NUP188: Nucleoporin 188 and Its Role in Nuclear Pore Complex Function
A comprehensive overview of NUP188, a key component of the nuclear pore complex, including its genomic context, expression, associated diseases, and mutational landscape.
Gene Information Card
| Symbol | NUP188 |
|---|---|
| Full Name | nucleoporin 188 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 23511 ncbi.nlm.nih.gov/gene/23511 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q5SRE5 |
| OMIM ID | 618570 |
| HGNC ID | 17859 |
| Aliases | KIAA0169, hNup188 |
Description
NUP188 encodes a 188 kDa nucleoporin that is a structural component of the nuclear pore complex (NPC). It is located on the inner ring of the NPC and contributes to the selective transport of macromolecules between the nucleus and cytoplasm. NUP188 interacts with other nucleoporins to maintain NPC integrity and is involved in cell cycle regulation and chromatin organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered NUP188 expression may disrupt nuclear transport, affecting tumor suppressor and oncogene localization. | NCBI Gene, COSMIC |
| Breast cancer | NUP188 mutations and copy number alterations are observed, potentially influencing nucleocytoplasmic transport of key signaling molecules. | COSMIC, ClinVar |
| Hepatocellular carcinoma | NUP188 overexpression correlates with poor prognosis and may promote cell proliferation via NPC dysfunction. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 7.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| HEK293 | 8.7 | Embryonic kidney cells |
| HepG2 | 7.9 | Hepatocellular carcinoma cells |
| MCF7 | 6.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncated protein likely degraded |
| c.2567A>G (p.Asn856Ser) | Missense | <0.1% | Unknown; may alter protein stability |
| c.3456_3457insA (p.Glu1153fs) | Frameshift | <0.1% | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in NUP188 are predicted to cause loss of function, leading to truncated or unstable protein, which may impair NPC assembly and nuclear transport.
Gain of Function (GOF)
No gain-of-function mutations have been reported for NUP188.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for NUP188.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • protein transport | • mRNA transport |
| • cell cycle |
Pathways
• Nuclear Pore Complex (NPC) Assembly
• Nucleocytoplasmic Transport
• Cell Cycle
• Mitotic
Protein Summary
NUP188 is a 188 kDa nucleoporin that localizes to the inner ring of the nuclear pore complex. It forms part of the structural scaffold and is essential for proper NPC function, including selective transport of proteins and RNAs. The protein contains multiple beta-propeller domains and interacts with other nucleoporins such as NUP93 and NUP205. NUP188 is evolutionarily conserved and plays a role in mitotic spindle assembly and chromatin organization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUP188 Knockout HEK293 Cell Line | EDJ-KQ8039 | Human | 23511 | Details Get a Quote |
| NUP188 Knockout A-549 Cell Line | EDJ-KQ33832 | Human | 23511 | Details Get a Quote |
| NUP188 Knockout HCT 116 Cell Line | EDJ-KQ33833 | Human | 23511 | Details Get a Quote |
| NUP188 Knockout HeLa Cell Line | EDJ-KQ33834 | Human | 23511 | Details Get a Quote |
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