MNS1

meiosis specific nuclear structural 1

Ensembl:
ENSG00000138587
UniProt:
Q8NEH6
OMIM:
610766
Synonyms:
FLJ11222, SPATA40

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

Subcellular localization

basal body, cilia, flagella, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • 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 D H5. 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.

Model organism evidence

Mus musculus (1 reference)

Ciliopathy panel testing and whole exome sequencing identified one previously reported and two novel MNS1 variants extending the genotypic spectrum of disease.

PMIDs: 38920647