NUP50: Nucleoporin 50 - A Key Component of the Nuclear Pore Complex
Comprehensive genomic and proteomic analysis of NUP50, its role in nucleocytoplasmic transport, associated diseases, and expression profiles.
Gene Information Card
| Symbol | NUP50 |
|---|---|
| Full Name | Nucleoporin 50 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 10762 ncbi.nlm.nih.gov/gene/10762 |
| Ensembl ID | ENSG00000100300 |
| UniProt ID | Q9UKX7 |
| OMIM ID | 604646 |
| HGNC ID | 8066 |
| Aliases | NPAP60, FLJ21827, MGC138290 |
Description
NUP50 (Nucleoporin 50) encodes a component of the nuclear pore complex (NPC), specifically localized to the nuclear basket. It functions as a mobile adaptor that facilitates the import of proteins containing a classical nuclear localization signal (NLS) by interacting with importin alpha and importin beta. NUP50 also plays a role in nuclear export and is involved in cell cycle regulation and chromatin organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| NUP50-related intellectual disability | Loss-of-function mutations in NUP50 disrupt nucleocytoplasmic transport, impairing neuronal development and function. | ClinVar; PMID: 32693025 |
| Acute myeloid leukemia (AML) | NUP50 rearrangements (e.g., NUP50::NSD1 fusion) are recurrent in AML, leading to aberrant transcriptional regulation and leukemogenesis. | COSMIC; PMID: 28280276 |
| Breast cancer | Altered NUP50 expression correlates with poor prognosis; overexpression may enhance nuclear transport of oncogenic proteins. | NCBI Gene; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 15.2 | Medium |
| Brain (cerebellum) | 12.8 | Medium |
| Liver | 6.3 | Low |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 18.7 | High expression |
| HeLa (cervical) | 14.2 | Moderate expression |
| A549 (lung) | 9.5 | Low expression |
| HepG2 (liver) | 7.3 | Low expression |
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, likely loss of function |
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Premature stop, loss of function |
| NUP50::NSD1 fusion | Structural variant | Recurrent in AML | Oncogenic fusion protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; associated with intellectual disability.
Gain of Function (GOF)
Not well characterized; overexpression in some cancers may confer gain-of-function by enhancing nuclear transport.
Dominant Negative (DN)
Not reported for NUP50.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • protein import into nucleus |
| • nucleocytoplasmic transport | • mRNA export from nucleus |
| • cell cycle | • chromatin organization |
Pathways
• Nuclear Pore Complex (NPC) assembly and transport
• Classical nuclear import (importin alpha/beta pathway)
• mRNA surveillance and export
Protein Summary
Nucleoporin 50 (NUP50) is a 50 kDa protein localized to the nuclear basket of the NPC. It contains an N-terminal importin beta-binding domain and a C-terminal importin alpha-binding domain, enabling it to act as a mobile adaptor for NLS-mediated import. NUP50 also interacts with the Ran GTPase system to regulate cargo release. Its expression is highest in testis and lymphoid tissues, and it is essential for proper cell division and development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUP50 Knockout HEK293 Cell Line | EDJ-KQ7156 | Human | 10762 | Details Get a Quote |
| NUP50 Knockout A-549 Cell Line | EDJ-KQ32058 | Human | 10762 | Details Get a Quote |
| NUP50 Knockout HCT 116 Cell Line | EDJ-KQ32059 | Human | 10762 | Details Get a Quote |
| NUP50 Knockout HeLa Cell Line | EDJ-KQ32060 | Human | 10762 | Details Get a Quote |
