機能Component of the cytoplasmic fibrils of the nuclear pore complex implicated in nuclear protein import. Its N-terminus is involved in activation of oncogenic kinases. Plays a role in the mitotic spindle checkpoint.
組織特異性Highest in testis, lung, thymus, spleen and brain, lower levels in heart, liver and kidney.
関連疾患Defects in TPR are a cause of thyroid papillary carcinoma (TPC) [MIM:188550]. TPC is a common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=Chromosomal aberrations involving TPR are found in thyroid papillary carcinomas. Intrachromosomal rearrangement that links the 5'-end of the TPR gene to the protein kinase domain of NTRK1 forms the fusion protein TRK-T1. TRK-T1 is a 55 kDa protein reacting with antibodies against the carboxy terminus of the NTRK1 protein. Note=Involved in tumorigenic rearrangements with the MET or RAF genes.
翻訳後修飾Phosphorylated upon DNA damage, probably by ATM or ATR.
細胞内局在Nucleus > nuclear pore complex. Nucleus membrane. Chromosome > centromere > kinetochore. The assembly of the NPC is a stepwise process in which Trp-containing peripheral structures assemble after other components, including p62. Detected at kinetochores during prometaphase.