CRB1

crumbs cell polarity complex component 1

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

Cilia effects upon perturbation of CRB1

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

Subcellular localization

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).

Model organism evidence

Xenopus (1 reference)

Crb3 is required to organize the apical domain of multiciliated cells.

PMIDs: 37840525