Entity Details
| Primary name |
DRC1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q96MC2 |
| EntryName | DRC1_HUMAN |
| FullName | Dynein regulatory complex protein 1 |
| TaxID | 9606 |
| Evidence | evidence at transcript level |
| Length | 740 |
| SequenceStatus | complete |
| DateCreated | 2007-02-20 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR029440 | Dynein regulatory complex protein 1, C-terminal | Domain | Domain |
| IPR039505 | Dynein regulatory complex protein 1/2, N-terminal | Domain | Domain |
| IPR039750 | Dynein regulatory complex protein | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 615294 | OMIM | Ciliary dyskinesia, primary, 21 (CILD21) | 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. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction