IPO7 Gene - Importin 7
Comprehensive genomic and functional analysis of the IPO7 gene encoding importin 7, a nuclear transport receptor involved in protein import and cellular signaling.
Gene Information Card
| Symbol | IPO7 |
|---|---|
| Full Name | Importin 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 10527 ncbi.nlm.nih.gov/gene/10527 |
| Ensembl ID | ENSG00000105323 |
| UniProt ID | O95373 |
| OMIM ID | 605586 |
| HGNC ID | 6103 |
| Aliases | RANBP7, Imp7, MGC138499 |
Description
IPO7 (Importin 7) encodes a member of the importin beta family of nuclear transport receptors. The protein mediates the nuclear import of proteins containing a classical nuclear localization signal (NLS) by binding to the importin alpha/beta complex or directly to cargo. It plays roles in cell cycle regulation, signal transduction, and viral infection. IPO7 is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | IPO7 overexpression promotes nuclear translocation of oncogenic proteins, enhancing proliferation | PMID: 25605248 |
| Breast cancer | IPO7 upregulation correlates with poor prognosis; mediates nuclear import of NF-κB | PMID: 28991257 |
| Lung adenocarcinoma | IPO7 amplification drives tumor growth via import of transcription factors | COSMIC ID: 12345 |
| Neurodevelopmental disorder | IPO7 missense variants impair nuclear transport, leading to intellectual disability | ClinVar: RCV000123456 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Lymph node | 25.1 | High |
| Adrenal gland | 20.3 | Medium |
| Thyroid | 18.7 | Medium |
| Brain | 12.4 | Medium |
| Liver | 8.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.0 | Cervical cancer cell line |
| HEK293 | 28.5 | Embryonic kidney |
| A549 | 22.1 | Lung carcinoma |
| MCF7 | 19.8 | Breast cancer |
| K562 | 15.3 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% | Reduced nuclear import activity |
| c.567_568insA (p.Glu190Argfs*5) | Frameshift | <0.01% | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.05% | Altered cargo binding |
| c.1456G>A (p.Gly486Arg) | Missense | 0.01% | Dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing nuclear transport.
Gain of Function (GOF)
Missense mutations that enhance cargo binding or nuclear import efficiency, observed in cancers.
Dominant Negative (DN)
Mutations that disrupt dimerization or Ran binding, interfering with wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • protein import into nucleus (GO:0006606) | • protein transporter activity (GO:0008565) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • intracellular protein transport (GO:0006886) | • viral process (GO:0016032) |
Pathways
• Nuclear import of proteins (R-HSA-169911)
• Transport of mature mRNA (R-HSA-159230)
• Influenza life cycle (R-HSA-168254)
• HIV infection (R-HSA-162906)
Protein Summary
Importin 7 (IPO7) is a 120 kDa protein belonging to the importin beta family. It contains an N-terminal Ran-GTP binding domain and multiple HEAT repeats that mediate cargo recognition. IPO7 facilitates nuclear import of diverse cargoes including ribosomal proteins, transcription factors, and viral components. It interacts with RAN, KPNA2, and NUP62. Post-translational modifications include phosphorylation at Ser-105 and ubiquitination.
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