MNS1

Chr 15q21.3

meiosis specific nuclear structural 1

Aliases:: CFAP127, FLJ11222, SPATA40
MANE:: ENST00000260453.4

OMIM: 610766 ↗NCBI: 55329 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MNS1 · Q8NEH6

v62025-08-01

Predicted Aligned Error matrix for MNS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.9/ 100

Confident

495 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)44%
Low(50–70)16%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism
BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

heterotaxy, visceral, 9, autosomal, with male infertility
0.67
prostate carcinoma
0.32
situs inversus
0.31
Situs inversus totalis
0.27
prostate cancer
0.27
Respiratory insufficiency
0.27
drug allergy
0.26
glaucoma
0.24
adolescent idiopathic scoliosis
0.24
B-cell chronic lymphocytic leukemia
0.23

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Meiosis-specific nuclear structural protein 1

Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). May play a role in the control of meiotic division and germ cell differentiation through regulation of pairing and recombination during meiosis. Required for sperm flagella assembly (By similarity). May play a role in the assembly and function of the outer dynein arm-docking complex (ODA-DC). ODA-DC mediates outer dynein arms (ODA) binding onto the axonemal doublet microtubules (PubMed:30148830)