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EYS
Required to maintain the integrity of photoreceptor cells. Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone. Belongs to the EYS family. 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). 4 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Secreted; Secreted, signal peptide |
| Chromosomal Location of human Ortholog: 6q12 |
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Cellular Component:
cytoplasm; interphotoreceptor matrix; microtubule organizing center; photoreceptor outer segment
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Molecular Function:
calcium ion binding
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Biological Process:
detection of light stimulus involved in visual perception; skeletal muscle tissue regeneration
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Disease: Retinitis Pigmentosa 25
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Reference #:
Q5T1H1
(UniProtKB)
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Alt. Names/Synonyms: bA166P24.2; bA307F22.3; bA74E24.1; C6orf178; C6orf179; C6orf180; dJ1018A4.2; dJ22I17.2; dJ303F19.1; EGF-like protein 10; EGF-like protein 11; EGF-like-domain, multiple 10; EGF-like-domain, multiple 11; EGFL10; EGFL11; Epidermal growth factor-like protein 10; Epidermal growth factor-like protein 11; eyes shut homolog; EYS; Protein eyes shut homolog; Protein spacemaker homolog; RP25; SPAM
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Gene Symbols: EYS
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Molecular weight:
350,796 Da
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Basal Isoelectric point:
5.5
Predict pI for various phosphorylation states
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