Gene: KCNQ1 (potassium voltage-gated channel subfamily Q member 1) Homo sapiens
Symbol: KCNQ1
Name: potassium voltage-gated channel subfamily Q member 1
Description: This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATFB1; ATFB3; FLJ26167; IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1; JLNS1; KCNA8; KCNA9; kidney and cardiac voltage dependend K+ channel; KQT-like 1; Kv1.9; Kv7.1; KVLQT1; LQT; LQT1; OTTHUMP00000011540; OTTHUMP00000011587; potassium channel, voltage gated KQT-like subfamily Q, member 1; potassium voltage-gated channel subfamily KQT member 1; potassium voltage-gated channel, KQT-like subfamily, member 1; RWS; slow delayed rectifier channel subunit; SQT2; voltage-gated potassium channel subunit Kv7.1; WRS
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38112,444,991 - 2,849,110 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37112,466,221 - 2,870,340 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36112,422,797 - 2,826,916 (+)NCBINCBI36hg18NCBI36
Build 34112,439,259 - 2,826,915NCBI
Celera112,501,049 - 2,905,069 (+)NCBI
Cytogenetic Map11p15.5-p15.4NCBI
HuRef112,256,184 - 2,658,673 (+)NCBIHuRef
CHM1_1112,465,155 - 2,869,215 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)