LRRCC1
leucine rich repeat and coiled-coil centrosomal protein 1
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000133739
- UniProt:
- Q9C099
- OMIM:
- 617791
- Synonyms:
- CLERC, KIAA1764, VFL1
Ciliogenesis screen results (2 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.15) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Phenotypes
- Mouse phenotype:
- decreased erythrocyte cell number
Ciliopathy associations
- Joubert Syndrome
Subcellular localization
basal body, centrosome, nucleus, ciliary tip
References: PMID:41005307, PMID:35319462
Functional category
- Ciliary assembly/disassembly
Function
The depletion of LRRCC1 in human cells induced defects in basal body structure, ciliary assembly, and ciliary signaling, supporting that LRRCC1 cooperates with C2CD3 to organizing the distal region of basal bodys(35319462).