Entity Details
| Primary name |
DDX59_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q5T1V6 |
| EntryName | DDX59_HUMAN |
| FullName | Probable ATP-dependent RNA helicase DDX59 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 619 |
| SequenceStatus | complete |
| DateCreated | 2007-04-03 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
| Nucleus |
Domains
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| Domain | Name | Category | Type |
| IPR001650 | Helicase, C-terminal | Domain | Domain |
| IPR007529 | Zinc finger, HIT-type | Domain | Domain |
| IPR011545 | DEAD/DEAH box helicase domain | Domain | Domain |
| IPR014001 | Helicase superfamily 1/2, ATP-binding domain | Domain | Domain |
| IPR014014 | RNA helicase, DEAD-box type, Q motif | Domain | Domain |
| IPR027417 | P-loop containing nucleoside triphosphate hydrolase | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 174300 | OMIM | Orofaciodigital syndrome 5 (OFD5) | A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |