EYS

eyes shut homolog

Ensembl:
ENSG00000188107
UniProt:
Q5T1H1
OMIM:
612424
Synonyms:
BA166P24.2, BA307F22.3, BA74E24.1, C6ORF178, C6ORF179

Cilia effects upon perturbation of EYS

Ciliogenesis screen results (1 screen)

  • Failler/Valderrama et al. 2021 (siRNA) [siRNA]: Negative Regulator (Ciliogenesis Candidate) PMID:33206585

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa; retinitis pigmentosa 25; autosomal recessive retinitis pigmentosa

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

Subcellular localization

cilia, endoplasmic reticulum, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Ciliary membrane
  • Transition zone

Function

EYS protein is highly concentrated near the connecting cilium/transition zone (CC/TZ) of photoreceptors and also highly concentrated in the outer segment of primate cones. A lysis of EYS-deficient zebrafish shows that EYS is required for the mainte nce of the ciliary pocket and survival of cone photoreceptors as well as survival of rod photoreceptors(27737822).

Model organism evidence

Danio rerio (3 references)

EYS protein was enriched near photoreceptor connecting cilia in the wild-type, but its presence and proper localization was significantly reduced in mutant animals.

Pomgnt1 mutation in zebrafish resulted in a loss of matriglycan, retention of synaptotagmin-1-positive EYS secretory vesicles within the outer nuclear layer, and diminished EYS protein near the connecting cilia.

PMIDs: 36499139, 32385361, 27737822

Mus musculus (1 reference)

Immunostaining indicated that EYS localized near the connecting cilium/transition zone in photoreceptors.

PMIDs: 27737822