SNAP23
synaptosome associated protein 23
- Ensembl:
- ENSG00000092531
- UniProt:
- O00161
- OMIM:
- 602534
- Synonyms:
- HST17016, SNAP23A, SNAP23B
Cilia effects upon perturbation of SNAP23
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.65) 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:
- embryonic lethality prior to organogenesis, increased startle reflex, preweaning lethality, complete penetrance, abnormal coat/hair pigmentation
Subcellular localization
cilia, nucleus
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Actin & cytoskeleton regulation
- T cell biology
Function
S P23 has localized in primary cilia.
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.