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PKHD1 P08F94

纤维囊肿蛋白 (多囊肾和肝病1蛋白) (多导管蛋白) (Tigmin)

蛋白质信息 (UniProt)

纤维囊肿蛋白 (多囊肾和肝病1蛋白) (多导管蛋白) (Tigmin)

P08F94

功能描述

促进肾上皮细胞的纤毛发生,从而参与小管形成和/或确保肾腔结构的维持 (By similarity)。通过调节中心体复制和有丝分裂纺锤体组装确保正确的双极细胞分裂,并通过平面细胞极性 (PCP) 通路在管状延伸过程中维持定向细胞分裂 (OCD),从而影响细胞对称性 (PubMed:20554582)。在上皮细胞形态发生过程中,它还调节细胞-细胞和细胞-基质粘附并参与细胞运动 (By similarity)。通过正向调节PTK2激酶活性促进细胞-细胞接触,导致通过HRAS/RAF1通路正向调节上皮细胞增殖,或通过PDK1/AKT1通路负向调节细胞凋亡 (By similarity)。可能参与集合管和胆管的分化 (PubMed:11919560)。可能以依赖CXCL8的方式参与调节胆管细胞增殖和CCN2的产生 (PubMed:30898581)。 {ECO:0000250|UniProtKB:E2RK30, ECO:0000250|UniProtKB:E9PZ36, ECO:0000269|PubMed:11919560, ECO:0000269|PubMed:20554582, ECO:0000269|PubMed:30898581}.

组织特异性

Predominantly expressed in fetal and adult kidney. In the kidney, it is found in the cortical and medullary collecting ducts. Also present in the adult pancreas, but at much lower levels. Detectable in fetal and adult liver. Rather indistinct signal in fetal brain.

亚细胞定位

Cell membrane

关键词

Alternative splicing Cell membrane Cell projection Centromere Chromosome Ciliopathy Cilium Cytoplasm Cytoskeleton Disease variant