UBAP1L

ubiquitin associated protein 1 like

Ensembl:
ENSG00000246922
UniProt:
F5GYI3

Cilia effects upon perturbation of UBAP1L

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.69) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Ciliopathy associations

  • Cone-Rod Dystrophy
  • Retinal Dystrophy/Degeneration

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the UBAP1L gene cause Cone-Rod Dystrophy (PMID: 38293907).