Entity Details
| Primary name |
DAAF3_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8N9W5 |
| EntryName | DAAF3_HUMAN |
| FullName | Dynein axonemal assembly factor 3 |
| TaxID | 9606 |
| Evidence | evidence at transcript level |
| Length | 541 |
| SequenceStatus | complete |
| DateCreated | 2007-08-21 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
| Dynein axonemal particle |
Domains
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| Domain | Name | Category | Type |
| IPR027974 | Domain of unknown function DUF4470 | Domain | Domain |
| IPR028235 | Dynein assembly factor 3, C-terminal domain | Domain | Domain |
| IPR039304 | Dynein assembly factor 3, axonemal | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 606763 | OMIM | Ciliary dyskinesia, primary, 2 (CILD2) | 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients 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
0 interactions
| Interactor | Partner | Sources | Publications | Link |