Version 5.4
| Homo sapiens Protein: EYS | |||||||||
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| Summary | |||||||||
| InnateDB Protein | IDBP-91782.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | EYS | ||||||||
| Protein Name | eyes shut homolog (Drosophila) | ||||||||
| Synonyms | |||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Protein | ENSP00000359655 | ||||||||
| InnateDB Gene | IDBG-91801 (EYS) | ||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||
| Function | Required to maintain the integrity of photoreceptor cells. {ECO:0000269PubMed:18836446}. | ||||||||
| Subcellular Localization | Secreted {ECO:0000305PubMed:18836446}. Note=Localizes in the photoreceptor cell layer. | ||||||||
| Disease Associations | Retinitis pigmentosa 25 (RP25) [MIM:602772]: 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. {ECO:0000269PubMed:18836446, ECO:0000269PubMed:18976725, ECO:0000269PubMed:20333770, ECO:0000269PubMed:20696082, ECO:0000269PubMed:21069908}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||
| Tissue Specificity | Present in retina. {ECO:0000269PubMed:18836446, ECO:0000269PubMed:18976725}. | ||||||||
| Comments | |||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||
| PDB ID | |||||||||
| InterPro |
IPR000742
Epidermal growth factor-like domain IPR001791 Laminin G domain IPR001881 EGF-like calcium-binding domain IPR008985 Concanavalin A-like lectin/glucanases superfamily |
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| PFAM |
PF00008
PF00054 PF02210 PF07645 |
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| PRINTS | |||||||||
| PIRSF | |||||||||
| SMART |
SM00181
SM00210 SM00282 SM00179 |
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| TIGRFAMs | |||||||||
| Post-translational Modifications | |||||||||
| Modification | |||||||||
| Cross-References | |||||||||
| SwissProt | Q5T1H1 | ||||||||
| PhosphoSite | PhosphoSite-Q5T1H1 | ||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 346007 | ||||||||
| UniGene | Hs.737566 | ||||||||
| RefSeq | NP_001278938 | ||||||||
| HUGO | HGNC:21555 | ||||||||
| OMIM | 612424 | ||||||||
| CCDS | |||||||||
| HPRD | 16853 | ||||||||
| IMGT | |||||||||
| EMBL | AL050329 AL078597 AL109612 AL109922 AL132767 AL133322 AL137007 AL353153 AL353669 AL354719 AL354913 AL355357 AL356454 AL357375 AL365217 AL450319 AL450324 AL450394 AL589916 AL590546 AL590784 AL603767 AY358133 BC133011 BC133013 FJ416331 FM209056 | ||||||||
| GenPept | AAI33012 AAI33014 AAQ88500 ACJ37365 CAB99359 CAI13283 CAM13294 CAM23289 CAM27006 CAM28320 CAR64275 CAX13915 CAX14957 CAX15136 CAX15162 CAX15163 CAX15174 CAX15210 CAX15211 | ||||||||