K+ voltage-gated channel subfamily KQT member 1; voltage-gated K+ channel subunit Kv7.1; IKs producing slow voltage-gated K+ channel subunit alpha KvLQT1; KQT-like 1 (KCNQ1, KCNA8, KCNA9, KVLQT1, KCNQ1OT1)
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Function
- probably important in cardiac repolarization
- associates with KCNE1 (minK) to form the I(Ks) cardiac K+ current
- elicits a rapidly activating, K+ selective outward current
- muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels were coexpressed with M1 muscarinic receptors
- may associate also with KCNE3 (MiRP2) to form the K+ channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (reduced in cystic fibrosis & pathologically stimulated in cholera & other forms of secretory diarrhea)
- heterotetramer with KCNE1 (minK) or KCNE3 (MiRP2)
- interacts with CALM
Structure
- the segment S4 is probably the voltage-sensor & is characterized by a series of positively charged amino acids at every third position
- belongs to the K+ channel family, KQT subfamily
Compartment
- cell membrane; multi-pass membrane protein
- cytoplasmic vesicle membrane
Alternative splicing
named isoforms=2 additional isoforms seem to exist; truncated isoform non-functional alone but modulatory when coexpressed with the full-length isoform 1
Expression
- abundantly expressed in heart, pancreas, prostate, kidney, small intestine & peripheral blood leukocytes
- less abundant in placenta, lung, spleen, colon, thymus, testis & ovaries
Pathology
- defects in KCNQ1 are the cause of
- long QT syndrome type 1
- Jervell & Lange-Nielsen syndrome type-1
- atrial fibrillation familial type 3
- short QT syndrome type 2
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P51787.html
- ↑ LQTSdb; Note: KCNQ1 mutations page http://www.ssi.dk/en/forskning/lqtsdb/kvlqt1.htm
- ↑ Genedis; Note: congenital long QT syndrome website http://www.tau.ac.il/lifesci/bioinfo/genedis/heart/long_qt.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1
- ↑ Wikipedia; Note: KvLQT1 entry http://en.wikipedia.org/wiki/KvLQT1
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3784
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3784
- OMIM: https://mirror.omim.org/entry/192500
- OMIM: https://mirror.omim.org/entry/220400
- OMIM: https://mirror.omim.org/entry/607542
- OMIM: https://mirror.omim.org/entry/607554
- OMIM: https://mirror.omim.org/entry/609621
- UniProt: http://www.uniprot.org/uniprot/P51787.html