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).