XPO1 (Exportin 1) Gene
A key nuclear export receptor involved in nucleocytoplasmic transport, frequently mutated in cancer.
Gene Information Card
| Symbol | XPO1 |
|---|---|
| Full Name | Exportin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p15 |
| NCBI Gene ID | 7514 ncbi.nlm.nih.gov/gene/7514 |
| Ensembl ID | ENSG00000082898 |
| UniProt ID | O14980 |
| OMIM ID | 602559 |
| HGNC ID | 12825 |
| Aliases | CRM1, emb, exp1, Exportin-1 |
Description
XPO1 (exportin 1, also known as CRM1) encodes a key nuclear export receptor that mediates the transport of proteins and RNAs containing a leucine-rich nuclear export signal (NES) from the nucleus to the cytoplasm. It is essential for cellular homeostasis and is frequently mutated or overexpressed in various cancers, including chronic lymphocytic leukemia and solid tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic lymphocytic leukemia (CLL) | Recurrent somatic mutations (e.g., E571K) in XPO1 alter substrate specificity, leading to mislocalization of tumor suppressors and oncoproteins. | COSMIC, ClinVar |
| Multiple myeloma | XPO1 overexpression and mutations contribute to drug resistance and poor prognosis. | COSMIC, ClinVar |
| Primary mediastinal B-cell lymphoma | XPO1 mutations are recurrent and associated with aberrant nuclear export. | COSMIC |
| Hepatocellular carcinoma | XPO1 overexpression correlates with metastasis and reduced survival. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 28.5 | High |
| Bone marrow | 25.3 | High |
| Spleen | 22.1 | High |
| Lung | 15.8 | Medium |
| Liver | 12.4 | Medium |
| Brain | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 30.1 | Cervical cancer cell line |
| K562 | 27.8 | Leukemia cell line |
| A549 | 20.5 | Lung cancer cell line |
| MCF7 | 18.3 | Breast cancer cell line |
| HepG2 | 15.9 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| E571K | Missense | Recurrent in CLL, mantle cell lymphoma | Alters NES recognition, gain-of-function |
| D624G | Missense | Rare | Unknown functional impact |
| R749C | Missense | Rare | Potential loss of function |
| S391F | Missense | Rare | Reported in solid tumors |
Mutation functional classification
Loss of Function (LOF)
Rare mutations (e.g., R749C) may impair nuclear export activity.
Gain of Function (GOF)
E571K is a well-characterized gain-of-function mutation that enhances export of specific cargoes.
Dominant Negative (DN)
Not clearly established for XPO1 mutations.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005049 - nuclear export signal receptor activity | • GO:0008536 - Ran GTPase binding |
| • GO:0006606 - protein import into nucleus | • GO:0015031 - protein transport |
| • GO:0051168 - nuclear export | • GO:0005634 - nucleus |
| • GO:0005737 - cytoplasm |
Pathways
• Nuclear export of proteins (NES-dependent)
• CRM1-mediated nuclear export of HIV-1 Rev
• Regulation of p53 activity through nuclear export
• Export of ribosomal subunits
Protein Summary
Exportin 1 (XPO1, CRM1) is a 1071-amino acid protein that functions as a nuclear export receptor. It recognizes leucine-rich nuclear export signals (NES) on cargo proteins and, in complex with RanGTP, transports them through the nuclear pore complex to the cytoplasm. XPO1 is critical for the subcellular localization of tumor suppressors (e.g., p53, p27, APC) and oncoproteins (e.g., c-Myc, cyclin D1). Mutations, particularly E571K, are recurrent in lymphoid malignancies and confer altered cargo specificity, contributing to oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XPO1 Knockout HEK293 Cell Line | EDC07601 | Human | 7514 | Details Get a Quote |
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