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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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MNS1
meiosis specific nuclear structural 1
Chromosome 15 Β· 15q21.3
NCBI Gene: 55329Ensembl: ENSG00000138587.7HGNC: HGNC:29636UniProt: B3KQ70
32PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ciliumaxonemeidentical protein bindingprotein bindingheterotaxy, visceral, 9, autosomal, with male infertilityprostate carcinomaglaucomadrug allergy
✦AI Summary

MNS1 (meiosis-specific nuclear structural protein-1) is a microtubule inner protein component of motile cilia and sperm flagella axonemes essential for proper ciliary and flagellar function 1. The protein plays a critical role in outer dynein arm-docking complex (ODA-DC) assembly, which mediates outer dynein arm binding to axonemal doublet microtubules 2. MNS1 localizes to respiratory epithelial cilia and sperm flagella, where it dimerizes and interacts with CCDC114, a key ODA-DC component 2. Biallelic MNS1 mutations cause MNS1-related motile ciliopathy, an autosomal recessive disorder characterized by laterality defects including situs inversus totalis and heterotaxia, combined with male infertility 34. Affected individuals exhibit reduced or absent outer dynein arms in respiratory cilia 2. Recent clinical observations extend the phenotype to include respiratory disease, with affected individuals presenting neonatal respiratory distress syndrome, recurrent respiratory tract infections, and chr15 rhinitis 4. Additionally, compound heterozygous MNS1 variants have been associated with complete situs inversus accompanied by severe myopia and dental agenesis 5. The disorder represents one of at least 33 genes implicated in human heterotaxy and situs defects 6, establishing MNS1 as a critical component of ciliary-mediated left-right axis development and respiratory mucociliary clearance.

Sources cited
1
MNS1 is a microtubule inner protein part of dynein-decorated doublet microtubules in cilia axoneme required for motile cilia beating
PMID: 36191189
2
MNS1 plays a role in ODA-DC assembly and interacts with CCDC114; loss-of-function mutations cause laterality defects and male infertility
PMID: 30148830
3
Biallelic MNS1 frameshift variant causes situs inversus and male infertility in an Amish family
PMID: 31534215
4
MNS1 deficiency causes heterotaxia, respiratory disease including NRDS and recurrent infections, with absence of MNS1 from respiratory epithelial cells
PMID: 38920647
5
Compound heterozygous MNS1 variants associated with complete situs inversus, severe myopia, and dental agenesis
PMID: 39233552
6
MNS1 is one of at least 33 genes implicated in human heterotaxy and situs defects
PMID: 38884744
Disease Associationsβ“˜21
heterotaxy, visceral, 9, autosomal, with male infertilityOpen Targets
0.65Moderate
prostate carcinomaOpen Targets
0.33Weak
glaucomaOpen Targets
0.30Weak
drug allergyOpen Targets
0.30Weak
situs inversusOpen Targets
0.27Weak
Situs inversus totalisOpen Targets
0.27Weak
prostate cancerOpen Targets
0.26Weak
Respiratory insufficiencyOpen Targets
0.26Weak
adolescent idiopathic scoliosisOpen Targets
0.25Weak
chronic lymphocytic leukemiaOpen Targets
0.25Weak
type 2 diabetes mellitusOpen Targets
0.23Weak
alcohol drinkingOpen Targets
0.20Weak
placental retentionOpen Targets
0.17Weak
Hodgkins lymphomaOpen Targets
0.17Weak
multiple myelomaOpen Targets
0.17Weak
non-Hodgkins lymphomaOpen Targets
0.17Weak
Myocardial IschemiaOpen Targets
0.13Weak
azoospermiaOpen Targets
0.08Suggestive
obesityOpen Targets
0.08Suggestive
open-angle glaucomaOpen Targets
0.08Suggestive
Heterotaxy, visceral, 9, autosomal, with male infertilityUniProt
Pathogenic Variants8
NM_018365.4(MNS1):c.724C>T (p.Arg242Ter)Pathogenic
Heterotaxy, visceral, 9, autosomal, with male infertility|not provided|MNS1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 242
NM_018365.4(MNS1):c.675AGA[1] (p.Glu226del)Likely pathogenic
Heterotaxy, visceral, 9, autosomal, with male infertility
β˜…β˜†β˜†β˜†2024β†’ Residue 226
NM_018365.4(MNS1):c.508dup (p.Ile170fs)Likely pathogenic
Heterotaxy, visceral, 9, autosomal, with male infertility
β˜…β˜†β˜†β˜†2023β†’ Residue 170
NM_018365.4(MNS1):c.538C>T (p.Arg180Ter)Likely pathogenic
Heterotaxy, visceral, 9, autosomal, with male infertility
β˜…β˜†β˜†β˜†2022β†’ Residue 180
NM_018365.4(MNS1):c.407_410del (p.Glu136fs)Likely pathogenic
Situs inversus|Heterotaxy, visceral, 9, autosomal, with male infertility|MNS1-related disorder
β˜…β˜†β˜†β˜†2019β†’ Residue 136
NM_018365.4(MNS1):c.605dup (p.Gln203fs)Pathogenic
Heterotaxy, visceral, 9, autosomal, with male infertility
β˜†β˜†β˜†β˜†2024β†’ Residue 203
NM_018365.4(MNS1):c.68_69delinsAG (p.Cys23Ter)Pathogenic
Heterotaxy, visceral, 9, autosomal, with male infertility
β˜†β˜†β˜†β˜†2024β†’ Residue 23
NM_018365.4(MNS1):c.232G>T (p.Glu78Ter)Likely pathogenic
MNS1-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 78
View on ClinVar β†—
Related Genes
EFHC2Protein interaction91%TEKT1Protein interaction91%TEKT3Protein interaction90%EFHC1Protein interaction90%TEKT4Protein interaction90%CFAP53Protein interaction89%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
29%
Heart
24%
Brain
23%
Lung
9%
Liver
6%
Gene Interaction Network
Click a node to explore
MNS1EFHC2TEKT1TEKT3EFHC1TEKT4CFAP53
PROTEIN STRUCTURE
Preparing viewer…
PDB7UNG Β· 3.60 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.66–1.03]
RankingsWhere MNS1 stands among ~20K protein-coding genes
  • #11,549of 20,598
    Most Researched32
  • #3,120of 5,498
    Most Pathogenic Variants8
  • #10,245of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedMNS1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human Genetics of Defects of Situs.
PMID: 38884744
Adv Exp Med Biol Β· 2024
1.00
2
Expanding MNS1 Heterotaxy Phenotype.
PMID: 39233552
Am J Med Genet A Β· 2025
0.90
3
MNS1 promotes hepatocarcinogenesis and metastasis via activating PI3K/AKT by translocating Ξ²-catenin and predicts poor prognosis.
PMID: 33506565
Liver Int Β· 2021
0.80
4
Biallelic Variants in
PMID: 38920647
Cells Β· 2024
0.70
5
Heterologous expression and biochemical characterization of an alpha1,2-mannosidase encoded by the Candida albicans MNS1 gene.
PMID: 19057825
Mem Inst Oswaldo Cruz Β· 2008
0.60