FAM161A

Cilia effects upon perturbation of FAM161A

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (1 screen)

• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

abnormal optic disk morphology, decreased coping response, increased grip strength, decreased circulating hdl cholesterol level, increased heart rate, decreased circulating cholesterol level, shortened rr interval, increased lean body mass, decreased exploration in new environment, increased startle reflex, increased circulating sodium level

Mouse ciliopathy phenotype:

increased heart weight, abnormal lens morphology, abnormal reti vasculature morphology, abnormal reti blood vessel morphology, abnormal reti morphology

Human ciliopathy phenotype:

retinitis pigmentosa

Ciliopathy associations

• Retinal Dystrophy/Degeneration

Subcellular localization

basal body, centrosome, microtubules

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

Causative gene for retinitis pigmentosa (20705278). Reti l ciliopathy protein that is part of connecting cillium complex. Interacts with CEP290, lebercin, OFD1 and SDCCAG8. These interactions suggest that FAM161A could be involved in protein transport and docking between the inner segments and outer plexiform layer (22940612). Component of microtubule- organizing centers that associates with the intracellular microtubule network to increase the acetylation of 伪-tubulin. Involved in microtubule stabilization to maintain the microtubule tracks and/or in transport processes along cytoplasmic and ciliary (24664697, 22791751).

Model organism evidence