Entity Details
| Primary name |
RSPH1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8WYR4 |
| EntryName | RSPH1_HUMAN |
| FullName | Radial spoke head 1 homolog |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 309 |
| SequenceStatus | complete |
| DateCreated | 2002-06-20 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell projection |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR003409 | MORN motif | Repeat | Repeat |
Diseases
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| Disease ID | Source | Name | Description |
| 615481 | OMIM | Ciliary dyskinesia, primary, 24 (CILD24) | A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Situs inversus is not observed in CILD24 patients. The disease is caused by variants affecting the gene represented in this entry. RSPH1 mutations result in a primary ciliary diskinesia phenotype with defects of the radial spokes and the axonemal central pair of microtubules (PubMed:23993197). |
Interactions
1 interaction