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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 AL354719 AL590546 AL590784 AL353153 AL355357 AL356454 AL357375 AL365217 AL109612 AL132767 AL589916 AL450319 AL450324 AL450394 AL109922 AL137007 AL450324 AL589916 AL109612 AL132767 AL365217 AL590546 AL354913 AL354719 AL590784 AL590784 AL354913 AL354719 AL590546 AL603767 BC133011 BC133013 | |
| CCDS | CCDS47445.1 CCDS47446.1 CCDS4967.1 | |
| RefSeq | NP_001136272.1 NP_001136273.1 NP_001278938.1 NP_938024.1 | |
| UniGene | Hs.25067 | |
| ProteinModelPortal | Q5T1H1 | |
| IntAct | Q5T1H1 | |
| PhosphoSite | Q5T1H1 | |
| DMDM | 338817908 | |
| PaxDb | Q5T1H1 | |
| PRIDE | Q5T1H1 | |
| Ensembl | ENST00000342421 ENST00000370616 ENST00000370618 ENST00000370621 ENST00000393380 ENST00000503581 | |
| GeneID | 346007 | |
| KEGG | hsa:346007 | |
| UCSC | uc003per.1 uc011dxt.1 uc011dxu.1 | |
| CTD | 346007 | |
| GeneCards | GC06M064430 | |
| GeneReviews | EYS | |
| H-InvDB | HIX0025090 | |
| HGNC | HGNC:21555 | |
| HPA | HPA027103 HPA036712 | |
| MIM | 602772 612424 | |
| neXtProt | NX_Q5T1H1 | |
| Orphanet | 791 | |
| PharmGKB | PA164719488 | |
| eggNOG | NOG12793 | |
| GeneTree | ENSGT00530000063501 | |
| InParanoid | Q5T1H1 | |
| OMA | EITHAND | |
| OrthoDB | EOG79PJN9 | |
| PhylomeDB | Q5T1H1 | |
| TreeFam | TF317565 | |
| ChiTaRS | EYS | |
| GenomeRNAi | 346007 | |
| NextBio | 98921 | |
| PRO | PR:Q5T1H1 | |
| Proteomes | UP000005640 | |
| Bgee | Q5T1H1 | |
| ExpressionAtlas | Q5T1H1 | |
| Genevestigator | Q5T1H1 | |
| GO | GO:0070062 GO:0005509 GO:0050908 GO:0043403 | |
| Gene3D | 2.60.120.200 | |
| InterPro | IPR013320 IPR000742 IPR001881 IPR013032 IPR000152 IPR018097 IPR009030 IPR001791 | |
| Pfam | PF00008 PF00054 PF02210 | |
| SMART | SM00181 SM00179 SM00282 | |
| SUPFAM | SSF49899 SSF57184 | |
| PROSITE | PS00010 PS00022 PS01186 PS50026 PS01187 PS50025 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
| GO:0050908 |
detection of light stimulus involved in visual perception |
ECO:0000315 |
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 | |||||
|
involved_in |
GO:0050908 |
detection of light stimulus involved in visual perception |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0070062 |
extracellular exosome |
ECO:0007005 |
high throughput direct assay evidence used in manual assertion |
C |
part_of:(UBERON:0001088) |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0050908 |
detection of light stimulus involved in visual perception |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0050908 |
detection of light stimulus involved in visual perception |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0050908 |
detection of light stimulus involved in visual perception |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0050908 |
detection of light stimulus involved in visual perception |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0043403 |
skeletal muscle tissue regeneration |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0003674 |
molecular_function |
ECO:0000307 |
no biological data found used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0005509 |
calcium ion binding |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005737 |
cytoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0042995 |
cell projection |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005856 |
cytoskeleton |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0007601 |
visual perception |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005576 |
extracellular region |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0050896 |
response to stimulus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0001750 |
photoreceptor outer segment |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005929 |
cilium |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0033165 |
interphotoreceptor matrix |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005815 |
microtubule organizing center |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 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
- ↑ Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page
- ↑ Abd El-Aziz, MM et al. (2008) EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat. Genet. 40 1285-7 PubMed GONUTS page
- ↑ Huang, Y et al. (2010) Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa. BMC Med. Genet. 11 121 PubMed GONUTS page
- ↑ Hosono, K et al. (2012) Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population. PLoS ONE 7 e31036 PubMed GONUTS page
- ↑ Isackson, PJ et al. (2011) Association of common variants in the human eyes shut ortholog (EYS) with statin-induced myopathy: evidence for additional functions of EYS. Muscle Nerve 44 531-8 PubMed GONUTS page
