TRANSPORTERS FROM HUMANS:
| Transporter Information: | |
| Name: | potassium voltage-gated channel, KQT-like subfamily, member 1 |
|---|---|
| Symbol: | KCNQ1 |
| TC: | 1.A.1.15.1 |
| Locations: | 11p15.5 |
| Aliases: | KCNA8, KVLQT1, Kv7.1 |
| Swiss-Prot: | P51787 |
| Accession Number: | NM_181798 |
| GDB | GDB:741244 |
| LocusLink | 3784 |
| OMIM | 607542 |
| PubMed (8528244): | Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J,Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA, Moss AJ, AtkinsonDL, Landes GM, Connors TD, Keating MT. Positional cloning of a novel potassium channel gene: KVLQT1 mutations causecardiac arrhythmias.Nat Genet. 1996 Jan;12(1):17-23. PMID: 8528244 [PubMed - indexed for MEDLINE] Genetic factors contribute to the risk of sudden death from cardiac arrhythmias. Here, positional cloning methods establish KVLQT1 as the chromosome 11-linked LQT1 gene responsible for the most common inherited cardiac arrhythmia. KVLQT1 is strongly expressed in the heart and encodes a protein with structural features of a voltage-gated potassium channel. KVLQT1 mutations are present in affected members of 16 arrhythmia families, including one intragenic deletion and ten different missense mutations. These data define KVLQT1 as a novel cardiac potassium channel gene and show that mutations in this gene cause susceptibility to ventricular tachyarrhythmias and sudden death. |
>P51787|KCNQ1_HUMAN Potassium voltage-gated channel subfamily KQT member 1 - Homo sapiens (Human).
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPGPAPPASPAAPAAPPVASDLG
PRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWME
IVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH
VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVP
QTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAP
RSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFM
RTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQ
RRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQ
PCGSGGSVDPELFLPSNTLPTYEQLTVPRRGPDEGS
| |