Entity Details
| Primary name |
CFA44_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q96MT7 |
| EntryName | CFA44_HUMAN |
| FullName | Cilia- and flagella-associated protein 44 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 1854 |
| SequenceStatus | complete |
| DateCreated | 2007-10-02 |
| 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 |
| IPR015943 | WD40/YVTN repeat-like-containing domain superfamily | Family | Homologous superfamily |
| IPR019775 | WD40 repeat, conserved site | Site | Conserved site |
| IPR036322 | WD40-repeat-containing domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 617593 | OMIM | Spermatogenic failure 20 (SPGF20) | An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF20 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions