| GENE NAME | KCNQ1 |
| CHROMOSOME | 11 |
| ENSEMBL ID | ENSG00000053918 |
| ENTREZ ID | 3784 |
| UNIPROT ACCESSION NUMBER | P51787 |
| GO MOLECULAR FUNCTION | delayed rectifier potassium channel activity; voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization; protein kinase A catalytic subunit binding; protein binding; scaffold protein binding; voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization; transmembrane transporter binding; voltage-gated potassium channel activity; voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization; protein phosphatase 1 binding; protein kinase A regulatory subunit binding; outward rectifier potassium channel activity; calmodulin binding; phosphatidylinositol-4,5-bisphosphate binding |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa04725; R-HSA-112316; R-HSA-397014; hsa04971; R-HSA-1296071; R-HSA-1296072; R-HSA-5576891; hsa04972; R-HSA-5576890; hsa04261; R-HSA-5576893; hsa04974; hsa05110 |
| 11 combinations linked to KCNQ1 | OLI1219; OLI1216; OLI1218; OLI361; OLI550; OLI445; OLI549; OLI1217; OLI202; OLI096; OLI362 |
| 10 variants linked to KCNQ1 | KCNQ1:c.1022C>A, p.Ala341Glu; KCNQ1:c.760G>A, p.Val254Met; KCNQ1:c.562delT, p.Trp188fs; KCNQ1:c.728G>C, p.Arg243Pro; KCNQ1:p.Arg518Ter; KCNQ1:c.1748G>A, p.Arg583His; KCNQ1:c.1022C>T, p.Ala341Val; KCNQ1:c.502G>C, p.Gly168Arg; KCNQ1:c.935C>T, p.Thr312Ile; KCNQ1:c.569G>A, p.Arg190Gln |
| 2 diseases linked to KCNQ1 | Familial long QT syndrome; Romano-Ward syndrome |