UBAP1L
ubiquitin associated protein 1 like
Tier: Cilia-Associated Genes
- Ensembl:
- ENSG00000246922
- UniProt:
- F5GYI3
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
References: PMID:38293907
Subcellular localization
No ciliary localization reported (cilia-associated gene).
Functional category
- Ciliary assembly/disassembly
Function
Mutations in the UBAP1L gene cause Cone-Rod Dystrophy (PMID: 38293907).