Entity Details
| Primary name |
CF251_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8TBY9 |
| EntryName | CF251_HUMAN |
| FullName | Cilia- and flagella-associated protein 251 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 1149 |
| SequenceStatus | complete |
| DateCreated | 2007-07-24 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell projection |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR001680 | WD40 repeat | Repeat | Repeat |
| IPR011047 | Quinoprotein alcohol dehydrogenase-like superfamily | Family | Homologous superfamily |
| IPR011992 | EF-hand domain pair | Family | Homologous superfamily |
| IPR015943 | WD40/YVTN repeat-like-containing domain superfamily | Family | Homologous superfamily |
| IPR036322 | WD40-repeat-containing domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 618152 | OMIM | Spermatogenic failure 33 (SPGF33) | An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum, including short, bent, curled, thick, or absent flagella. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions