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VSX1 Q9NZR4

视觉系统同源盒蛋白 1 (同源结构域蛋白 RINX) (视网膜内核层同源盒蛋白) (转录因子 VSX1)

蛋白质信息 (UniProt)

视觉系统同源盒蛋白 1 (同源结构域蛋白 RINX) (视网膜内核层同源盒蛋白) (转录因子 VSX1)

Q9NZR4

功能描述

结合红/绿视色素基因簇基因座控制区(LCR)的37-bp核心序列(PubMed:10903837)。可能在发育早期调节LCR和视锥蛋白基因的活性(PubMed:10903837)。在早期视网膜发育中是非必需的(By similarity)。 {ECO:0000250|UniProtKB:Q91V10, ECO:0000269|PubMed:10903837}。

组织特异性

In the adult eye, expressed in lens, iris, ciliary body, choroid, optical nerve head and, most strongly, in retina, but not expressed in sclera and cornea. According to PubMed:11978762, expressed in adult retina but not in lens and cornea. Within adult retina, found exclusively in the inner nuclear layer. Isoform 1, isoform 2, isoform 3 and isoform 4 expressed in adult retina, but not in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. Not expressed in thymus and spleen. Expressed in embryonic craniofacial tissue. Expressed in fetal (week 14) retina. Strongly expressed in neonatal retina, weakly in neonatal lens, choroid and cornea (day 1, 4; month 9).

亚细胞定位

Nucleus

关键词

Alternative splicing Corneal dystrophy Developmental protein Disease variant DNA-binding Homeobox Nucleus Proteomics identification Reference proteome Sensory transduction