background:
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.
Function:
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.
Subunit:
Interacts with MAD1L1 and MAD2L1.
Subcellular Location:
Nucleus, nuclear pore complex. Nucleus membrane; Peripheral membrane protein; Cytoplasmic side. Chromosome, centromere, kinetochore. Note=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.
Tissue Specificity:
Highest in testis, lung, thymus, spleen and brain, lower levels in heart, liver and kidney.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
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.
Involved in tumorigenic rearrangements with the MET or RAF genes.
Database links:
Entrez Gene: 7175 Human
Entrez Gene: 108989 Mouse
Omim: 189940 Human
SwissProt: P12270 Human
SwissProt: F6ZDS4 Mouse
Unigene: 279128 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Involvement in disease;Defects in TPR are a cause of thyroid papillary carcinoma (TPC). 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.
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