RTN4IP1

reticulon 4 interacting protein 1

Ensembl:
ENSG00000130347
UniProt:
Q8WWV3
OMIM:
610502
Synonyms:
NIMP

Cilia effects upon perturbation of RTN4IP1

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-9.81) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance

Ciliopathy associations

  • Cone-Rod Dystrophy

Subcellular localization

cilia associated gene, mitochondria

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation

Function

Mutations in the RTN4IP1 gene cause Cone-Rod Dystrophy (PMID: 33315831).