STX3
syntaxin 3
- Ensembl:
- ENSG00000166900
- UniProt:
- Q13277
- OMIM:
- 600876
- Synonyms:
- STX3A
Cilia effects upon perturbation of STX3
Ciliogenesis screen results (2 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.28) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Phenotypes
- Mouse phenotype:
- embryonic lethality prior to organogenesis, increased grip strength, embryonic lethality prior to tooth bud stage, preweaning lethality, complete penetrance
Subcellular localization
cilia
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- Cell migration & adhesion
- Signaling (Hedgehog, GPCRs, ion channels)
- Ciliary membrane
Function
Major partner for S P25 in photoreceptor cells and regulates rhodopsin delivery by mediating docking and fusion of rhodopsin transport carriers, expansion of the ciliary membrane and rod outer segments biogenesis (19454479). Mislocalises to the outer segment in Bardet-Biedl syndrome (31694913, 26216965).
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.