CRB1

crumbs cell polarity complex component 1

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000134376
UniProt:
P82279
OMIM:
604210
Synonyms:
LCA8, RP12

Ciliogenesis screen results (4 screens)

  • 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
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=680, lfc=-1.55) PMID:30270045

Phenotypes

Human ciliopathy phenotype:
Leber congenital amaurosis 8; retinitis pigmentosa 12; Leber congenital amaurosis; retinitis pigmentosa; Leber congenital amaurosis 1; autosomal recessive retinitis pigmentosa

Ciliopathy associations

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

References: PMID:10508521, PMID:11231775, PMID:23767994, PMID:37762234, PMID:38091967, PMID:38278208, PMID:30578499, PMID:31630094, PMID:35150033, PMID:15370538, PMID:12015276, PMID:37240262, PMID:31103025, PMID:15231395, PMID:36369640, PMID:38412859, PMID:28129017, PMID:37903307, PMID:35243176

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the CRB1 gene cause Retinitis Pigmentosa and Leber Congenital Amaurosis (PMID: 10508521, PMID:11231775).