IQCB1

Cilia effects upon perturbation of IQCB1

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.23) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.03) PMID:41160700

Phenotypes

Mouse phenotype:

increased lean body mass, increased heart left ventricle size, preweaning lethality, incomplete penetrance, increased cornea thickness, decreased total body fat amount

Mouse ciliopathy phenotype:

thick ventricular wall

Human ciliopathy phenotype:

Senior-Loken syndrome; Leber congenital amaurosis; Nephronophthisis; nephronophthisis; Senior-Loken syndrome 5

Ciliopathy associations

• Leber Congenital Amaurosis
• Senior-Løken Syndrome

Subcellular localization

basal body, centrosome, cilia, nucleus

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

Also known as NPHP5. Required for extension of an axoneme after docking of the basal body to the cell membrane. Absence leads to mislocalization of BBS2, BBS5 and destroys BBSome integrity (27328943). Interacts with CEP290 and is required for early cilia assembly, migration and/or anchoring of centrosomes to the cell cortex (23446637). NPHP5-binding to the BBSome is crucial for BBSome integrity and ciliary trafficking (25552655). NPHP5 knockdown studies in vitro show decreased numbers of primary cilia in hTert-RPE1 cells. (27328943)

Model organism evidence