PUF60

poly(U) binding splicing factor 60

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000179950
UniProt:: Q9UHX1
OMIM:: 604819
Synonyms:: FIR, ROBPI, SIAHBP1

Ciliogenesis screen results (2 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-9.40) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680

Phenotypes

Human ciliopathy phenotype:: intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Function

The alternatively spliced genes were enriched in pathways related to cilium assembly and organisation, epigenetic regulation, and immune processes among others.

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