MNS1

Cilia effects upon perturbation of MNS1

Cilia number / % ciliated:

Decrease

Loss-of-function effect:

Decrease

Ciliogenesis screen results (4 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

Situs inversus totalis, heterotaxia, respiratory disease (recurrent infections, rhinitis), male infertility

Ciliopathy associations

• Male Infertility
• Primary Ciliary Dyskinesia
• Visceral Heterotaxy / Situs Inversus

References: PMID:39233552, PMID:38920647, PMID:30148830, PMID:31534215, PMID:38920647

Subcellular localization

basal body, cilia, flagella, nucleus

References: PMID:41005307, PMID:25139857, PMID:30148830, PMID:22396656

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Reproduction & sperm
• Cell migration & adhesion

Function

Role in outer dynein arm (ODA) docking in the distal axonemes, stabilising structures in the motile cilium that helps the attachment of motor proteins to the to ensure a correct beating of the cilia, interacts with the ODA docking complex component CCDC114 and DNAH5. Deficiency cases laterality defects (30148830). Essential for the assembly of sperm flagella (22396656). MNS1 biallelic variants now confirmed with respiratory disease (PCD-like) + laterality defects (situs inversus + heterotaxia). First heterotaxia case reported. Immunofluorescence: absence of MNS1 from respiratory epithelial cells.