AIPL1

AIP like 1 HSP90 co-chaperone

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000129221
UniProt:
Q9NZN9
OMIM:
604392
Synonyms:
LCA4

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
Leber congenital amaurosis 4; Leber congenital amaurosis; retinitis pigmentosa; cone-rod dystrophy

Ciliopathy associations

  • Cone-Rod Dystrophy
  • Leber Congenital Amaurosis
  • Retinal Dystrophy/Degeneration

References: PMID:16272259, PMID:38278208, PMID:30578499, PMID:31630094, PMID:15370538, PMID:29721967, PMID:12015276, PMID:37240262, PMID:15231395, PMID:31884595, PMID:10615133, PMID:10873396

Subcellular localization

cilia, nucleus

References: PMID:25799540

Functional category

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

Function

Mutated in LCA. Localises to photoreceptor cilium, interacts with EB1.