NUP153
Nucleoporin 153: A Key Component of the Nuclear Pore Complex
Gene Information Card
| Symbol | NUP153 |
|---|---|
| Full Name | Nucleoporin 153 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.3 |
| NCBI Gene ID | 9972 ncbi.nlm.nih.gov/gene/9972 |
| Ensembl ID | ENSG00000112659 |
| UniProt ID | P49790 |
| OMIM ID | 603489 |
| HGNC ID | 8062 |
| Aliases | NUP153, hNup153, 153 kDa nucleoporin |
Description
NUP153 (Nucleoporin 153) encodes a 153 kDa protein that is a component of the nuclear pore complex (NPC). It is located on the nuclear basket of the NPC and plays critical roles in nuclear transport, mRNA export, and nuclear envelope organization. The protein contains a zinc finger domain and multiple FG repeats that mediate interactions with transport receptors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | NUP153 fusions (e.g., with NSD1) disrupt nuclear transport and gene expression | COSMIC, literature |
| Breast Cancer | Overexpression and mutations in NUP153 linked to altered nuclear transport and tumor progression | COSMIC, literature |
| Colorectal Cancer | Somatic mutations in NUP153 identified in tumor samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.5 | High |
| Lymph node | 25.3 | High |
| Bone marrow | 22.1 | High |
| Brain | 15.2 | Medium |
| Liver | 10.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 30.2 | High expression |
| HeLa (cervical) | 22.5 | Moderate expression |
| HepG2 (liver) | 18.7 | Moderate expression |
| A549 (lung) | 14.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.567_568insA (p.Glu190fs) | Frameshift | <0.1% | Loss of function; premature stop |
| c.2345G>A (p.Arg782His) | Missense | 0.2% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent NUP153 protein, impairing nuclear pore assembly and transport.
Gain of Function (GOF)
Not well documented; some missense variants may alter transport selectivity.
Dominant Negative (DN)
Not established for NUP153.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore (GO:0005643) | • protein binding (GO:0005515) |
| • transport (GO:0006810) | • structural constituent of nuclear pore (GO:0017056) |
| • RNA binding (GO:0003723) |
Pathways
• Nuclear Pore Complex (NPC) Assembly
• mRNA Export from Nucleus
• Nuclear Transport
Protein Summary
NUP153 is a 1,475-amino acid protein with a molecular weight of 153 kDa. It contains an N-terminal domain that interacts with the nuclear pore complex, a central region with multiple FG repeats, and a C-terminal zinc finger domain. The protein is essential for nuclear pore integrity, nucleocytoplasmic transport, and mRNA export. It localizes to the nuclear basket of the NPC and interacts with transport receptors such as importin and exportin.
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