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O43525

- KCNQ3_HUMAN

UniProt

O43525 - KCNQ3_HUMAN

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Protein
Potassium voltage-gated channel subfamily KQT member 3
Gene
KCNQ3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Probably important in the regulation of neuronal excitability. 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.

GO - Molecular functioni

  1. delayed rectifier potassium channel activity Source: RefGenome
  2. potassium channel activity Source: ProtInc
  3. voltage-gated potassium channel activity Source: ProtInc

GO - Biological processi

  1. axon guidance Source: Reactome
  2. membrane hyperpolarization Source: Ensembl
  3. potassium ion transport Source: ProtInc
  4. synaptic transmission Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

ReactomeiREACT_22266. Interaction between L1 and Ankyrins.
REACT_75770. Voltage gated Potassium channels.

Protein family/group databases

TCDBi1.A.1.15.3. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily KQT member 3
Alternative name(s):
KQT-like 3
Potassium channel subunit alpha KvLQT3
Voltage-gated potassium channel subunit Kv7.3
Gene namesi
Name:KCNQ3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:6297. KCNQ3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei122 – 14221Helical; Name=Segment S1; Reviewed prediction
Add
BLAST
Transmembranei153 – 17321Helical; Name=Segment S2; Reviewed prediction
Add
BLAST
Transmembranei197 – 21721Helical; Name=Segment S3; Reviewed prediction
Add
BLAST
Transmembranei226 – 24722Helical; Voltage-sensor; Name=Segment S4; Reviewed prediction
Add
BLAST
Transmembranei262 – 28221Helical; Name=Segment S5; Reviewed prediction
Add
BLAST
Intramembranei304 – 32421Pore-forming; Name=Segment H5; Reviewed prediction
Add
BLAST
Transmembranei331 – 35121Helical; Name=Segment S6; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. axon initial segment Source: BHF-UCL
  2. node of Ranvier Source: BHF-UCL
  3. plasma membrane Source: BHF-UCL
  4. voltage-gated potassium channel complex Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti305 – 3051D → G in BFNS2; reduces the maximal heteromeric current by approx. 40% with no alteration in voltage dependence of activation or deactivation kinetics. 1 Publication
VAR_026994
Natural varianti309 – 3091W → R in BFNS2. 1 Publication
VAR_010935
Natural varianti310 – 3101G → V in BFNS2; about 50% reduction of wild-type heteromeric current; ratio of 1:1; or 20%; ratio of 1:1:2. 3 Publications
VAR_001546

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi246 – 2461T → A: No effect on current or expression. 1 Publication
Mutagenesisi246 – 2461T → D: Abolishes currents without reducing channel protein expression. 1 Publication
Mutagenesisi318 – 3181G → S: >50% Reduction of wt heteromeric current; ratio of 1:1 and 1:1:2. 1 Publication

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi121201. phenotype.
Orphaneti306. Benign familial infantile seizures.
1949. Benign familial neonatal seizures.
307. Juvenile myoclonic epilepsy.
PharmGKBiPA30075.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 872872Potassium voltage-gated channel subfamily KQT member 3
PRO_0000054034Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei246 – 2461Phosphothreonine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO43525.
PRIDEiO43525.

PTM databases

PhosphoSiteiO43525.

Expressioni

Tissue specificityi

Predominantly expressed in brain.

Gene expression databases

ArrayExpressiO43525.
BgeeiO43525.
CleanExiHS_KCNQ3.
GenevestigatoriO43525.

Organism-specific databases

HPAiHPA035212.

Interactioni

Subunit structurei

Heteromultimer with KCNQ2 or KCNQ5. May associate with KCNE2.

Protein-protein interaction databases

BioGridi109987. 2 interactions.
STRINGi9606.ENSP00000373648.

Structurei

3D structure databases

ProteinModelPortaliO43525.
SMRiO43525. Positions 99-353.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi316 – 3216Selectivity filter By similarity

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi13 – 2412Poly-Gly
Add
BLAST

Domaini

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position By similarity.

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1226.
HOGENOMiHOG000220839.
HOVERGENiHBG059014.
InParanoidiO43525.
KOiK04928.
OMAiFFAHDPV.
OrthoDBiEOG73804Z.
PhylomeDBiO43525.
TreeFamiTF315186.

Family and domain databases

InterProiIPR020969. Ankyrin-G_BS.
IPR005821. Ion_trans_dom.
IPR003091. K_chnl.
IPR003937. K_chnl_volt-dep_KCNQ.
IPR003948. K_chnl_volt-dep_KCNQ3.
IPR013821. K_chnl_volt-dep_KCNQ_C.
IPR028325. VG_K_chnl.
[Graphical view]
PANTHERiPTHR11537. PTHR11537. 1 hit.
PTHR11537:SF5. PTHR11537:SF5. 1 hit.
PfamiPF00520. Ion_trans. 1 hit.
PF03520. KCNQ_channel. 1 hit.
PF11956. KCNQC3-Ank-G_bd. 1 hit.
[Graphical view]
PRINTSiPR00169. KCHANNEL.
PR01462. KCNQ3CHANNEL.
PR01459. KCNQCHANNEL.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O43525-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MGLKARRAAG AAGGGGDGGG GGGGAANPAG GDAAAAGDEE RKVGLAPGDV    50
EQVTLALGAG ADKDGTLLLE GGGRDEGQRR TPQGIGLLAK TPLSRPVKRN 100
NAKYRRIQTL IYDALERPRG WALLYHALVF LIVLGCLILA VLTTFKEYET 150
VSGDWLLLLE TFAIFIFGAE FALRIWAAGC CCRYKGWRGR LKFARKPLCM 200
LDIFVLIASV PVVAVGNQGN VLATSLRSLR FLQILRMLRM DRRGGTWKLL 250
GSAICAHSKE LITAWYIGFL TLILSSFLVY LVEKDVPEVD AQGEEMKEEF 300
ETYADALWWG LITLATIGYG DKTPKTWEGR LIAATFSLIG VSFFALPAGI 350
LGSGLALKVQ EQHRQKHFEK RRKPAAELIQ AAWRYYATNP NRIDLVATWR 400
FYESVVSFPF FRKEQLEAAS SQKLGLLDRV RLSNPRGSNT KGKLFTPLNV 450
DAIEESPSKE PKPVGLNNKE RFRTAFRMKA YAFWQSSEDA GTGDPMAEDR 500
GYGNDFPIED MIPTLKAAIR AVRILQFRLY KKKFKETLRP YDVKDVIEQY 550
SAGHLDMLSR IKYLQTRIDM IFTPGPPSTP KHKKSQKGSA FTFPSQQSPR 600
NEPYVARPST SEIEDQSMMG KFVKVERQVQ DMGKKLDFLV DMHMQHMERL 650
QVQVTEYYPT KGTSSPAEAE KKEDNRYSDL KTIICNYSET GPPEPPYSFH 700
QVTIDKVSPY GFFAHDPVNL PRGGPSSGKV QATPPSSATT YVERPTVLPI 750
LTLLDSRVSC HSQADLQGPY SDRISPRQRR SITRDSDTPL SLMSVNHEEL 800
ERSPSGFSIS QDRDDYVFGP NGGSSWMREK RYLAEGETDT DTDPFTPSGS 850
MPLSSTGDGI SDSVWTPSNK PI 872
Length:872
Mass (Da):96,742
Last modified:July 15, 1999 - v2
Checksum:iBB79C69EE8591A84
GO
Isoform 2 (identifier: O43525-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MGLKARRAA → MKPAEHATM
     10-129: Missing.

Note: No experimental confirmation available.

Show »
Length:752
Mass (Da):84,804
Checksum:iBC8C18D5BE17F0DB
GO
Isoform 3 (identifier: O43525-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     8-33: Missing.
     589-600: Missing.

Note: No experimental confirmation available.

Show »
Length:834
Mass (Da):93,599
Checksum:i7E169CE4FBFD3CFE
GO

Sequence cautioni

The sequence AAI28577.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti305 – 3051D → G in BFNS2; reduces the maximal heteromeric current by approx. 40% with no alteration in voltage dependence of activation or deactivation kinetics. 1 Publication
VAR_026994
Natural varianti309 – 3091W → R in BFNS2. 1 Publication
VAR_010935
Natural varianti310 – 3101G → V in BFNS2; about 50% reduction of wild-type heteromeric current; ratio of 1:1; or 20%; ratio of 1:1:2. 3 Publications
VAR_001546
Natural varianti414 – 4141E → G.
Corresponds to variant rs2303995 [ dbSNP | Ensembl ].
VAR_053859
Natural varianti468 – 4681N → S Has no statistically significant effect on the current or biophysical properties of the heteromeric channel. 1 Publication
Corresponds to variant rs118192252 [ dbSNP | Ensembl ].
VAR_026995

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 99MGLKARRAA → MKPAEHATM in isoform 2.
VSP_044906
Alternative sequencei8 – 3326Missing in isoform 3.
VSP_055338Add
BLAST
Alternative sequencei10 – 129120Missing in isoform 2.
VSP_044907Add
BLAST
Alternative sequencei589 – 60012Missing in isoform 3.
VSP_055339Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti62 – 621D → N in AAI28577. 1 Publication
Sequence conflicti233 – 2331Q → L in BAG58996. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF071491
, AF071478, AF071479, AF071480, AF071481, AF071482, AF071483, AF071484, AF071485, AF071486, AF071487, AF071488, AF071489, AF071490 Genomic DNA. Translation: AAC96101.1.
AK296293 mRNA. Translation: BAG58996.1.
AC018540 Genomic DNA. No translation available.
AC123776 Genomic DNA. No translation available.
AC131042 Genomic DNA. No translation available.
AC136373 Genomic DNA. No translation available.
BC128576 mRNA. Translation: AAI28577.1. Different initiation.
AF033347 mRNA. Translation: AAB97314.1.
CCDSiCCDS34943.1. [O43525-1]
CCDS56554.1. [O43525-2]
RefSeqiNP_001191753.1. NM_001204824.1. [O43525-2]
NP_004510.1. NM_004519.3. [O43525-1]
UniGeneiHs.374023.

Genome annotation databases

EnsembliENST00000388996; ENSP00000373648; ENSG00000184156. [O43525-1]
ENST00000521134; ENSP00000429799; ENSG00000184156. [O43525-2]
GeneIDi3786.
KEGGihsa:3786.
UCSCiuc003ytj.3. human. [O43525-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF071491
, AF071478 , AF071479 , AF071480 , AF071481 , AF071482 , AF071483 , AF071484 , AF071485 , AF071486 , AF071487 , AF071488 , AF071489 , AF071490 Genomic DNA. Translation: AAC96101.1 .
AK296293 mRNA. Translation: BAG58996.1 .
AC018540 Genomic DNA. No translation available.
AC123776 Genomic DNA. No translation available.
AC131042 Genomic DNA. No translation available.
AC136373 Genomic DNA. No translation available.
BC128576 mRNA. Translation: AAI28577.1 . Different initiation.
AF033347 mRNA. Translation: AAB97314.1 .
CCDSi CCDS34943.1. [O43525-1 ]
CCDS56554.1. [O43525-2 ]
RefSeqi NP_001191753.1. NM_001204824.1. [O43525-2 ]
NP_004510.1. NM_004519.3. [O43525-1 ]
UniGenei Hs.374023.

3D structure databases

ProteinModelPortali O43525.
SMRi O43525. Positions 99-353.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109987. 2 interactions.
STRINGi 9606.ENSP00000373648.

Chemistry

BindingDBi O43525.
ChEMBLi CHEMBL2221348.
GuidetoPHARMACOLOGYi 562.

Protein family/group databases

TCDBi 1.A.1.15.3. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSitei O43525.

Proteomic databases

PaxDbi O43525.
PRIDEi O43525.

Protocols and materials databases

DNASUi 3786.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000388996 ; ENSP00000373648 ; ENSG00000184156 . [O43525-1 ]
ENST00000521134 ; ENSP00000429799 ; ENSG00000184156 . [O43525-2 ]
GeneIDi 3786.
KEGGi hsa:3786.
UCSCi uc003ytj.3. human. [O43525-1 ]

Organism-specific databases

CTDi 3786.
GeneCardsi GC08M133210.
HGNCi HGNC:6297. KCNQ3.
HPAi HPA035212.
MIMi 121201. phenotype.
602232. gene.
neXtProti NX_O43525.
Orphaneti 306. Benign familial infantile seizures.
1949. Benign familial neonatal seizures.
307. Juvenile myoclonic epilepsy.
PharmGKBi PA30075.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1226.
HOGENOMi HOG000220839.
HOVERGENi HBG059014.
InParanoidi O43525.
KOi K04928.
OMAi FFAHDPV.
OrthoDBi EOG73804Z.
PhylomeDBi O43525.
TreeFami TF315186.

Enzyme and pathway databases

Reactomei REACT_22266. Interaction between L1 and Ankyrins.
REACT_75770. Voltage gated Potassium channels.

Miscellaneous databases

ChiTaRSi KCNQ3. human.
GeneWikii KvLQT3.
GenomeRNAii 3786.
NextBioi 14871.
PROi O43525.
SOURCEi Search...

Gene expression databases

ArrayExpressi O43525.
Bgeei O43525.
CleanExi HS_KCNQ3.
Genevestigatori O43525.

Family and domain databases

InterProi IPR020969. Ankyrin-G_BS.
IPR005821. Ion_trans_dom.
IPR003091. K_chnl.
IPR003937. K_chnl_volt-dep_KCNQ.
IPR003948. K_chnl_volt-dep_KCNQ3.
IPR013821. K_chnl_volt-dep_KCNQ_C.
IPR028325. VG_K_chnl.
[Graphical view ]
PANTHERi PTHR11537. PTHR11537. 1 hit.
PTHR11537:SF5. PTHR11537:SF5. 1 hit.
Pfami PF00520. Ion_trans. 1 hit.
PF03520. KCNQ_channel. 1 hit.
PF11956. KCNQC3-Ank-G_bd. 1 hit.
[Graphical view ]
PRINTSi PR00169. KCHANNEL.
PR01462. KCNQ3CHANNEL.
PR01459. KCNQCHANNEL.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy."
    Schroeder B.C., Kubisch C., Stein V., Jentsch T.J.
    Nature 396:687-690(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], CHARACTERIZATION OF VARIANT BFNS2 VAL-310, MUTAGENESIS OF GLY-318.
    Tissue: Brain.
  2. "Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy."
    Yang W.-P., Levesque P.C., Little W.A., Conder M.L., Ramakrishnan P., Neubauer M.G., Blanar M.A.
    J. Biol. Chem. 273:19419-19423(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHARACTERIZATION.
    Tissue: Brain and Fetal brain.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    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.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Thalamus.
  4. "DNA sequence and analysis of human chromosome 8."
    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.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  6. "A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family."
    Charlier C., Singh N.A., Ryan S.G., Lewis T.B., Reus B.E., Leach R.J., Leppert M.
    Nat. Genet. 18:53-55(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 48-872 (ISOFORM 1), VARIANT BFNS2 VAL-310.
    Tissue: Brain.
  7. "Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell."
    Selyanko A.A., Hadley J.K., Wood I.C., Abogadie F.C., Delmas P., Buckley N.J., London B., Brown D.A.
    J. Neurosci. 19:7742-7756(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN M-LIKE CURRENT.
  8. "M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit."
    Tinel N., Diochot S., Lauritzen I., Barhanin J., Lazdunski M., Borsotto M.
    FEBS Lett. 480:137-141(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: ASSOCIATION WITH KCNE2.
  9. "Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy."
    Schwake M., Pusch M., Kharkovets T., Jentsch T.J.
    J. Biol. Chem. 275:13343-13348(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: SURFACE EXPRESSION OF HETEROMERS.
  10. "Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current."
    Shapiro M.S., Roche J.P., Kaftan E.J., Cruzblanca H., Mackie K., Hille B.
    J. Neurosci. 20:1710-1721(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INHIBITION BY M1 MUSCARINIC RECEPTORS.
  11. "Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors."
    Selyanko A.A., Hadley J.K., Wood I.C., Abogadie F.C., Jentsch T.J., Brown D.A.
    J. Physiol. (Lond.) 522:349-355(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INHIBITION BY M1 MUSCARINIC RECEPTORS.
  12. "Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine."
    Main M.J., Cryan J.E., Dupere J.R., Cox B., Clare J.J., Burbidge S.A.
    Mol. Pharmacol. 58:253-262(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACTIVATION BY RETICABINE.
  13. "Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels."
    Wickenden A.D., Yu W., Zou A., Jegla T., Wagoner P.K.
    Mol. Pharmacol. 58:591-600(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACTIVATION BY RETICABINE.
  14. "The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells transfected with human KCNQ2/3 subunits."
    Rundfeldt C., Netzer R.
    Neurosci. Lett. 282:73-76(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACTIVATION BY RETICABINE.
  15. "Characterization of KCNQ5/Q3 potassium channels expressed in mammalian cells."
    Wickenden A.D., Zou A., Wagoner P.K., Jegla T.
    Br. J. Pharmacol. 132:381-384(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION, ACTIVATION BY RETICABINE.
  16. "Identification by mass spectrometry and functional characterization of two phosphorylation sites of KCNQ2/KCNQ3 channels."
    Surti T.S., Huang L., Jan Y.N., Jan L.Y., Cooper E.C.
    Proc. Natl. Acad. Sci. U.S.A. 102:17828-17833(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT THR-246, MUTAGENESIS OF THR-246.
  17. "A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions."
    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.
    Ann. Neurol. 47:822-826(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BFNS2 ARG-309.
  18. "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum."
    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.
    Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BFNS2 GLY-305 AND VAL-310, CHARACTERIZATION OF VARIANT BFNS2 GLY-305, VARIANT SER-468, CHARACTERIZATION OF VARIANT SER-468.

Entry informationi

Entry nameiKCNQ3_HUMAN
AccessioniPrimary (citable) accession number: O43525
Secondary accession number(s): A2VCT8, B4DJY4, E7EQ89
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 15, 1999
Last modified: September 3, 2014
This is version 143 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Mutagenesis experiments were carried out in Xenopus oocytes by coexpression of either KCNQ3(mut) and KCNQ2 at the ratio of 1:1, or of KCNQ3(mut), KCNQ3(wt) and KCNQ2 at the ratio of 1:1:2, to mimic the situation in a heterozygous patient with BFNC2 disease.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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