SAV1

salvador family WW domain containing protein 1

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000151748
UniProt:: Q9H4B6
OMIM:: 607203
Synonyms:: SALVADOR, WW45, WWP4

Cilia effects upon perturbation of SAV1

Cilia number / % ciliated:: Decreased cilia number
Loss-of-function effect:: Shorter cilia

Ciliogenesis screen results (2 screens)

Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Subcellular localization

basal body, cytosol, nucleus

References: PMID:25367221

Functional category

Ciliary assembly/disassembly
Cardiac & muscle development

Function

MST1/2-SAV1 regulates ciliogenesis by associating with the NPHP transition-zone complex and promoting ciliary localization of multiple ciliary cargoes(25367221). Depletion of MST1/2 or SAV1 reduces both the percentage of ciliated cells and cilia length (PMID 25367221).

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