NUP43
Nucleoporin 43: A Component of the Nuclear Pore Complex
Gene Information Card
| Symbol | NUP43 |
|---|---|
| Full Name | nucleoporin 43 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q25.1 |
| NCBI Gene ID | 348995 ncbi.nlm.nih.gov/gene/348995 |
| Ensembl ID | ENSG00000120253 |
| UniProt ID | Q8N1F7 |
| OMIM ID | 608141 |
| HGNC ID | 29926 |
| Aliases | bA350J20.1, FLJ12649, MGC117188, p43 |
Description
NUP43 (nucleoporin 43) encodes a 43 kDa protein that is a component of the nuclear pore complex (NPC). The NPC mediates nucleocytoplasmic transport of macromolecules. NUP43 is part of the Nup107-160 subcomplex, which is essential for NPC assembly and function. The gene is located on chromosome 6q25.1.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression of NUP43 may disrupt nuclear transport, affecting cell cycle and proliferation. | NCBI Gene, COSMIC |
| Ovarian cancer | NUP43 is part of a gene signature associated with poor prognosis. | NCBI Gene, PubMed (via NCBI) |
| Breast cancer | NUP43 overexpression correlates with tumor progression. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Bone marrow | 10.9 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | Embryonic kidney cells |
| HeLa | 12.3 | Cervical cancer cells |
| K562 | 11.0 | Leukemia cells |
| MCF7 | 9.8 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown significance |
| c.100C>T | missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar.
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 |
| • protein transport | • mRNA transport |
| • nuclear envelope |
Pathways
• Nuclear Pore Complex (NPC) assembly
• Nucleocytoplasmic transport
• Cell cycle
Protein Summary
NUP43 is a 43 kDa nucleoporin that localizes to the nuclear pore complex. It is a structural component of the Nup107-160 subcomplex, which is required for NPC assembly and proper nucleocytoplasmic transport. The protein contains a beta-propeller domain and is involved in cell cycle regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
