MNS1 Gene Summary [Human]
This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008]
Details
| Type | Processed Transcript |
| Official Symbol | MNS1 |
| Official Name | meiosis specific nuclear structural 1 [Source:HGNC Symbol;Acc:HGNC:29636] |
| Ensembl ID | ENSG00000138587 |
| Bio databases IDs | |
| Aliases | meiosis specific nuclear structural 1, spermatogenesis associated 40 |
| Synonyms | HTX9, meiosis-specific nuclear structural 1, meiosis-specific nuclear structural protein 1, Msp1, SPATA40 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MNS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Trichohyalin-plectin-homology domain
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal visceral heterotaxy 9 with male infertility
- oligozoospermia
- hydrocephalus
- situs inversus
- primary ciliary dyskinesia
- left pulmonary isomerism
- situs inversus totalis
role in cell
- organization
- assembly
- abnormal morphology
- motility
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cilia
- basal bodies
- intermediate filaments
- axonemes
- cytosol
- nucleoplasm
- nuclear envelope
- nuclear speckles
- sperm tail
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MNS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- meiotic cell cycle
- sperm axoneme assembly
- positive regulation of flagellum assembly
- left/right axis specification
Cellular Component
Where in the cell the gene product is active
- nuclear envelope
- axonemal microtubule
- motile cilium
- intermediate filament
- sperm flagellum
- axoneme
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding