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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.
29-SEP-2021, entry version 197.
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; DOI=10.1523/jneurosci.19-18-07742.1999;
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; DOI=10.1523/jneurosci.20-05-01710.2000;
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; DOI=10.1124/mol.58.2.253;
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; DOI=10.1124/mol.58.3.591;
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:0007744|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>3.0.co;2-x;
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 in
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;
-!- 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 variants
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=Extended N-terminus.; 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]
PDB; 5J03; X-ray; 2.00 A; A=354-409.
PDBsum; 5J03; -.
SMR; O43525; -.
BioGRID; 109987; 2.
CORUM; O43525; -.
STRING; 9606.ENSP00000373648; -.
BindingDB; O43525; -.
ChEMBL; CHEMBL2684; -.
DrugBank; DB00321; Amitriptyline.
DrugBank; DB00586; Diclofenac.
DrugBank; DB00228; Enflurane.
DrugBank; DB04953; Ezogabine.
DrugBank; DB00996; Gabapentin.
DrugBank; DB06089; ICA-105665.
DrugBank; DB00939; Meclofenamic acid.
DrugBank; DB01110; Miconazole.
DrugBank; DB01069; Promethazine.
DrugCentral; O43525; -.
GuidetoPHARMACOLOGY; 562; -.
TCDB; 1.A.1.15.3; the voltage-gated ion channel (vic) superfamily.
GlyGen; O43525; 1 site, 1 O-linked glycan (1 site).
iPTMnet; O43525; -.
PhosphoSitePlus; O43525; -.
BioMuta; KCNQ3; -.
jPOST; O43525; -.
MassIVE; O43525; -.
PaxDb; O43525; -.
PeptideAtlas; O43525; -.
PRIDE; O43525; -.
ProteomicsDB; 17526; -.
ProteomicsDB; 49030; -. [O43525-1]
Antibodypedia; 14124; 157 antibodies.
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; -.
GeneCards; KCNQ3; -.
GeneReviews; KCNQ3; -.
HGNC; HGNC:6297; KCNQ3.
HPA; ENSG00000184156; Tissue enriched (brain).
MalaCards; KCNQ3; -.
MIM; 121201; phenotype.
MIM; 602232; gene.
neXtProt; NX_O43525; -.
OpenTargets; ENSG00000184156; -.
Orphanet; 306; Benign familial infantile epilepsy.
Orphanet; 1949; Benign familial neonatal epilepsy.
Orphanet; 307; Juvenile myoclonic epilepsy.
PharmGKB; PA30075; -.
VEuPathDB; HostDB:ENSG00000184156; -.
eggNOG; KOG1419; Eukaryota.
GeneTree; ENSGT00940000159760; -.
InParanoid; O43525; -.
OMA; QDRDDYM; -.
OrthoDB; 1168835at2759; -.
PhylomeDB; O43525; -.
TreeFam; TF315186; -.
PathwayCommons; O43525; -.
Reactome; R-HSA-1296072; Voltage gated Potassium channels.
Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
SIGNOR; O43525; -.
BioGRID-ORCS; 3786; 3 hits in 1005 CRISPR screens.
ChiTaRS; KCNQ3; human.
GeneWiki; KvLQT3; -.
GenomeRNAi; 3786; -.
Pharos; O43525; Tclin.
PRO; PR:O43525; -.
Proteomes; UP000005640; Chromosome 8.
RNAct; O43525; protein.
Bgee; ENSG00000184156; Expressed in subventricular zone (outer) (primate) and 152 other tissues.
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:0045202; C:synapse; IEA:GOC.
GO; GO:0008076; C:voltage-gated potassium channel complex; IDA:UniProtKB.
GO; GO:0005516; F:calmodulin binding; IDA:UniProtKB.
GO; GO:0005251; F:delayed rectifier potassium channel activity; IBA:GO_Central.
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; PR01462; KCNQ3CHANNEL.
PRINTS; PR01459; KCNQCHANNEL.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell membrane; Disease variant;
Epilepsy; Ion channel; Ion transport; Membrane; Phosphoprotein; Potassium;
Potassium channel; Potassium transport; Reference proteome; Transmembrane;
Transmembrane helix; Transport; Ubl conjugation; Voltage-gated channel.
CHAIN 1..872
/note="Potassium voltage-gated channel subfamily KQT member
3"
/id="PRO_0000054034"
TOPO_DOM 1..121
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 122..142
/note="Helical; Name=Segment S1"
/evidence="ECO:0000255"
TOPO_DOM 143..152
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 153..173
/note="Helical; Name=Segment S2"
/evidence="ECO:0000255"
TOPO_DOM 174..196
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 197..217
/note="Helical; Name=Segment S3"
/evidence="ECO:0000255"
TOPO_DOM 218..225
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 226..247
/note="Helical; Voltage-sensor; Name=Segment S4"
/evidence="ECO:0000255"
TOPO_DOM 248..261
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 262..282
/note="Helical; Name=Segment S5"
/evidence="ECO:0000255"
TOPO_DOM 283..303
/note="Extracellular"
/evidence="ECO:0000255"
INTRAMEM 304..324
/note="Pore-forming; Name=Segment H5"
/evidence="ECO:0000255"
TOPO_DOM 325..330
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 331..351
/note="Helical; Name=Segment S6"
/evidence="ECO:0000255"
TOPO_DOM 352..872
/note="Cytoplasmic"
/evidence="ECO:0000255"
REGION 1..43
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
REGION 356..537
/note="Mediates interaction with calmodulin"
/evidence="ECO:0000269|PubMed:27564677"
REGION 575..611
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
REGION 764..872
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
MOTIF 316..321
/note="Selectivity filter"
/evidence="ECO:0000250"
COMPBIAS 579..611
/note="Polar residues"
/evidence="ECO:0000256|SAM:MobiDB-lite"
COMPBIAS 841..872
/note="Polar residues"
/evidence="ECO:0000256|SAM:MobiDB-lite"
MOD_RES 81
/note="Phosphothreonine"
/evidence="ECO:0000250|UniProtKB:O88944"
MOD_RES 246
/note="Phosphothreonine"
/evidence="ECO:0000269|PubMed:16319223"
VAR_SEQ 1..9
/note="MGLKARRAA -> MKPAEHATM (in isoform 2)"
/evidence="ECO:0000303|PubMed:14702039"
/id="VSP_044906"
VAR_SEQ 10..129
/note="Missing (in isoform 2)"
/evidence="ECO:0000303|PubMed:14702039"
/id="VSP_044907"
VARIANT 305
/note="D -> G (in BFNS2; reduces the maximal heteromeric
current by 40% with no alteration in voltage dependence of
activation or deactivation kinetics; dbSNP:rs118192248)"
/evidence="ECO:0000269|PubMed:14534157"
/id="VAR_026994"
VARIANT 309
/note="W -> R (in BFNS2; dbSNP:rs118192249)"
/evidence="ECO:0000269|PubMed:10852552"
/id="VAR_010935"
VARIANT 310
/note="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)"
/evidence="ECO:0000269|PubMed:14534157,
ECO:0000269|PubMed:9425900, ECO:0000269|PubMed:9872318"
/id="VAR_001546"
VARIANT 340
/note="G -> V (in BFNS2; unknown pathological
significance)"
/evidence="ECO:0000269|PubMed:25982755"
/id="VAR_078681"
VARIANT 414
/note="E -> G (in dbSNP:rs2303995)"
/id="VAR_053859"
VARIANT 468
/note="N -> S (has no statistically significant effect on
the current or biophysical properties of the heteromeric
channel; dbSNP:rs118192252)"
/evidence="ECO:0000269|PubMed:14534157"
/id="VAR_026995"
VARIANT 574
/note="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)"
/evidence="ECO:0000269|PubMed:22612257"
/id="VAR_072741"
VARIANT 780
/note="R -> C (found in patients with benign familial
infantile seizures; unknown pathological significance;
dbSNP:rs138852641)"
/evidence="ECO:0000269|PubMed:23360469"
/id="VAR_078682"
MUTAGEN 246
/note="T->A: No effect on current or expression."
/evidence="ECO:0000269|PubMed:16319223"
MUTAGEN 246
/note="T->D: Abolishes currents without reducing channel
protein expression."
/evidence="ECO:0000269|PubMed:16319223"
MUTAGEN 318
/note="G->S: >50% Reduction of wt heteromeric current;
ratio of 1:1 and 1:1:2."
/evidence="ECO:0000269|PubMed:9872318"
CONFLICT 62
/note="D -> N (in Ref. 5; AAI28577)"
/evidence="ECO:0000305"
CONFLICT 233
/note="Q -> L (in Ref. 3; BAG58996)"
/evidence="ECO:0000305"
HELIX 373..386
/evidence="ECO:0007829|PDB:5J03"
HELIX 397..403
/evidence="ECO:0007829|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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WP1693: Purine metabolism
WP2292: Chemokine signaling pathway
WP1718: Vitamin B6 metabolism
WP1634: Butanoate metabolism
WP1663: Homologous recombination
WP1680: Oxidative phosphorylation
WP2272: Pathogenic Escherichia coli infection
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WP1618: alpha-Linolenic acid metabolism
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Related Genes :
[KCNQ3] Potassium voltage-gated channel subfamily KQT member 3 (KQT-like 3) (Potassium channel subunit alpha KvLQT3) (Voltage-gated potassium channel subunit Kv7.3)
[Kcnq3] Potassium voltage-gated channel subfamily KQT member 3 (KQT-like 3) (Potassium channel subunit alpha KvLQT3) (Voltage-gated potassium channel subunit Kv7.3)
[Kcnq3] Potassium voltage-gated channel subfamily KQT member 3 (KQT-like 3) (Potassium channel subunit alpha KvLQT3) (Voltage-gated potassium channel subunit Kv7.3)
[KCNQ1 KCNA8 KCNA9 KVLQT1] Potassium voltage-gated channel subfamily KQT member 1 (IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1) (KQT-like 1) (Voltage-gated potassium channel subunit Kv7.1)
[KCNQ2] Potassium voltage-gated channel subfamily KQT member 2 (KQT-like 2) (Neuroblastoma-specific potassium channel subunit alpha KvLQT2) (Voltage-gated potassium channel subunit Kv7.2)
[KCNQ5] Potassium voltage-gated channel subfamily KQT member 5 (KQT-like 5) (Potassium channel subunit alpha KvLQT5) (Voltage-gated potassium channel subunit Kv7.5)
[KCNQ4] Potassium voltage-gated channel subfamily KQT member 4 (KQT-like 4) (Potassium channel subunit alpha KvLQT4) (Voltage-gated potassium channel subunit Kv7.4)
[Kcnq2] Potassium voltage-gated channel subfamily KQT member 2 (KQT-like 2) (Potassium channel subunit alpha KvLQT2) (Voltage-gated potassium channel subunit Kv7.2)
[KCNQ3] Potassium voltage-gated channel subfamily KQT member 3 (KQT-like 3) (Potassium channel subunit alpha KvLQT3) (Voltage-gated potassium channel subunit Kv7.3)
[KCNE1] Potassium voltage-gated channel subfamily E member 1 (Delayed rectifier potassium channel subunit IsK) (IKs producing slow voltage-gated potassium channel subunit beta Mink) (Minimal potassium channel)
[Kcnc2] Potassium voltage-gated channel subfamily C member 2 (Potassium channel voltage-gated Shaw-related subfamily C member 2) (Shaw-like potassium channel) (Voltage-gated potassium channel subunit Kv3.2)
[Kcna3] Potassium voltage-gated channel subfamily A member 3 (RCK3) (RGK5) (Voltage-gated potassium channel subunit Kv1.3) (Voltage-gated potassium channel subunit Kv3)
[Kcnc1] Potassium voltage-gated channel subfamily C member 1 (NGK2) (RAW2) (Voltage-gated potassium channel subunit Kv3.1) (Voltage-gated potassium channel subunit Kv4)
[KCNC1] Potassium voltage-gated channel subfamily C member 1 (NGK2) (Voltage-gated potassium channel subunit Kv3.1) (Voltage-gated potassium channel subunit Kv4)
[Kcnc1] Potassium voltage-gated channel subfamily C member 1 (NGK2) (Voltage-gated potassium channel subunit Kv3.1) (Voltage-gated potassium channel subunit Kv4)
[KCNA3 HGK5] Potassium voltage-gated channel subfamily A member 3 (HGK5) (HLK3) (HPCN3) (Voltage-gated K(+) channel HuKIII) (Voltage-gated potassium channel subunit Kv1.3)
[KCNH3 KIAA1282] Potassium voltage-gated channel subfamily H member 3 (Brain-specific eag-like channel 1) (BEC1) (Ether-a-go-go-like potassium channel 2) (ELK channel 2) (ELK2) (Voltage-gated potassium channel subunit Kv12.2)
[Kcnh7 Erg3] Potassium voltage-gated channel subfamily H member 7 (Ether-a-go-go-related gene potassium channel 3) (ERG-3) (Eag-related protein 3) (Ether-a-go-go-related protein 3) (Voltage-gated potassium channel subunit Kv11.3)
[KCNG3] Potassium voltage-gated channel subfamily G member 3 (Voltage-gated potassium channel subunit Kv10.1) (Voltage-gated potassium channel subunit Kv6.3)
[KCNE2] Potassium voltage-gated channel subfamily E member 2 (MinK-related peptide 1) (Minimum potassium ion channel-related peptide 1) (Potassium channel subunit beta MiRP1)
[KCND3] Potassium voltage-gated channel subfamily D member 3 (Voltage-gated potassium channel subunit Kv4.3)
[KCNH8] Potassium voltage-gated channel subfamily H member 8 (ELK1) (hElk1) (Ether-a-go-go-like potassium channel 3) (ELK channel 3) (ELK3) (Voltage-gated potassium channel subunit Kv12.1)
[KCNA4 KCNA4L] Potassium voltage-gated channel subfamily A member 4 (HPCN2) (Voltage-gated K(+) channel HuKII) (Voltage-gated potassium channel HBK4) (Voltage-gated potassium channel HK1) (Voltage-gated potassium channel subunit Kv1.4)
[Kcnc3] Potassium voltage-gated channel subfamily C member 3 (KSHIIID) (Voltage-gated potassium channel subunit Kv3.3)
[KCNC3] Potassium voltage-gated channel subfamily C member 3 (KSHIIID) (Voltage-gated potassium channel subunit Kv3.3)
[Kcnd3] Potassium voltage-gated channel subfamily D member 3 (Voltage-gated potassium channel subunit Kv4.3)
[Kcnd3] Potassium voltage-gated channel subfamily D member 3 (Voltage-gated potassium channel subunit Kv4.3)
[KCNA2] Potassium voltage-gated channel subfamily A member 2 (NGK1) (Voltage-gated K(+) channel HuKIV) (Voltage-gated potassium channel HBK5) (Voltage-gated potassium channel subunit Kv1.2)
[KCNA1] Potassium voltage-gated channel subfamily A member 1 (Voltage-gated K(+) channel HuKI) (Voltage-gated potassium channel HBK1) (Voltage-gated potassium channel subunit Kv1.1)
[Kcnc4] Potassium voltage-gated channel subfamily C member 4 (Raw3) (Voltage-gated potassium channel subunit Kv3.4)

Bibliography :