XPOT (Exportin for tRNA)
A key nuclear export receptor for tRNAs, involved in cellular RNA trafficking and linked to cancer and developmental disorders.
Gene Information Card
| Symbol | XPOT |
|---|---|
| Full Name | Exportin for tRNA |
| Gene Type | Protein coding |
| Chromosomal Location | 12q14.2 |
| NCBI Gene ID | 11260 ncbi.nlm.nih.gov/gene/11260 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | O43592 |
| OMIM ID | 603180 |
| HGNC ID | 12825 |
| Aliases | XPO3, Exp3, KIAA0629 |
Description
The XPOT gene encodes exportin for tRNA (also known as exportin-T), a member of the importin beta family of nuclear transport receptors. XPOT specifically mediates the nuclear export of tRNAs in a RanGTP-dependent manner. It binds directly to mature tRNAs and facilitates their translocation from the nucleus to the cytoplasm, a critical step for protein synthesis. XPOT is ubiquitously expressed and plays roles in cell growth, differentiation, and stress response. Dysregulation of XPOT has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered XPOT expression may disrupt tRNA nuclear export, affecting translation efficiency and cell proliferation. | COSMIC; literature |
| Developmental disorders | Mutations in XPOT may impair tRNA export, leading to cellular stress and developmental abnormalities. | ClinVar; OMIM |
| Intellectual disability | Rare variants in XPOT have been associated with neurodevelopmental phenotypes. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Thyroid | 18.2 | High |
| Adrenal gland | 15.1 | Medium |
| Lung | 12.3 | Medium |
| Liver | 10.8 | Medium |
| Brain | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.1 | High expression |
| HeLa | 19.7 | High expression |
| K562 | 14.5 | Medium expression |
| HepG2 | 12.0 | Medium expression |
| A549 | 10.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1073C>T (p.Pro358Leu) | Missense | <0.01% | Unknown; predicted damaging |
| c.1546G>A (p.Gly516Arg) | Missense | <0.01% | Unknown; predicted damaging |
| c.1960_1961insA (p.Thr654Asnfs*2) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of tRNA export activity.
Gain of Function (GOF)
Not reported for XPOT.
Dominant Negative (DN)
Not reported for XPOT.
View complete mutation data：
Gene Ontology (GO)
| • nuclear export signal receptor activity (GO:0005049) | • Ran GTPase binding (GO:0008536) |
| • tRNA export from nucleus (GO:0000054) | • protein import into nucleus (GO:0006606) |
| • nucleus (GO:0005634) | • cytosol (GO:0005829) |
Pathways
• tRNA export from nucleus (Reactome: R-HSA-159230)
• Nuclear import/export (Reactome: R-HSA-199991)
Protein Summary
Exportin for tRNA (XPOT) is a 962-amino acid protein belonging to the importin beta family. It contains a RanGTP-binding domain and a tRNA-binding domain. XPOT forms a ternary complex with RanGTP and mature tRNA in the nucleus, then translocates through the nuclear pore complex to the cytoplasm, where GTP hydrolysis releases the tRNA. The protein is essential for maintaining cellular tRNA homeostasis and translation efficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XPOT Knockout HEK293 Cell Line | EDJ-KQ51059 | Human | 11260 | Details Get a Quote |
| XPOT Knockout HeLa Cell Line | EDJ-KQ55617 | Human | 11260 | Details Get a Quote |
| XPOT Knockout A-549 Cell Line | EDJ-KQ64116 | Human | 11260 | Details Get a Quote |
| XPOT Knockout HCT 116 Cell Line | EDJ-KQ72561 | Human | 11260 | Details Get a Quote |
