葡萄糖神经酰胺转运蛋白ABCA12 (EC 7.6.2.1) (ATP结合盒亚家族A成员12) (ATP结合盒转运蛋白12) (ATP结合盒12)
葡萄糖神经酰胺转运蛋白ABCA12 (EC 7.6.2.1) (ATP结合盒亚家族A成员12) (ATP结合盒转运蛋白12) (ATP结合盒12)
Q86UK0功能描述
将脂质（如葡萄糖神经酰胺）从板层颗粒（LGs）膜的外小叶转运至内小叶，随后脂质经由反式高尔基网络和LGs最终被转运至角质形成细胞外周，并释放至颗粒层角质形成细胞的顶端表面，在表皮角质层形成脂质板层，这对于皮肤屏障功能至关重要 (PubMed:16007253, PubMed:20869849)。同时，参与板层颗粒相关蛋白水解酶的转运，进而调节脱屑和角质形成细胞分化 (PubMed:19179616)。此外，通过与NR1H2和ABCA1相互作用，调节巨噬细胞中ABCA1依赖性的胆固醇外流，对于调节细胞胆固醇稳态至关重要 (By similarity)。在调节β细胞的葡萄糖刺激胰岛素分泌、调节胰岛素颗粒的形态和融合、脂筏丰度以及肌动蛋白细胞骨架方面发挥多效性作用 (By similarity)。也参与肺表面活性物质的生物合成 (By similarity)。 {ECO:0000250|UniProtKB:E9Q876, ECO:0000269|PubMed:16007253, ECO:0000269|PubMed:19179616, ECO:0000269|PubMed:20869849}.
组织特异性
Mainly expressed in the stomach, placenta, testis and fetal brain (PubMed:12697999). Expressed in the upper epidermal layers, mainly the granular layers, of skin (PubMed:16007253, PubMed:17591952, PubMed:17927575). Expressed throughout the normal interfollicular epidermis with prominent expression in the stratum granulosum (PubMed:19179616). Expressed in alpha and beta cells of pancreatic islets (PubMed:32072744).
亚细胞定位
Cytoplasmic vesicle, secretory vesicle membrane
关键词