MNS1: Meiosis-Specific Nuclear Structural Protein 1
Key regulator of meiotic chromosome organization and spermatogenesis
Gene Information Card
| Symbol | MNS1 |
|---|---|
| Full Name | Meiosis-Specific Nuclear Structural Protein 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q21.3 |
| NCBI Gene ID | 55329 ncbi.nlm.nih.gov/gene/55329 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9UHV7 |
| OMIM ID | 610766 |
| HGNC ID | 29603 |
| Aliases | MNS1, FLJ10324, MNS1a, MNS1b |
Description
The MNS1 gene encodes a meiosis-specific nuclear structural protein essential for proper chromosome organization and segregation during meiosis. It is predominantly expressed in testis and plays a critical role in spermatogenesis. Mutations in MNS1 are associated with male infertility due to meiotic arrest.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with meiotic arrest | Loss-of-function mutations disrupt meiotic chromosome pairing and synapsis, leading to spermatogenic failure | ClinVar, OMIM |
| Non-obstructive azoospermia | Homozygous truncating variants impair MNS1 function, causing absence of sperm in ejaculate | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 1.2 | Low |
| Prostate | 0.8 | Low |
| Ovary | 0.5 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | 45.0 | High expression during meiosis |
| Spermatogonia | 12.3 | Moderate |
| HEK293 | 0.1 | Not expressed |
| HeLa | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/start loss | Rare | Loss of translation initiation, likely loss-of-function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss-of-function |
| c.487_488del (p.Leu163fs) | Frameshift | Rare | Frameshift, loss-of-function |
Mutation functional classification
Loss of Function (LOF)
MNS1 loss-of-function mutations cause meiotic arrest and male infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • chromosome (GO:0005694) |
| • meiotic nuclear division (GO:0007126) | • reciprocal meiotic recombination (GO:0007131) |
| • oogenesis (GO:0048477) | • spermatogenesis (GO:0007283) |
Pathways
• Meiosis - Homo sapiens (human) - Reactome R-HSA-1500620
• Spermatogenesis - KEGG hsa04750
Protein Summary
MNS1 is a 267-amino acid nuclear protein expressed specifically during meiosis. It localizes to meiotic chromosomes and is required for homologous chromosome pairing and synapsis. The protein contains a coiled-coil domain and interacts with other meiotic structural components. Its absence leads to meiotic arrest and infertility in males.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MNS1 Knockout HEK293 Cell Line | EDJ-KQ14279 | Human | 55329 | Details Get a Quote |
| MNS1 Knockout HeLa Cell Line | EDJ-KQ43097 | Human | 55329 | Details Get a Quote |
| MNS1 Knockout A-549 Cell Line | EDJ-KQ44313 | Human | 55329 | Details Get a Quote |
| MNS1 Knockout HCT 116 Cell Line | EDJ-KQ44314 | Human | 55329 | Details Get a Quote |
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