SYNJ1

synaptojanin 1

Tier: Gold Standard Ciliary Genes

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

Subcellular localization

basal body, cytosol, endosome

References: doi:10.1073/pnas.2318943121, PMID:38635628

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation

Function

SYNJ1, (Synaptojanin-1 (SJ1)) may contribute to the control of ciliary protein dynamics in dopaminergic neurons, with implications on cilia-mediated signaling (38635628).

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