NXF3 Gene: Nuclear RNA Export Factor 3
Comprehensive genomic and functional analysis of NXF3, a member of the nuclear RNA export factor family involved in mRNA transport.
Gene Information Card
| Symbol | NXF3 |
|---|---|
| Full Name | Nuclear RNA Export Factor 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 56000 ncbi.nlm.nih.gov/gene/56000 |
| Ensembl ID | ENSG00000147133 |
| UniProt ID | Q9H0D6 |
| OMIM ID | 300471 |
| HGNC ID | 8072 |
| Aliases | TAP-3, TAPL-3, NXF3 |
Description
NXF3 (Nuclear RNA Export Factor 3) is a protein-coding gene located on the X chromosome. It encodes a member of the nuclear RNA export factor family, which is involved in the transport of mRNA from the nucleus to the cytoplasm. NXF3 is specifically expressed in testis and may play a role in spermatogenesis. Unlike other NXF family members, NXF3 does not bind to the nuclear pore complex directly and may have a specialized function in RNA export.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | NXF3 mutations may impair mRNA export in spermatogenesis, leading to reduced sperm production | Limited evidence; case studies in OMIM and literature |
| Spermatogenic failure | Disruption of NXF3 function may cause defects in germ cell development | Inferred from expression pattern and functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 0.8 | Not detected |
| Prostate | 0.6 | Not detected |
| Ovary | 0.5 | Not detected |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.2 | Low expression |
| HeLa | 0.1 | Not detected |
| K562 | 0.0 | Not detected |
| MCF7 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Unknown | Potential loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | Missense | Unknown | Rare variant; functional impact not characterized |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations identified.
View complete mutation data：
Gene Ontology (GO)
| • mRNA export from nucleus (GO:0006406) | • nuclear pore complex binding (GO:0017056) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • RNA binding (GO:0003723) |
Pathways
• mRNA export pathway (Reactome: R-HSA-168273)
Protein Summary
The NXF3 protein is a 619-amino acid member of the nuclear RNA export factor family. It contains an N-terminal RNA-binding domain and a C-terminal domain that interacts with nucleoporins. Unlike NXF1 (TAP), NXF3 does not bind directly to the nuclear pore complex and is thought to function in a tissue-specific manner, primarily in testis. Its expression is restricted, suggesting a specialized role in mRNA export during spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NXF3 Knockout HEK293 Cell Line | EDJ-KQ14532 | Human | 56000 | Details Get a Quote |
| NXF3 Knockout HeLa Cell Line | EDJ-KQ56662 | Human | 56000 | Details Get a Quote |
| NXF3 Knockout A-549 Cell Line | EDJ-KQ65168 | Human | 56000 | Details Get a Quote |
| NXF3 Knockout HCT 116 Cell Line | EDJ-KQ73604 | Human | 56000 | Details Get a Quote |
