NXF1: Nuclear RNA Export Factor 1
Key mediator of mRNA nuclear export and potential biomarker in cancer and viral infections
Gene Information Card
| Symbol | NXF1 |
|---|---|
| Full Name | Nuclear RNA Export Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 10482 ncbi.nlm.nih.gov/gene/10482 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q9UBU9 |
| OMIM ID | 602491 |
| HGNC ID | 8010 |
| Aliases | TAP, MEX67 |
Description
NXF1 (Nuclear RNA Export Factor 1) encodes a protein that mediates the nuclear export of messenger RNA (mRNA) through the nuclear pore complex. It binds directly to RNA and interacts with the nuclear pore complex component NUP214. NXF1 is essential for bulk mRNA export and plays a role in the export of certain viral RNAs, including HIV-1. The gene is ubiquitously expressed and its dysregulation is implicated in cancer and viral pathogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | NXF1 overexpression may enhance mRNA export, promoting oncogene expression and tumor progression. | COSMIC; literature review |
| HIV-1 infection | NXF1 (TAP) mediates the nuclear export of unspliced HIV-1 RNA, essential for viral replication. | UniProt; literature review |
| Developmental disorders | Rare variants in NXF1 have been associated with intellectual disability and neurodevelopmental phenotypes. | ClinVar; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 18.2 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.4 | Low |
| Heart | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.3 | Cervical cancer cell line |
| K562 | 19.7 | Leukemia cell line |
| HEK293 | 15.4 | Embryonic kidney cell line |
| HepG2 | 11.2 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1135C>T (p.Arg379*) | Nonsense | <0.1% | Loss of function; predicted to cause nonsense-mediated decay |
| c.1526A>G (p.Gln509Arg) | Missense | <0.1% | Unknown significance; rare in population databases |
| c.2017G>A (p.Gly673Ser) | Missense | <0.1% | ClinVar: uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg379*) are predicted to cause loss of function via nonsense-mediated decay, potentially impairing mRNA export.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NXF1.
Dominant Negative (DN)
No dominant-negative mutations described for NXF1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006406 - mRNA export from nucleus | • GO:0005643 - nuclear pore |
| • GO:0003723 - RNA binding | • GO:0016973 - poly(A)+ mRNA export from nucleus |
| • GO:0005515 - protein binding |
Pathways
• mRNA export from nucleus (Reactome: R-HSA-159230)
• HIV-1 lifecycle (Reactome: R-HSA-162587)
• Transport of mature mRNA derived from an intron-containing transcript (Reactome: R-HSA-159236)
Protein Summary
The NXF1 protein, also known as TAP, is a 619-amino acid nuclear RNA export factor. It contains an N-terminal RNA-binding domain, a leucine-rich region, and a C-terminal domain that interacts with nucleoporins. NXF1 forms a heterodimer with NXT1 (p15) to facilitate mRNA transport through the nuclear pore. It is ubiquitously expressed and is critical for cellular mRNA export. NXF1 also mediates the export of retroviral RNAs, making it a target for antiviral strategies.
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