EVC

EvC ciliary complex subunit 1

Ensembl:
ENSG00000072840
UniProt:
P57679
OMIM:
604831
Synonyms:
DWF-1, EVC1

Cilia effects upon perturbation of EVC

Loss-of-function effect:
No effect
Overexpression effect:
longer cilia

Ciliogenesis screen results (6 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.21) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.55) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=2, lfc=-3.46) PMID:30270045
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.08) PMID:41160700

Ciliopathy associations

  • Ellis-van Creveld Syndrome
  • Short-Rib Thoracic Dysplasia
  • Skeletal Ciliopathy
  • Weyers Acrofacial Dysostosis

Subcellular localization

basal body, cilia, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Ciliary membrane
  • Transition zone
  • ECM & connective tissue

Function

Positive regulator of the Hh sig lling pathway, interacting with Smo and promoting Sufu/Gli3 dissociation and Gli3 ciliary traffic (17660199, 23026747, 21356043, 22986504). Mutated in Ellis- van Creveld syndrome (21356043). EVC1 and EVC2 are mutually required for localizing to primary cilia and also for maintaining their normal protein levels (23026747).

Model organism evidence

Mus musculus (1 reference)

One such example is Ellis-van Creveld (EvC) syndrome, a ciliopathy mainly caused by mutations in EVC (EvC ciliary complex subunit1), a key component of the primary cilium essential for the transduction of Hedgehog signaling.

PMIDs: 41913599