| Gene Information | |
|---|---|
| Gene Name | EYS |
| Organism | Homo sapiens (Human) |
| Gene Length | 3165 |
| Protein Names | Protein eyes shut homolog (Epidermal growth factor-like protein 10) (EGF-like protein 10) (Epidermal growth factor-like protein 11) (EGF-like protein 11) (Protein spacemaker homolog) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 244 ( ENSG00000188107 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | NA |
| Gene Card | EYS |
| Uniprot ID | Q5T1H1 |
| Pfam | PF00008; PF12661; PF00054; PF02210 |
| In ASD | no |
| Allosteric Prediction | no (-1.196141152) |
| Ortholog in Animals | Alpaca_ EYS ( ortholog_one2one ) Macaque_ EYS ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | VWDE, EFEMP1, FBLN1, FBLN5, FBLN2, EFEMP2 |
| Tissue | pineal.gland |
| Tissue Specificity | Expressed in retina (at protein level) (PubMed:18976725, PubMed:18836446, PubMed:27737822, PubMed:27846257). Isoform 1: Detected in retina (PubMed:27846257). Isoform 2: Detected in retina (PubMed:27846257). Isoform 3: Strongly expressed in retina and testis (PubMed:27846257). Isoform 4: Strongly expressed in testis, and weakly expressed in retina (PubMed:27846257). {ECO:0000269|PubMed:18836446, ECO:0000269|PubMed:18976725, ECO:0000269|PubMed:27737822, ECO:0000269|PubMed:27846257}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs111947397 rs112609906 rs12193967 rs543011021 rs112822256 rs61753611 rs61753610 rs142450703 rs9342464 rs17411795 rs201652272 rs112464110 rs9294631 rs367857088 rs143327210 rs150951106 rs190009374 rs17404123 rs12663622 rs17403955 rs16895519 rs624851 rs62415828 rs1260400598 rs62415827 rs62415826 rs147641443 rs561830314 rs75831552 rs535663619 rs57312007 rs199689193 rs16895517 rs9353806 rs188093810 rs1278246029 rs115066356 rs893294562 rs868349465 rs201580493 rs749909863 rs141603172 rs145623359 rs4710457 rs768964978 rs66462731 rs74636274 rs1250317776 rs111991705 rs144513453 |
| Subcellular location [CC] | Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:27737822}. Cell projection, cilium {ECO:0000269|PubMed:27737822, ECO:0000269|PubMed:27846257}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:27846257}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:27846257}. Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix {ECO:0000269|PubMed:27737822}. Note=Localizes to discrete puncta at, or adjacent to, the photoreceptor connecting cilium (PubMed:27737822). Highly expressed in cone photoreceptor outer segments (PubMed:27737822). Weakly expressed in rod photoreceptor outer segments (By similarity). May localize to the cilium axoneme (PubMed:27846257). May also be secreted into the interphotoreceptor extracellular matrix (PubMed:27737822). {ECO:0000250|UniProtKB:A0A2K5V015, ECO:0000269|PubMed:27737822, ECO:0000269|PubMed:27846257}. |
| Mouse PG classification | NA |
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