NXT1: Nuclear RNA Export Factor 1
Key regulator of mRNA nuclear export and cellular homeostasis
Gene Information Card
| Symbol | NXT1 |
|---|---|
| Full Name | Nuclear RNA Export Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p11.23 |
| NCBI Gene ID | 29107 ncbi.nlm.nih.gov/gene/29107 |
| Ensembl ID | ENSG00000101442 |
| UniProt ID | Q9UKK6 |
| OMIM ID | 605812 |
| HGNC ID | 18003 |
| Aliases | MTR2, NXF2, p15-2 |
Description
NXT1 (Nuclear RNA Export Factor 1) encodes a protein that functions as a heterodimeric partner with NXF1 (TAP) to mediate the nuclear export of mRNA. It binds to NXF1 and stabilizes the NXF1-RNA interaction, facilitating translocation through the nuclear pore complex. NXT1 is essential for efficient mRNA export and plays a role in cellular growth and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered NXT1 expression may disrupt mRNA export, affecting oncogene/tumor suppressor mRNA localization | COSMIC, literature |
| Neurodevelopmental disorders | Potential role via mRNA export defects in neurons | Literature, limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 12.5 | Moderate expression |
| K562 | 10.0 | Moderate expression |
| HepG2 | 8.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.100C>T | Synonymous | <0.01% | No protein change |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • protein binding (GO:0005515) |
| • mRNA export from nucleus (GO:0006406) | • nuclear pore (GO:0005643) |
| • cytoplasm (GO:0005737) |
Pathways
• mRNA export from nucleus (Reactome: R-HSA-159230)
• Transport of mature mRNA (Reactome: R-HSA-159231)
Protein Summary
NXT1 is a 15 kDa protein (140 amino acids) that belongs to the NXT family. It contains a nuclear export signal and forms a heterodimer with NXF1. The NXT1-NXF1 complex binds to RNA and the nuclear pore complex, mediating the translocation of mRNA from the nucleus to the cytoplasm. NXT1 is ubiquitously expressed with highest levels in testis and lymphoid tissues.
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