SYNJ1
synaptojanin 1
- Ensembl:
- ENSG00000159082
- UniProt:
- O43426
- OMIM:
- 604297
- Synonyms:
- INPP5G, PARK20
Cilia effects upon perturbation of SYNJ1
- Cilia number / % ciliated:
- Incrased cilia number
- Loss-of-function effect:
- Longer cilia
Ciliogenesis screen results (2 screens)
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Mouse phenotype:
- tremors, decreased red blood cell distribution width, decreased neutrophil cell number, increased lymphocyte cell number, decreased monocyte cell number, preweaning lethality, complete penetrance
- Mouse ciliopathy phenotype:
- persistence of hyaloid vascular system
Subcellular localization
basal body, cytosol, endosome
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
Function
SYNJ1, (Sy ptojanin-1 (SJ1)) may contribute to the control of ciliary protein dy mics in dopaminergic neurons, with implications on cilia-mediated sig ling (38635628).
Model organism evidence
Danio rerio (1 reference)
The outer segments and connecting cilia of nrc(a14) cone photoreceptors are normal, but RibeyeB and VAMP2/synaptobrevin, which normally localize to the synapse, accumulate in the nrc(a14) inner segment.
PMIDs: 24392132