CEP76

centrosomal protein 76

Ensembl:: ENSG00000101624
UniProt:: Q8TAP6
OMIM:: 620791
Synonyms:: C18ORF9, FLJ12542, HST1705

Cilia effects upon perturbation of CEP76

Ciliogenesis screen results (3 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.26) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.26) PMID:29459680
Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=928, lfc=-2.91) PMID:30270045

Phenotypes

Mouse phenotype:: decreased total reti thickness, abnormal spleen morphology, abnormal reti outer nuclear layer morphology

Ciliopathy associations

Joubert Syndrome

Subcellular localization

centrosome, cilia, cytosol

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Protein processing & maturation

Function

The eukaryotic ciliary/centriolar TGLs are included both catalytically active (mainly from the CCDC135 clade) and i ctive versions (mostly from the CEP76 and CC2D2A/MKS6 clades) key ciliary/centrosomal proteins(22983010).

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