KCNQ1

potassium voltage-gated channel subfamily Q member 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000282076
UniProt:
P51787
OMIM:
607542
Synonyms:
JLNS1, KCNA8, KCNA9, KV7.1, KVLQT1, LQT, LQT1

Cilia effects upon perturbation of KCNQ1

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-9.34) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Subcellular localization

basal body, lysosomes, microtubules

References: PMID:26546361

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Muscle contraction & physiology

Function

Ion channel gene that exhibits a significant negative effect on ciliogenesis but not on cell number. Genetic variants are known to cause Long QT syndrome. KCNQ1 could be implicated in renal ciliopathies (26546361). Overexpression of WT KCNQ1–GFP localized to primary cilia and rescued loss of cilia after siRNA knockdown. Endogenous KCNQ1 localizes to base of primary cilia. Knockdown of Kcnq1 resulted in lower percentage of ciliated cells. (26546361)