CELSR1

cadherin EGF LAG seven-pass G-type receptor 1

Ensembl:
ENSG00000075275
UniProt:
Q9NYQ6
OMIM:
604523
Synonyms:
ADGRC1, CDHF9, FMI2, HFMI2, ME2

Cilia effects upon perturbation of CELSR1

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.49) 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

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

In Celsr1-deficient mice, the ciliary motion is not orchestrated along the ovary-uterus axis and the transport ability of beating cilia is impaired ( 25406397).

Model organism evidence

Mus musculus (2 references)

CAPZA1 deficiency disrupts sperm flagellar structure and motility, potentially involving the p300/SLC7A11 pathway.

STUDY QUESTION: Does DNAH14 deficiency impair sperm flagellar integrity and contribute to male infertility?

PMIDs: 41858859, 41686705