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O43525

- KCNQ3_HUMAN

UniProt

O43525 - KCNQ3_HUMAN

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
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 2 (15 Jul 1999)
      Previous versions | rss
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    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

    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

    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

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 2 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 3PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei304 – 32421Pore-forming; Name=Segment H5Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei122 – 14221Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei153 – 17321Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei197 – 21721Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei226 – 24722Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei262 – 28221Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei331 – 35121Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

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

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi13 – 2412Poly-GlyAdd
    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti62 – 621D → N in AAI28577. (PubMed:15489334)Curated
    Sequence conflicti233 – 2331Q → L in BAG58996. (PubMed:14702039)Curated

    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. 2 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. 1 PublicationVSP_044906
    Alternative sequencei8 – 3326Missing in isoform 3. 1 PublicationVSP_055338Add
    BLAST
    Alternative sequencei10 – 129120Missing in isoform 2. 1 PublicationVSP_044907Add
    BLAST
    Alternative sequencei589 – 60012Missing in isoform 3. 1 PublicationVSP_055339Add
    BLAST

    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

    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: October 1, 2014
    This is version 144 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