Human Gene TPR (ENST00000367478.9) from GENCODE V44
Description: Homo sapiens translocated promoter region, nuclear basket protein (TPR), mRNA. (from RefSeq NM_003292) RefSeq Summary (NM_003292): This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000367478.9 Gencode Gene: ENSG00000047410.14 Transcript (Including UTRs) Position: hg38 chr1:186,311,652-186,375,253 Size: 63,602 Total Exon Count: 51 Strand: - Coding Region Position: hg38 chr1:186,313,971-186,375,028 Size: 61,058 Coding Exon Count: 51
ID:TPR_HUMAN DESCRIPTION: RecName: Full=Nucleoprotein TPR; 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. PTM: 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. DISEASE: Note=Involved in tumorigenic rearrangements with the MET or RAF genes. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TPRID282.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF07926 - TPR/MLP1/MLP2-like protein
ModBase Predicted Comparative 3D Structure on P12270
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006404 RNA import into nucleus GO:0006405 RNA export from nucleus GO:0006406 mRNA export from nucleus GO:0006606 protein import into nucleus GO:0006999 nuclear pore organization GO:0007049 cell cycle GO:0007094 mitotic spindle assembly checkpoint GO:0010965 regulation of mitotic sister chromatid separation GO:0015031 protein transport GO:0016032 viral process GO:0031453 positive regulation of heterochromatin assembly GO:0031990 mRNA export from nucleus in response to heat stress GO:0034605 cellular response to heat GO:0035457 cellular response to interferon-alpha GO:0042307 positive regulation of protein import into nucleus GO:0045947 negative regulation of translational initiation GO:0046827 positive regulation of protein export from nucleus GO:0046832 negative regulation of RNA export from nucleus GO:0051028 mRNA transport GO:0051301 cell division GO:0070849 response to epidermal growth factor GO:0090267 positive regulation of mitotic cell cycle spindle assembly checkpoint GO:0090316 positive regulation of intracellular protein transport GO:1901673 regulation of mitotic spindle assembly GO:0006611 protein export from nucleus GO:0010793 regulation of mRNA export from nucleus GO:0031647 regulation of protein stability GO:0042306 regulation of protein import into nucleus GO:0043578 nuclear matrix organization GO:0046825 regulation of protein export from nucleus GO:0051292 nuclear pore complex assembly
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