Entity Details
| Primary name |
EYS_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q5T1H1 |
| EntryName | EYS_HUMAN |
| FullName | Protein eyes shut homolog |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 3165 |
| SequenceStatus | complete |
| DateCreated | 2008-05-20 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell projection |
| Cytoplasm |
| Secreted |
Domains
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| Domain | Name | Category | Type |
| IPR000152 | EGF-type aspartate/asparagine hydroxylation site | PTM | PTM |
| IPR000742 | EGF-like domain | Domain | Domain |
| IPR001791 | Laminin G domain | Domain | Domain |
| IPR001881 | EGF-like calcium-binding domain | Domain | Domain |
| IPR009030 | Growth factor receptor cysteine-rich domain superfamily | Family | Homologous superfamily |
| IPR013032 | EGF-like, conserved site | Site | Conserved site |
| IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily | Family | Homologous superfamily |
| IPR018097 | EGF-like calcium-binding, conserved site | Site | Conserved site |
Diseases
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| Disease ID | Source | Name | Description |
| 602772 | OMIM | Retinitis pigmentosa 25 (RP25) | A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |