RSPH9 Gene Summary [Human]
This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
Details
| Type | Protein Coding |
| Official Symbol | RSPH9 |
| Official Name | radial spoke head component 9 [Source:HGNC Symbol;Acc:HGNC:21057] |
| Ensembl ID | ENSG00000172426 |
| Bio databases IDs | |
| Aliases | radial spoke head component 9 |
| Synonyms | 1700027N10Rik, C6orf206, CILD12, MRPS18AL1, radial spoke head 9 homolog (Chlamydomonas), radial spoke head component 9, RGD1310693 |
| 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 RSPH9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- motile cilia
- axonemes
- sperm tail
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RSPH9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium movement involved in cell motility
- axoneme assembly
- cilium movement
- motile cilium assembly
Cellular Component
Where in the cell the gene product is active
- motile cilium
- radial spokehead
- kinocilium
- sperm flagellum
- axoneme
Molecular Function
What the gene product does at the molecular level
- protein binding