RIMS1

regulating synaptic membrane exocytosis 1

Ensembl:
ENSG00000079841
UniProt:
Q86UR5
OMIM:
606629
Synonyms:
CORD7, KIAA0340, RAB3IP2, RIM, RIM1

Cilia effects upon perturbation of RIMS1

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.57) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

  • Cone-Rod Dystrophy

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

Mutations in the RIMS1 gene cause Cone-Rod Dystrophy (PMID: 9634506, 12659814).