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RS1 O15537

视网膜劈裂蛋白 (X连锁青少年视网膜劈裂症蛋白)

蛋白质信息 (UniProt)

视网膜劈裂蛋白 (X连锁青少年视网膜劈裂症蛋白)

O15537

功能描述

结合带负电荷的膜脂,例如磷脂酰丝氨酸和磷酸肌醇 (By similarity)。可能在视网膜的细胞-细胞粘附过程中发挥作用,通过存在于两个相邻细胞表面的八聚体之间的同源相互作用 (PubMed:27114531)。为视网膜的正常结构和功能所必需 (PubMed:19093009)。 {ECO:0000250|UniProtKB:Q9Z1L4, ECO:0000269|PubMed:19093009, ECO:0000305|PubMed:27114531}。

组织特异性

Restricted to the retina (at protein level) (PubMed:10915776). Detected in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer (at protein level). At the macula, expressed in both the outer and inner nuclear layers and in the inner plexiform layer (at protein level) (PubMed:10915776). Detected in retina (PubMed:9326935). Detected only within the photoreceptor cell layer, most prominently within the inner segments of the photoreceptors (PubMed:10915776). Undetectable in the inner plexiform layers and the inner nuclear layer (PubMed:10915776).

亚细胞定位

Secreted

关键词

3D-structure Cell adhesion Cell membrane Disease variant Disulfide bond Lipid-binding Membrane Proteomics identification Reference proteome Secreted