AGBL5

Cilia effects upon perturbation of AGBL5

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

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
• Failler/Valderrama et al. 2021 (siRNA) [siRNA]: Negative Regulator (Ciliogenesis Candidate) PMID:33206585

Phenotypes

Human ciliopathy phenotype:

retinitis pigmentosa

Ciliopathy associations

• Retinal Dystrophy/Degeneration

Subcellular localization

basal body, cilia, cytosol, nucleus

Functional category

• Ciliary assembly/disassembly
• Reproduction & sperm

Function

CCP5. Tubulin deglutamylase. Knockdown in zebrafish leads to increase in glutamylation of axonemal (24743595). Knockdown can rescue cilia defects in other zebrafish cilia mutants (24743595). Biallelic missense mutations cause autosomal recessive retinitis pigmentosa (OMIM:615900) (26355662, 26720455, 27764769, 27842159). Causes structural defects in sperm flagella and spermatids with supernumerary centrioles leading to male infertility in mutant mice (c).