NUP155: Nucleoporin 155 - Nuclear Pore Complex Component
Essential regulator of nuclear transport and cardiac function
Gene Information Card
| Symbol | NUP155 |
|---|---|
| Full Name | Nucleoporin 155 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p13.2 |
| NCBI Gene ID | 9631 ncbi.nlm.nih.gov/gene/9631 |
| Ensembl ID | ENSG00000113595 |
| UniProt ID | O75694 |
| OMIM ID | 606694 |
| HGNC ID | 8063 |
| Aliases | KIAA0791, N155, nucleoporin 155kDa |
Description
NUP155 encodes a 155 kDa nucleoporin, a component of the nuclear pore complex (NPC) that mediates nucleocytoplasmic transport. It is essential for NPC assembly and function, particularly in cardiac tissue, where mutations are linked to atrial fibrillation and sudden cardiac death.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atrial fibrillation, familial, 15 | Impaired nuclear transport due to NUP155 loss-of-function mutations disrupts cardiac ion channel expression | PMID: 18505826 |
| Sudden cardiac death | NUP155 mutations alter nuclear pore function, leading to arrhythmogenic substrate | PMID: 18505826 |
| Developmental delay | Potential role in neuronal nuclear transport; limited evidence from case reports | PMID: 23453667 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Brain | 8.2 | Low |
| Liver | 7.1 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.3 | Leukemia cell line |
| HeLa | 13.1 | Cervical carcinoma |
| HepG2 | 11.4 | Hepatocellular carcinoma |
| A549 | 10.2 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, reduced protein expression |
| c.223C>T (p.Arg75Trp) | Missense | Rare | Impaired NPC assembly, associated with atrial fibrillation |
| c.1171C>T (p.Arg391Cys) | Missense | Rare | Altered nuclear transport, linked to sudden cardiac death |
Mutation functional classification
Loss of Function (LOF)
NUP155 mutations reduce protein stability or NPC assembly, impairing nuclear transport.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Heterozygous mutations may exert dominant-negative effects by disrupting NPC structure.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore (GO:0005643) | • structural constituent of nuclear pore (GO:0017056) |
| • nucleocytoplasmic transport (GO:0006913) | • mRNA transport (GO:0051028) |
| • protein import into nucleus (GO:0006606) |
Pathways
• Nuclear Pore Complex (NPC) assembly
• Nucleocytoplasmic transport
• mRNA surveillance pathway
Protein Summary
NUP155 is a 1390-amino-acid nucleoporin localized to the nuclear pore complex. It contains multiple phenylalanine-glycine (FG) repeats and interacts with other nucleoporins to form the NPC scaffold. The protein is critical for selective transport of macromolecules across the nuclear envelope, with particular importance in cardiac myocytes where it regulates ion channel expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
