PACS1

phosphofurin acidic cluster sorting protein 1

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000175115
UniProt:: Q6VY07
OMIM:: 607492
Synonyms:: FLJ10209, KIAA1175

Ciliogenesis screen results (3 screens)

Wheway et al. 2015 (siRNA) [siRNA]: No effect 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:: abnormal semil vesicle morphology, preweaning lethality, complete penetrance
Human ciliopathy phenotype:: Intellectual disability - craniofacial dysmorphism - cryptorchidism; Intellectual disability

Subcellular localization

basal body, cytosol

References: PMID:16308564

Functional category

Ciliary assembly/disassembly
Viral interactions

Function

Casein kinase 2 (CK2)-mediated phosphorylation of three critical serine residues within a cluster of acidic amino acids in nephrocystin mediates PACS-1 binding, and is essential for colocalization of nephrocystin with PACS-1 at the base of cilia.

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