NUP93: Nucleoporin 93 - A Key Component of the Nuclear Pore Complex
Essential for nuclear transport, cell cycle regulation, and linked to steroid-resistant nephrotic syndrome and cancer
Gene Information Card
| Symbol | NUP93 |
|---|---|
| Full Name | Nucleoporin 93 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q13 |
| NCBI Gene ID | 9688 ncbi.nlm.nih.gov/gene/9688 |
| Ensembl ID | ENSG00000102938 |
| UniProt ID | Q8N1F7 |
| OMIM ID | 614351 |
| HGNC ID | 29958 |
| Aliases | KIAA0095, NUP93-1, NUP93-2 |
Description
NUP93 encodes nucleoporin 93, a component of the nuclear pore complex (NPC) that regulates nucleocytoplasmic transport. It is essential for NPC assembly, nuclear envelope integrity, and cell cycle progression. Mutations in NUP93 cause steroid-resistant nephrotic syndrome (SRNS) and are implicated in cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Steroid-resistant nephrotic syndrome (SRNS) | Loss-of-function mutations impair NPC assembly in podocytes, disrupting nuclear transport and leading to proteinuria | PMID: 31062077, ClinVar |
| Hepatocellular carcinoma | Overexpression of NUP93 promotes cell proliferation and migration via altered nuclear transport | PMID: 31525634 |
| Acute myeloid leukemia (AML) | NUP93 fusions (e.g., NUP93-NSD1) drive leukemogenesis through aberrant chromatin regulation | PMID: 28341788 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Testis | 15.1 | High |
| Lung | 7.2 | Medium |
| Brain | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HepG2 | 9.8 | Medium expression |
| K562 | 11.5 | Medium expression |
| A549 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1772G>A (p.Arg591Gln) | Missense | Rare | Impaired NPC assembly; associated with SRNS |
| c.1630C>T (p.Arg544Trp) | Missense | Rare | Reduced nuclear transport; SRNS |
| NUP93-NSD1 fusion | Gene fusion | Somatic | Oncogenic in AML |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; SRNS |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations in NUP93 cause loss of function by disrupting NPC assembly and nuclear transport, leading to SRNS.
Gain of Function (GOF)
Overexpression of wild-type NUP93 in hepatocellular carcinoma may confer a gain-of-function effect by enhancing cell proliferation.
Dominant Negative (DN)
Some missense mutations (e.g., Arg591Gln) may act in a dominant-negative manner by incorporating into NPCs and impairing their function.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • protein transport | • mRNA export |
| • cell cycle | • chromatin organization |
Pathways
• Nuclear Pore Complex (NPC) assembly
• Nucleocytoplasmic transport
• Cell cycle
• mitotic
Protein Summary
Nucleoporin 93 (NUP93) is a 93 kDa structural component of the nuclear pore complex. It forms part of the inner ring scaffold and is critical for NPC stability and selective transport. NUP93 interacts with other nucleoporins (e.g., NUP205, NUP188) and is involved in mRNA export, nuclear envelope breakdown, and mitotic progression.
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