| GENE NAME | KCNE1 |
| CHROMOSOME | 21 |
| ENSEMBL ID | ENSG00000180509 |
| ENTREZ ID | 3753 |
| UNIPROT ACCESSION NUMBER | P15382 |
| GO MOLECULAR FUNCTION | delayed rectifier potassium channel activity; voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization; protein binding; telethonin binding; voltage-gated potassium channel activity; transmembrane transporter binding; voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization; potassium channel regulator activity |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | R-HSA-397014; R-HSA-5576891; hsa04261; hsa04261; R-HSA-5576890; hsa04261; R-HSA-5576893 |
| 15 combinations linked to KCNE1 | OLI551; OLI1228; OLI549; OLI1226; OLI1218; OLI1222; OLI1223; OLI1225; OLI1219; OLI1227; OLI1221; OLI1220; OLI1217; OLI1216; OLI1224 |
| 5 variants linked to KCNE1 | KCNE1:c.112A>G, p.Ser38Gly; KCNE1:c.379C>A, p.Pro127Thr; KCNE1:c.253G>A, p.Asp85Asn; KCNE1:c.221C>T, p.Ser74Leu; KCNE1:c.95G>A, p.Arg32His |
| 1 disease linked to KCNE1 | Familial long QT syndrome |