ADP核糖基化因子样蛋白6 (Bardet-Biedl综合征3蛋白)
ADP核糖基化因子样蛋白6 (Bardet-Biedl综合征3蛋白)
Q9H0F7功能描述
参与纤毛细胞器基部的膜蛋白运输。介导BBSome复合物在质膜上的募集，该复合物构成将特定膜蛋白分选至初级纤毛所需的外被复合物 (PubMed:20603001)。与BBS1一起，是PKD1正确运输至初级纤毛所必需的 (By similarity)。与BBSome复合物和LTZL1一起，控制SMO的纤毛运输并有助于音猬因子 (SHH) 通路调节 (PubMed:22072986)。可能调节纤毛组装和解聚以及随后的纤毛信号事件，如Wnt信号级联反应 (PubMed:20207729)。Isoform 2可能是正常视网膜功能和组织所必需的 (By similarity)。 {ECO:0000250|UniProtKB:O88848, ECO:0000269|PubMed:20207729, ECO:0000269|PubMed:20603001, ECO:0000269|PubMed:22072986}。
亚细胞定位
Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Note=Appears in a pattern of punctae flanking the microtubule axoneme that likely correspond to small membrane-associated patches. Localizes to the so-called ciliary gate where vesicles carrying ciliary cargo fuse with the membrane.
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