KCNQ1

potassium voltage-gated channel subfamily Q member 1

Ensembl:
ENSG00000282076, ENSG00000053918
UniProt:
P51787
OMIM:
607542
Synonyms:
JLNS1, KCNA8, KCNA9, KV7.1, KVLQT1

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

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 re l 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)

Model organism evidence

Mus musculus (2 references)

Primary cilia on crown cells are required to interpret the directionality of fluid movement and initiate flow-dependent gene transcription.

We report that human KCNQ1 Long QT syndrome disease alleles regulate renal ciliogenesis; KCNQ1-p.R518X, -p.A178T and -p.K362R could not rescue ciliogenesis after Kcnq1-siRNA-mediated depletion in contrast to wild-type KCNQ1 and benign KCNQ1-p.R518Q, suggesting that the ion channel function of KC

PMIDs: 31106399, 26546361