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HUMAN:EYS
Contents |
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | EYS (synonyms: C6orf178, C6orf179, C6orf180, EGFL10, EGFL11, SPAM) | |
| Protein Name(s) | 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 | |
| External Links | ||
| UniProt | Q5T1H1 | |
| EMBL | FM209056 FJ416331 AY358133 AL050329 AL078597 AL109612 AL132767 AL365217 AL589916 AL109922 AL137007 AL450324 AL450394 AL109922 AL137007 AL450324 AL132767 AL109612 AL365217 AL589916 AL133322 AL137007 AL109922 AL450324 AL450394 AL137007 AL109922 AL450324 AL353669 AL354913 AL445677 AL590546 AL590784 AL353153 AL355357 AL356454 AL357375 AL365217 AL109612 AL132767 AL589916 AL445677 AL354913 AL590546 AL590784 AL450319 AL450324 AL450394 AL109922 AL137007 AL450324 AL589916 AL109612 AL132767 AL365217 AL590546 AL354913 AL445677 AL590784 AL590784 AL354913 AL445677 AL590546 AL603767 BC133011 BC133013 | |
| IPI | IPI00375230 IPI00887249 IPI00923621 | |
| RefSeq | NP_001136272.1 NP_001136273.1 NP_938024.1 | |
| UniGene | Hs.25067 | |
| HSSP | P00743 | |
| ProteinModelPortal | Q5T1H1 | |
| IntAct | Q5T1H1 | |
| STRING | Q5T1H1 | |
| PhosphoSite | Q5T1H1 | |
| DMDM | 226707571 | |
| PRIDE | Q5T1H1 | |
| Ensembl | ENST00000370616 ENST00000370621 | |
| GeneID | 346007 | |
| KEGG | hsa:346007 | |
| CTD | 346007 | |
| GeneCards | GC06M064430 | |
| HGNC | HGNC:21555 | |
| HPA | HPA027103 | |
| MIM | 602772 612424 | |
| neXtProt | NX_Q5T1H1 | |
| eggNOG | prNOG12274 | |
| GeneTree | ENSGT00530000063501 | |
| InParanoid | Q5T1H1 | |
| PhylomeDB | Q5T1H1 | |
| NextBio | 125716 | |
| ArrayExpress | Q5T1H1 | |
| Bgee | Q5T1H1 | |
| Genevestigator | Q5T1H1 | |
| GO | GO:0005576 GO:0005509 GO:0050896 GO:0007601 | |
| InterPro | IPR008985 IPR013320 IPR006209 IPR006210 IPR001881 IPR013032 IPR000152 IPR000742 IPR018097 IPR001791 IPR012679 IPR012680 | |
| Gene3D | G3DSA:2.60.120.200 | |
| Pfam | PF00008 PF00054 PF02210 | |
| SMART | SM00181 SM00179 SM00282 | |
| SUPFAM | SSF49899 | |
| PROSITE | PS00010 PS00022 PS01186 PS50026 PS01187 PS50025 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0005509 |
calcium ion binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0005509 |
calcium ion binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0005576 |
extracellular region |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005576 |
extracellular region |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0243 |
C |
Seeded From UniProt |
|||
| GO:0007601 |
visual perception |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0050896 |
response to stimulus |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0050908 |
detection of light stimulus involved in visual perception |
IMP: Inferred from Mutant Phenotype |
P |
Figure 4 shows the constriction of the visual field in individuals affected with a homozygous p.Tyr3156X mutation in EYS and a non-recordable ERG or ERG responses in a rod-cone pattern. One patient (4C) also demonstrated a photoreceptor dystrophy. |
complete | |||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Collin RW et al. (2008) Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet 83: 594-603 PubMed GONUTS page
