NUP58: Nucleoporin 58
A key component of the nuclear pore complex involved in nucleocytoplasmic transport
Gene Information Card
| Symbol | NUP58 |
|---|---|
| Full Name | nucleoporin 58 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q12.13 |
| NCBI Gene ID | 9818 ncbi.nlm.nih.gov/gene/9818 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q9BVL2 |
| OMIM ID | 607615 |
| HGNC ID | 29911 |
| Aliases | NUPL1, NUP45, NUP58, hnupl1, 58 kDa nucleoporin |
Description
NUP58 (nucleoporin 58) encodes a component of the nuclear pore complex (NPC), specifically a subunit of the NUP62 complex. This protein is involved in nucleocytoplasmic transport, including mRNA export and protein import. It localizes to the central channel of the NPC and interacts with other nucleoporins to regulate transport selectivity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Altered NUP58 expression may disrupt nuclear transport, contributing to leukemogenesis | COSMIC; PMID: 23585768 |
| Breast cancer | NUP58 overexpression associated with poor prognosis and altered nucleocytoplasmic transport | COSMIC; PMID: 29158337 |
| Colorectal cancer | NUP58 mutations and copy number alterations observed in tumor samples | COSMIC; PMID: 26689913 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Bone marrow | 8.5 | Medium |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 12.8 | High expression |
| K562 | 10.5 | Medium expression |
| MCF7 | 9.1 | Medium expression |
| A549 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional impact |
| c.452A>G (p.Asn151Ser) | Missense | <0.01% | Unknown functional impact |
| c.784G>A (p.Glu262Lys) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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)
| • nuclear pore | • nucleocytoplasmic transport |
| • mRNA export from nucleus | • protein import into nucleus |
| • nuclear envelope |
Pathways
• Nuclear Pore Complex (NPC) assembly
• Nucleocytoplasmic transport
• mRNA surveillance pathway
Protein Summary
NUP58 is a 58 kDa nucleoporin that forms part of the central channel of the nuclear pore complex. It is essential for selective transport of macromolecules between the nucleus and cytoplasm. The protein contains a coiled-coil domain and interacts with NUP62 and other nucleoporins. NUP58 is ubiquitously expressed with higher levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUP58 Knockout HEK293 Cell Line | EDJ-KQ6760 | Human | 9818 | Details Get a Quote |
| NUP58 Knockout A-549 Cell Line | EDJ-KQ31192 | Human | 9818 | Details Get a Quote |
| NUP58 Knockout HCT 116 Cell Line | EDJ-KQ31193 | Human | 9818 | Details Get a Quote |
| NUP58 Knockout HeLa Cell Line | EDJ-KQ31194 | Human | 9818 | Details Get a Quote |
