NUP85: Nucleoporin 85 - Nuclear Pore Complex Component
Essential regulator of nuclear transport and cell cycle progression
Gene Information Card
| Symbol | NUP85 |
|---|---|
| Full Name | Nucleoporin 85 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 79902 ncbi.nlm.nih.gov/gene/79902 |
| Ensembl ID | ENSG00000125458 |
| UniProt ID | Q9BW27 |
| OMIM ID | 613716 |
| HGNC ID | 18738 |
| Aliases | NUP75, Nup85, FLJ12571, FLJ13085, FLJ20731 |
Description
NUP85 encodes nucleoporin 85, a component of the nuclear pore complex (NPC) that mediates nucleocytoplasmic transport. It is part of the Nup107-160 subcomplex, essential for NPC assembly and function. NUP85 is involved in cell cycle regulation, mRNA export, and signal transduction. Mutations in NUP85 are associated with steroid-resistant nephrotic syndrome (SRNS) and may contribute to cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Steroid-resistant nephrotic syndrome (SRNS) | Loss-of-function mutations impair nuclear pore assembly, disrupting podocyte function and leading to proteinuria | PMID: 25726036 |
| Nephrotic syndrome type 17 | Homozygous or compound heterozygous NUP85 mutations cause early-onset SRNS | OMIM: 618176 |
| Cancer (potential) | Altered NUP85 expression may affect nuclear transport and cell proliferation in various cancers | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Medium |
| Lung | 6.1 | Low |
| Brain | 5.4 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney cells |
| HeLa | 8.7 | Cervical cancer cells |
| K562 | 7.1 | Leukemia cells |
| A549 | 6.5 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.705G>A (p.Trp235*) | Nonsense | Rare | Loss of function; truncation of NUP85 |
| c.1576C>T (p.Arg526Trp) | Missense | Rare | Impaired NPC assembly |
| c.2023G>A (p.Gly675Arg) | Missense | Rare | Reduced nuclear transport efficiency |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; missense mutations disrupting NPC assembly
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • mRNA export | • protein transport |
| • cell cycle | • mitosis |
| • nuclear envelope |
Pathways
• Nuclear pore complex assembly
• Nucleocytoplasmic transport
• Cell cycle
• mitotic
Protein Summary
Nucleoporin 85 is a 75-85 kDa protein localized to the nuclear pore complex. It contains a beta-propeller domain and interacts with other nucleoporins to form the Nup107-160 subcomplex. This subcomplex is critical for NPC assembly, nuclear transport, and mitotic spindle formation. NUP85 is ubiquitously expressed with higher levels in testis and kidney.
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