NPHP1 O15259

肾胱蛋白-1 (幼年型肾单位肾痨1蛋白)

功能描述

与BCAR1一起，可能在控制上皮细胞极性中发挥作用 (By similarity)。与NPHP4和RPGRIP1L/NPHP8一起参与肾细胞顶端连接的组织 (By similarity)。似乎并非纤毛发生所严格必需 (By similarity)。似乎有助于将PTK2B/PYK2募集到细胞基质粘附处，从而启动PTK2B/PYK2的磷酸化以及PTK2B/PYK2依赖的信号传导 (By similarity)。可能在纤毛组装过程中参与调节鞭毛内运输 (IFT)。正常视网膜发育所必需 (By similarity)。在连接光感受器纤毛中，影响某些IFT蛋白（如IFT88和WDR19）的运动。参与精子发生 (By similarity)。 {ECO:0000250|UniProtKB:Q9QY53}。

组织特异性

Widespread expression, with highest levels in pituitary gland, spinal cord, thyroid gland, testis, skeletal muscle, lymph node and trachea. Weakly expressed in heart, kidney and pancreas. Expressed in nasal epithelial cells (at protein level) (PubMed:16308564). Expressed in the renal collecting duct (at protein level) (PubMed:18477472).

亚细胞定位

Cell junction