TPR Gene (Translocated Promoter Region, Nuclear Basket Protein)
A comprehensive biomedical SEO resource for the TPR gene, including genomic annotation, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | TPR |
|---|---|
| Full Name | Translocated Promoter Region, Nuclear Basket Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1q31.1 |
| NCBI Gene ID | 7175 ncbi.nlm.nih.gov/gene/7175 |
| Ensembl ID | ENSG00000198910 |
| UniProt ID | P12270 |
| OMIM ID | 189940 |
| HGNC ID | 12003 |
| Aliases | MLLT4, TPRN, NUP265, KIAA1383 |
Description
The TPR gene encodes a large coiled-coil protein that is a component of the nuclear pore complex (NPC), specifically forming the nuclear basket. TPR is involved in nucleocytoplasmic transport, mitotic spindle assembly, and telomere maintenance. It is frequently involved in chromosomal rearrangements with other genes, such as ALK, MET, and NTRK1, leading to oncogenic fusion proteins in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thyroid Papillary Carcinoma | TPR-NTRK1 fusion results in constitutive activation of NTRK1 kinase, driving cell proliferation. | PMID: 1282669; COSMIC |
| Inflammatory Myofibroblastic Tumor | TPR-ALK fusion leads to constitutive ALK kinase activation. | PMID: 10521396; COSMIC |
| Esophageal Squamous Cell Carcinoma | TPR-MET fusion produces a constitutively active MET kinase. | PMID: 10666364; COSMIC |
| Colorectal Cancer | TPR rearrangements (e.g., TPR-ALK) reported in rare cases. | PMID: 28263393; COSMIC |
| Acute Myeloid Leukemia | TPR rearrangements involving MLLT4 (alias) contribute to leukemogenesis. | PMID: 7595206; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Lymph node | 37.5 | High |
| Spleen | 36.1 | High |
| Bone marrow | 32.8 | High |
| Brain | 25.4 | Medium |
| Liver | 18.7 | Medium |
| Heart | 15.3 | Medium |
| Kidney | 12.1 | Medium |
| Lung | 10.5 | Medium |
| Pancreas | 8.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 42.1 | Leukemia cell line |
| HeLa | 38.5 | Cervical carcinoma |
| A549 | 35.2 | Lung carcinoma |
| HEK 293 | 33.0 | Embryonic kidney |
| MCF7 | 29.8 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| TPR-NTRK1 fusion | Structural variant | Rare | Constitutive NTRK1 activation; oncogenic |
| TPR-ALK fusion | Structural variant | Rare | Constitutive ALK activation; oncogenic |
| TPR-MET fusion | Structural variant | Rare | Constitutive MET activation; oncogenic |
| Missense (e.g., p.Arg1697Cys) | Missense | <0.1% | Unknown significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; loss of TPR may impair nuclear transport and mitotic fidelity.
Gain of Function (GOF)
Fusion proteins (TPR-NTRK1, TPR-ALK, TPR-MET) exhibit gain-of-function via constitutive kinase activation.
Dominant Negative (DN)
Not reported for TPR.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • protein binding | • mitotic spindle assembly |
| • telomere maintenance | • mRNA export from nucleus |
Pathways
• Nuclear pore complex (NPC) assembly
• Transport of mature mRNA to cytoplasm
• Signaling by NTRK fusions
• Signaling by ALK fusions
• Signaling by MET fusions
Protein Summary
TPR is a 2,363-amino acid protein (UniProt P12270) that forms a homodimeric coiled-coil structure. It localizes to the nuclear basket of the nuclear pore complex, where it interacts with transport receptors and other NPC components. TPR is essential for proper nuclear export of mRNA and protein import. Its N-terminal domain mediates oligomerization, while the C-terminal domain binds to the NPC scaffold. Chromosomal rearrangements involving TPR produce oncogenic fusions that drive tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPRG1L Knockout HEK293 Cell Line | EDJ-KQ9026 | Human | 127262 | Details Get a Quote |
| TPRA1 Knockout HEK293 Cell Line | EDJ-KQ9272 | Human | 131601 | Details Get a Quote |
| TPRKB Knockout HEK293 Cell Line | EDJ-KQ10863 | Human | 51002 | Details Get a Quote |
| TPRG1 Knockout HEK293 Cell Line | EDJ-KQ15896 | Human | 285386 | Details Get a Quote |
| TPRN Knockout HEK293 Cell Line | EDJ-KQ15897 | Human | 286262 | Details Get a Quote |
| TPRX1 Knockout HEK293 Cell Line | EDJ-KQ15898 | Human | 284355 | Details Get a Quote |
| TPRX2 Knockout HEK293 Cell Line | EDJ-KQ15899 | Human | 503627 | Details Get a Quote |
| TPRG1 Knockout HCT 116 Cell Line | EDJ-KQ49118 | Human | 285386 | Details Get a Quote |
| TPRN Knockout HCT 116 Cell Line | EDJ-KQ49119 | Human | 286262 | Details Get a Quote |
| TPRN Knockout HeLa Cell Line | EDJ-KQ49120 | Human | 286262 | Details Get a Quote |
| TPRX2 Knockout A-549 Cell Line | EDJ-KQ49121 | Human | 503627 | Details Get a Quote |
| TPRX2 Knockout HCT 116 Cell Line | EDJ-KQ49122 | Human | 503627 | Details Get a Quote |
| TPRX2 Knockout HeLa Cell Line | EDJ-KQ49123 | Human | 503627 | Details Get a Quote |
| TPRA1 Knockout HeLa Cell Line | EDJ-KQ18258 | Human | 131601 | Details Get a Quote |
| TPRG1L Knockout A-549 Cell Line | EDJ-KQ35464 | Human | 127262 | Details Get a Quote |
