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P97414

- KCNQ1_MOUSE

UniProt

P97414 - KCNQ1_MOUSE

Protein

Potassium voltage-gated channel subfamily KQT member 1

Gene

Kcnq1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 3 (27 Jul 2011)
      Previous versions | rss
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    Functioni

    Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiac potassium current. Elicits a rapidly activating, potassium-selective outward current.

    GO - Molecular functioni

    1. delayed rectifier potassium channel activity Source: RefGenome
    2. outward rectifier potassium channel activity Source: Ensembl
    3. voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization Source: Ensembl
    4. voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization Source: Ensembl

    GO - Biological processi

    1. cardiac muscle contraction Source: Ensembl
    2. cardiovascular system development Source: MGI
    3. cellular response to cAMP Source: Ensembl
    4. cellular response to drug Source: Ensembl
    5. gene silencing Source: MGI
    6. male gonad development Source: Ensembl
    7. negative regulation of insulin secretion Source: Ensembl
    8. positive regulation of gastric acid secretion Source: Ensembl
    9. positive regulation of potassium ion transmembrane transport Source: Ensembl
    10. potassium ion export Source: Ensembl
    11. regulation of atrial cardiac muscle cell membrane repolarization Source: Ensembl
    12. regulation of gene expression by genetic imprinting Source: MGI
    13. regulation of heart rate by cardiac conduction Source: Ensembl
    14. regulation of ventricular cardiac muscle cell membrane repolarization Source: Ensembl

    Keywords - Molecular functioni

    Ion channel, Potassium channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Potassium transport, Transport

    Keywords - Ligandi

    Calmodulin-binding, Potassium

    Enzyme and pathway databases

    ReactomeiREACT_199077. Voltage gated Potassium channels.

    Protein family/group databases

    TCDBi1.A.1.15.1. the voltage-gated ion channel (vic) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Potassium voltage-gated channel subfamily KQT member 1
    Alternative name(s):
    IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1
    KQT-like 1
    Voltage-gated potassium channel subunit Kv7.1
    Gene namesi
    Name:Kcnq1
    Synonyms:Kcna9, Kvlqt1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 7

    Organism-specific databases

    MGIiMGI:108083. Kcnq1.

    Subcellular locationi

    GO - Cellular componenti

    1. basolateral plasma membrane Source: Ensembl
    2. early endosome Source: Ensembl
    3. late endosome Source: Ensembl
    4. lysosome Source: Ensembl
    5. sarcolemma Source: Ensembl
    6. voltage-gated potassium channel complex Source: Ensembl
    7. zymogen granule membrane Source: Ensembl

    Keywords - Cellular componenti

    Cell membrane, Cytoplasmic vesicle, Membrane

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 668668Potassium voltage-gated channel subfamily KQT member 1PRO_0000054024Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi288 – 2881N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP97414.
    PRIDEiP97414.

    PTM databases

    PhosphoSiteiP97414.

    Expressioni

    Tissue specificityi

    Expressed in heart, kidney and salivary glands. Detected in the cochlea. Almost undetectable in brain, skeletal muscle and liver. Widely expressed in embryonic and neonatal tissues.1 Publication

    Gene expression databases

    ArrayExpressiP97414.
    BgeeiP97414.
    GenevestigatoriP97414.

    Interactioni

    Subunit structurei

    Heterotetramer with KCNE1 (MinK) or KCNE3 (MiRP2). Interacts with CALM By similarity.By similarity

    Protein-protein interaction databases

    STRINGi10090.ENSMUSP00000009689.

    Structurei

    3D structure databases

    ProteinModelPortaliP97414.
    SMRiP97414. Positions 122-377, 584-610.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini142 – 1465ExtracellularSequence Analysis
    Topological domaini168 – 19528CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini217 – 2248ExtracellularSequence Analysis
    Topological domaini248 – 26013CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini282 – 29817ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini320 – 33011ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini352 – 668317CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei299 – 31921Pore-forming; Name=Segment H5Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei121 – 14121Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei147 – 16721Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei196 – 21621Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei225 – 24723Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei261 – 28121Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei331 – 35121Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili584 – 62037By similarityAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi311 – 3166Selectivity filterBy similarity

    Domaini

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

    Sequence similaritiesi

    Keywords - Domaini

    Coiled coil, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1226.
    GeneTreeiENSGT00550000074513.
    HOGENOMiHOG000220839.
    HOVERGENiHBG059014.
    InParanoidiQ3U4H1.
    KOiK04926.
    OMAiEHHRAAI.
    OrthoDBiEOG73804Z.
    TreeFamiTF315186.

    Family and domain databases

    InterProiIPR005821. Ion_trans_dom.
    IPR003091. K_chnl.
    IPR003937. K_chnl_volt-dep_KCNQ.
    IPR013821. K_chnl_volt-dep_KCNQ_C.
    IPR005827. K_chnl_volt-dep_KCQN1.
    IPR028325. VG_K_chnl.
    [Graphical view]
    PANTHERiPTHR11537. PTHR11537. 1 hit.
    PTHR11537:SF109. PTHR11537:SF109. 1 hit.
    PfamiPF00520. Ion_trans. 1 hit.
    PF03520. KCNQ_channel. 1 hit.
    [Graphical view]
    PRINTSiPR00169. KCHANNEL.
    PR01460. KCNQ1CHANNEL.
    PR01459. KCNQCHANNEL.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform I (identifier: P97414-1) [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

    MDTASSPPSA ERKRAGWSRL LGARRGSAVV KKCPFSLELA EGGPEGSTVY    50
    APIAPTGAPG LAPPMSTPVS PAPAPADLGP RPRVSLDPRV SIYSARRPLL 100
    ARTHIQGRVY NFLERPTGWK CFVYHFTVFL IVLVCLIFSV LSTIEQYAAL 150
    ATGTLFWMEI VLVVFFGTEY VVRLWSAGCR SKYVGIWGRL RFARKPISII 200
    DLIVVVASMV VLCVGSKGQV FATSAIRGIR FLQILRMLHV DRQGGTWRLL 250
    GSVVFIHRQE LITTLYIGFL GLIFSSYFVY LAEKDAVNES GRIEFGSYAD 300
    ALWWGVVTVT TIGYGDKVPQ TWVGKTIASC FSVFAISFFA LPAGILGSGF 350
    ALKVQQKQRQ KHFNRQIPAA ASLIQTAWRC YAAENPDSAT WKIYVRKPAR 400
    SHTLLSPSPK PKKSVMVKKK KFKLDKDNGM SPGEKMFNVP HITYDPPEDR 450
    RPDHFSIDGY DSSVRKSPTL LEVSTPHFLR TNSFAEDLDL EGETLLTPIT 500
    HVSQLRDHHR ATIKVIRRMQ YFVAKKKFQQ ARKPYDVRDV IEQYSQGHLN 550
    LMVRIKELQR RLDQSIGKPS LFIPISEKSK DRGSNTIGAR LNRVEDKVTQ 600
    LDQRLVIITD MLHQLLSMQQ GGPTCNSRSQ VVASNEGGSI NPELFLPSNS 650
    LPTYEQLTVP QTGPDEGS 668
    Length:668
    Mass (Da):74,514
    Last modified:July 27, 2011 - v3
    Checksum:i8CE35CBA3102B85B
    GO
    Isoform II (identifier: P97414-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-111: Missing.
         112-128: FLERPTGWKCFVYHFTV → MHQLPTSILIPKNMPGG

    Show »
    Length:557
    Mass (Da):62,640
    Checksum:i56D3B3EF5F8D0FA0
    GO

    Sequence cautioni

    The sequence AAB36518.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti473 – 4731V → L in AAP93874. (PubMed:15004216)Curated
    Sequence conflicti473 – 4731V → L in AAB36518. (PubMed:8900282)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 111111Missing in isoform II. CuratedVSP_011748Add
    BLAST
    Alternative sequencei112 – 12817FLERP…YHFTV → MHQLPTSILIPKNMPGG in isoform II. CuratedVSP_000983Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY331142 mRNA. Translation: AAP93874.1.
    AK154244 mRNA. Translation: BAE32460.1.
    BC045142 mRNA. Translation: AAH45142.2.
    BC055304 mRNA. Translation: AAH55304.1.
    U70068 mRNA. Translation: AAB36518.1. Different initiation.
    AJ002201 mRNA. Translation: CAA05246.1.
    CCDSiCCDS22039.1. [P97414-1]
    RefSeqiNP_032460.2. NM_008434.2. [P97414-1]
    UniGeneiMm.439769.
    Mm.453036.
    Mm.453037.

    Genome annotation databases

    EnsembliENSMUST00000009689; ENSMUSP00000009689; ENSMUSG00000009545. [P97414-1]
    GeneIDi16535.
    KEGGimmu:16535.
    UCSCiuc009kpb.1. mouse. [P97414-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY331142 mRNA. Translation: AAP93874.1 .
    AK154244 mRNA. Translation: BAE32460.1 .
    BC045142 mRNA. Translation: AAH45142.2 .
    BC055304 mRNA. Translation: AAH55304.1 .
    U70068 mRNA. Translation: AAB36518.1 . Different initiation.
    AJ002201 mRNA. Translation: CAA05246.1 .
    CCDSi CCDS22039.1. [P97414-1 ]
    RefSeqi NP_032460.2. NM_008434.2. [P97414-1 ]
    UniGenei Mm.439769.
    Mm.453036.
    Mm.453037.

    3D structure databases

    ProteinModelPortali P97414.
    SMRi P97414. Positions 122-377, 584-610.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 10090.ENSMUSP00000009689.

    Chemistry

    GuidetoPHARMACOLOGYi 560.

    Protein family/group databases

    TCDBi 1.A.1.15.1. the voltage-gated ion channel (vic) superfamily.

    PTM databases

    PhosphoSitei P97414.

    Proteomic databases

    PaxDbi P97414.
    PRIDEi P97414.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000009689 ; ENSMUSP00000009689 ; ENSMUSG00000009545 . [P97414-1 ]
    GeneIDi 16535.
    KEGGi mmu:16535.
    UCSCi uc009kpb.1. mouse. [P97414-1 ]

    Organism-specific databases

    CTDi 3784.
    MGIi MGI:108083. Kcnq1.

    Phylogenomic databases

    eggNOGi COG1226.
    GeneTreei ENSGT00550000074513.
    HOGENOMi HOG000220839.
    HOVERGENi HBG059014.
    InParanoidi Q3U4H1.
    KOi K04926.
    OMAi EHHRAAI.
    OrthoDBi EOG73804Z.
    TreeFami TF315186.

    Enzyme and pathway databases

    Reactomei REACT_199077. Voltage gated Potassium channels.

    Miscellaneous databases

    NextBioi 289961.
    PROi P97414.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P97414.
    Bgeei P97414.
    Genevestigatori P97414.

    Family and domain databases

    InterProi IPR005821. Ion_trans_dom.
    IPR003091. K_chnl.
    IPR003937. K_chnl_volt-dep_KCNQ.
    IPR013821. K_chnl_volt-dep_KCNQ_C.
    IPR005827. K_chnl_volt-dep_KCQN1.
    IPR028325. VG_K_chnl.
    [Graphical view ]
    PANTHERi PTHR11537. PTHR11537. 1 hit.
    PTHR11537:SF109. PTHR11537:SF109. 1 hit.
    Pfami PF00520. Ion_trans. 1 hit.
    PF03520. KCNQ_channel. 1 hit.
    [Graphical view ]
    PRINTSi PR00169. KCHANNEL.
    PR01460. KCNQ1CHANNEL.
    PR01459. KCNQCHANNEL.
    ProtoNeti Search...

    Publicationsi

    1. "Isoproterenol exacerbates a long QT phenotype in Kcnq1-deficient neonatal mice: possible roles for human-like Kcnq1 isoform 1 and slow delayed rectifier K+ current."
      Knollmann B.C., Casimiro M.C., Katchman A.N., Sirenko S.G., Schober T., Rong Q., Pfeifer K., Ebert S.N.
      J. Pharmacol. Exp. Ther. 310:311-318(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM I).
      Strain: 129/SvJ.
      Tissue: Heart.
    2. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM I).
      Strain: NOD.
    3. "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 I).
      Strain: FVB/N.
      Tissue: Colon and Olfactory epithelium.
    4. "K(V)LQT1 and IsK (minK) proteins associate to form the I(Ks) cardiac potassium current."
      Barhanin J., Lesage F., Guillemare E., Fink M., Lazdunski M., Romey G.
      Nature 384:78-80(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 31-668 (ISOFORM I).
      Tissue: Heart.
    5. "Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5."
      Paulsen M., Davies K.R., Bowden L.M., Villar A.J., Franck O., Fuermann M., Dean W.L., Moore T.F., Rodrigues N., Davies K.E., Hu R.-J., Feinberg A.P., Maher E.R., Reik W., Walter J.
      Hum. Mol. Genet. 7:1149-1159(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: PARTIAL NUCLEOTIDE SEQUENCE (ISOFORM II), TISSUE SPECIFICITY.
      Strain: C57BL/6.

    Entry informationi

    Entry nameiKCNQ1_MOUSE
    AccessioniPrimary (citable) accession number: P97414
    Secondary accession number(s): O88702
    , Q3U4H1, Q7TNZ1, Q7TPL7, Q80VR7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: July 27, 2011
    Last modified: October 1, 2014
    This is version 135 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3