Name=Segment S5. {ECO:0000255}.
TOPO_DOM 283 303 Extracellular. {ECO:0000255}.
INTRAMEM 304 324 Pore-forming; Name=Segment H5.
{ECO:0000255}.
TOPO_DOM 325 330 Extracellular. {ECO:0000255}.
TRANSMEM 331 351 Helical; Name=Segment S6. {ECO:0000255}.
TOPO_DOM 352 872 Cytoplasmic. {ECO:0000255}.
REGION 356 537 Mediates interaction with calmodulin.
{ECO:0000269|PubMed:27564677}.
MOTIF 316 321 Selectivity filter. {ECO:0000250}.
COMPBIAS 13 24 Poly-Gly.
MOD_RES 81 81 Phosphothreonine.
{ECO:0000250|UniProtKB:O88944}.
MOD_RES 246 246 Phosphothreonine.
{ECO:0000269|PubMed:16319223}.
VAR_SEQ 1 9 MGLKARRAA -> MKPAEHATM (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_044906.
VAR_SEQ 10 129 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_044907.
VARIANT 305 305 D -> G (in BFNS2; reduces the maximal
heteromeric current by 40% with no
alteration in voltage dependence of
activation or deactivation kinetics;
dbSNP:rs118192248).
{ECO:0000269|PubMed:14534157}.
/FTId=VAR_026994.
VARIANT 309 309 W -> R (in BFNS2; dbSNP:rs118192249).
{ECO:0000269|PubMed:10852552}.
/FTId=VAR_010935.
VARIANT 310 310 G -> V (in BFNS2; about 50% reduction of
wild-type heteromeric current; ratio of
1:1; or 20%; ratio of 1:1:2;
dbSNP:rs118192250).
{ECO:0000269|PubMed:14534157,
ECO:0000269|PubMed:9425900,
ECO:0000269|PubMed:9872318}.
/FTId=VAR_001546.
VARIANT 340 340 G -> V (in BFNS2; unknown pathological
significance).
{ECO:0000269|PubMed:25982755}.
/FTId=VAR_078681.
VARIANT 414 414 E -> G (in dbSNP:rs2303995).
/FTId=VAR_053859.
VARIANT 468 468 N -> S (has no statistically significant
effect on the current or biophysical
properties of the heteromeric channel;
dbSNP:rs118192252).
{ECO:0000269|PubMed:14534157}.
/FTId=VAR_026995.
VARIANT 574 574 P -> S (rare variant; found in a patient
with rolandic epilepsy and additional
features such as mild developmental delay
and abnormal behavior; unknown
pathological significance;
dbSNP:rs74582884).
{ECO:0000269|PubMed:22612257}.
/FTId=VAR_072741.
VARIANT 780 780 R -> C (found in patients with benign
familial infantile seizures; unknown
pathological significance;
dbSNP:rs138852641).
{ECO:0000269|PubMed:23360469}.
/FTId=VAR_078682.
MUTAGEN 246 246 T->A: No effect on current or expression.
{ECO:0000269|PubMed:16319223}.
MUTAGEN 246 246 T->D: Abolishes currents without reducing
channel protein expression.
{ECO:0000269|PubMed:16319223}.
MUTAGEN 318 318 G->S: >50% Reduction of wt heteromeric
current; ratio of 1:1 and 1:1:2.
{ECO:0000269|PubMed:9872318}.
CONFLICT 62 62 D -> N (in Ref. 5; AAI28577).
{ECO:0000305}.
CONFLICT 233 233 Q -> L (in Ref. 3; BAG58996).
{ECO:0000305}.
HELIX 373 386 {ECO:0000244|PDB:5J03}.
HELIX 397 403 {ECO:0000244|PDB:5J03}.
SEQUENCE 872 AA; 96742 MW; BB79C69EE8591A84 CRC64;
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


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