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|---|---|
| Accession Number: | P51787 |
| Protein Name: | KCNQ1 |
| Length: | 676 |
| Molecular Weight: | 74699.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 6 |
| Location1 / Topology2 / Orientation3: | Cell membrane1 / Multi-pass membrane protein2 |
| Substrate | potassium(1+) |
Cross database links:
| DIP: | DIP-27591N |
|---|---|
| RefSeq: | NP_000209.2 NP_861463.1 |
| Entrez Gene ID: | 3784 |
| Pfam: | PF00520 PF03520 |
| OMIM: |
192500 phenotype 220400 phenotype 607542 gene 607554 phenotype 609621 phenotype |
| KEGG: | hsa:3784 |
Gene Ontology
GO:0030659
C:cytoplasmic vesicle membrane
GO:0008076
C:voltage-gated potassium channel complex
GO:0005251
F:delayed rectifier potassium channel activity
GO:0005515
F:protein binding
GO:0008015
P:blood circulation
GO:0051899
P:membrane depolarization
GO:0006936
P:muscle contraction
GO:0006813
P:potassium ion transport
GO:0008016
P:regulation of heart contraction
GO:0007605
P:sensory perception of sound
GO:0055085
P:transmembrane transport
| |
References (36)[1] “Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.” Chouabe C.et.al. 9312006 [2] “Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.” Itoh T.et.al. 9799083 [3] “Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.” Neyroud N.et.al. 10024302 [4] “KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias.” Yang W.-P.et.al. 9108097 [5] “Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel.” Sanguinetti M.C.et.al. 8900283 [6] “Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.” Wang Q.et.al. 8528244 [7] “Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart.” Jiang M.et.al. 9305853 [8] “Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.” Shalaby F.Y.et.al. 9323054 [9] “Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors.” Selyanko A.A.et.al. 10713961 [10] “A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly.” Schmitt N.et.al. 10654932 [11] “A constitutively open potassium channel formed by KCNQ1 and KCNE3.” Schroeder B.C.et.al. 10646604 [12] “The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.” Wiener R.et.al. 18165683 [13] “Jervell and Lange-Nielsen syndrome: a Norwegian perspective.” Tranebjaerg L.et.al. 10704188 [14] “KVLQT1 mutations in three families with familial or sporadic long QT syndrome.” Russell M.W.et.al. 8872472 [15] “Evidence of a long QT founder gene with varying phenotypic expression in South African families.” de Jager T.et.al. 8818942 [16] “Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.” Tanaka T.et.al. 9024139 [17] “KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.” Donger C.et.al. 9386136 [18] “The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.” van den Berg M.H.et.al. 9272155 [19] “Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.” Wollnik B.et.al. 9302275 [20] “New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.” Li H.et.al. 9570196 [21] “A recessive variant of the Romano-Ward Long-QT syndrome?” Priori S.G.et.al. 9641694 [22] “Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.” Neyroud N.et.al. 9781056 [23] “Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.” Splawski I.et.al. 9693036 [24] “Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.” Saarinen K.et.al. 9482580 [25] “A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.” Ackerman M.J.et.al. 9702906 [26] “Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.” Mohammad-Panah R.et.al. 10090886 [27] “Congenital long QT syndrome. The value of genetics in prognostic evaluation.” Denjoy I.et.al. 10367071 [28] “Low penetrance in the long-QT syndrome: clinical impact.” Priori S.G.et.al. 9927399 [29] “Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.” Larsen L.A.et.al. 10482963 [30] “Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.” Jongbloed R.J.E.et.al. 10220144 [31] “High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.” Larsen L.A.et.al. 10220146 [32] “Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.” Franqueza L.et.al. 10409658 | |
| Structure: | |
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| FASTA formatted sequence |
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1: MAAASSPPRA ERKRWGWGRL PGARRGSAGL AKKCPFSLEL AEGGPAGGAL YAPIAPGAPG 61: PAPPASPAAP AAPPVASDLG PRPPVSLDPR VSIYSTRRPV LARTHVQGRV YNFLERPTGW 121: KCFVYHFAVF LIVLVCLIFS VLSTIEQYAA LATGTLFWME IVLVVFFGTE YVVRLWSAGC 181: RSKYVGLWGR LRFARKPISI IDLIVVVASM VVLCVGSKGQ VFATSAIRGI RFLQILRMLH 241: VDRQGGTWRL LGSVVFIHRQ ELITTLYIGF LGLIFSSYFV YLAEKDAVNE SGRVEFGSYA 301: DALWWGVVTV TTIGYGDKVP QTWVGKTIAS CFSVFAISFF ALPAGILGSG FALKVQQKQR 361: QKHFNRQIPA AASLIQTAWR CYAAENPDSS TWKIYIRKAP RSHTLLSPSP KPKKSVVVKK 421: KKFKLDKDNG VTPGEKMLTV PHITCDPPEE RRLDHFSVDG YDSSVRKSPT LLEVSMPHFM 481: RTNSFAEDLD LEGETLLTPI THISQLREHH RATIKVIRRM QYFVAKKKFQ QARKPYDVRD 541: VIEQYSQGHL NLMVRIKELQ RRLDQSIGKP SLFISVSEKS KDRGSNTIGA RLNRVEDKVT 601: QLDQRLALIT DMLHQLLSLH GGSTPGSGGP PREGGAHITQ PCGSGGSVDP ELFLPSNTLP 661: TYEQLTVPRR GPDEGS