NUP54
Nucleoporin 54
Gene Information Card
| Symbol | NUP54 |
|---|---|
| Full Name | nucleoporin 54 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q28.1 |
| NCBI Gene ID | 53371 ncbi.nlm.nih.gov/gene/53371 |
| Ensembl ID | ENSG00000138750 |
| UniProt ID | Q7Z3B4 |
| OMIM ID | 607607 |
| HGNC ID | 29931 |
| Aliases | NUP54, FLJ20309 |
Description
NUP54 encodes a 54 kDa nucleoporin, a component of the nuclear pore complex (NPC). The protein is localized to the central channel of the NPC and is involved in nucleocytoplasmic transport of macromolecules. It interacts with other nucleoporins to form the NUP62 complex, which is essential for mRNA export and nuclear import.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary biliary cholangitis (PBC) | Autoantibodies against NUP54 are detected in PBC patients, suggesting an autoimmune mechanism targeting the NPC. | ClinVar, literature |
| Cancer (various) | Altered NUP54 expression or mutations may disrupt nuclear transport, contributing to oncogenesis. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.9 | Medium |
| Liver | 7.3 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | High expression |
| HEK293 | 11.8 | Medium expression |
| K562 | 9.5 | Medium expression |
| A549 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of start codon, likely loss of function |
| c.123C>T (p.Arg41Trp) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or introduce premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • mRNA export from nucleus | • protein import into nucleus |
| • structural constituent of nuclear pore |
Pathways
• Nuclear pore complex (NPC) assembly
• mRNA surveillance pathway
• Transport of mature mRNA to cytoplasm
Protein Summary
NUP54 is a 54 kDa nucleoporin that forms part of the central channel of the nuclear pore complex. It is essential for selective transport of proteins and RNAs between the nucleus and cytoplasm. The protein contains a coiled-coil domain and interacts with NUP62 and other nucleoporins. Autoantibodies against NUP54 are associated with primary biliary cholangitis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUP54 Knockout HEK293 Cell Line | EDJ-KQ51350 | Human | 53371 | Details Get a Quote |
| NUP54 Knockout HeLa Cell Line | EDJ-KQ56373 | Human | 53371 | Details Get a Quote |
| NUP54 Knockout A-549 Cell Line | EDJ-KQ64865 | Human | 53371 | Details Get a Quote |
| NUP54 Knockout HCT 116 Cell Line | EDJ-KQ73309 | Human | 53371 | Details Get a Quote |
