NUP35
Nucleoporin 35
Gene Information Card
| Symbol | NUP35 |
|---|---|
| Full Name | nucleoporin 35 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q32.1 |
| NCBI Gene ID | 129401 ncbi.nlm.nih.gov/gene/129401 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q8NFH5 |
| OMIM ID | 608140 |
| HGNC ID | 18444 |
| Aliases | NUP53, NP_612116.1 |
Description
NUP35 encodes nucleoporin 35, a component of the nuclear pore complex (NPC) that regulates nucleocytoplasmic transport. The protein is localized to the nuclear envelope and interacts with other nucleoporins to maintain NPC structure and function. NUP35 is involved in cell cycle progression and mRNA export.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered NUP35 expression may disrupt nuclear transport, contributing to tumorigenesis. | COSMIC; literature |
| Developmental disorders | Mutations in NUP35 may impair NPC assembly, leading to cellular dysfunction. | ClinVar; literature |
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 |
|---|---|---|
| HEK293 | 10.3 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.4 | Low expression |
| MCF7 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
| c.200G>A | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
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 transport |
| • nuclear envelope |
Pathways
• Nuclear Pore Complex (NPC) assembly
• mRNA surveillance pathway
• Cell cycle
Protein Summary
Nucleoporin 35 is a 35 kDa protein that forms part of the inner ring of the nuclear pore complex. It contains a conserved N-terminal domain and a C-terminal region that mediates interactions with other nucleoporins. NUP35 is essential for NPC integrity and selective transport of macromolecules across the nuclear envelope.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUP35 Knockout HEK293 Cell Line | EDJ-KQ9214 | Human | 129401 | Details Get a Quote |
| NUP35 Knockout HCT 116 Cell Line | EDJ-KQ35778 | Human | 129401 | Details Get a Quote |
| NUP35 Knockout HeLa Cell Line | EDJ-KQ35779 | Human | 129401 | Details Get a Quote |
| NUP35 Knockout A-549 Cell Line | EDJ-KQ66748 | Human | 129401 | Details Get a Quote |
