SNAP25
synaptosome associated protein 25
- Ensembl:
- ENSG00000132639
- UniProt:
- P60880
- OMIM:
- 600322
- Synonyms:
- BA416N4.2, DJ1068F16.2, RIC-4, RIC4, SEC9
Cilia effects upon perturbation of SNAP25
Ciliogenesis screen results (4 screens)
- Kim2016: Not Reported
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.02) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Subcellular localization
cilia, cytosol
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Actin & cytoskeleton regulation
- Metabolism
- Viral interactions
- Signaling (Hedgehog, GPCRs, ion channels)
- Ciliary membrane
Function
Regulate rhodopsin delivery, controls ciliogenesis through the expansion of the ciliary membrane and rod outer segments biogenesis (19454479). Potentially involved in membrane trafficking into the outer segment (9452464).
Model organism evidence
Mus musculus (2 references)
Nephrocystin (NPHP1) is a ciliary transition zone protein and its ablation causes nephronophthisis (NPHP) with partially penetrant retinal dystrophy.
Mutations in the centrosomal protein 290 (CEP290) gene cause various ciliopathies involving retinal degeneration.