NUP133
Nucleoporin 133: A Key Component of the Nuclear Pore Complex
Gene Information Card
| Symbol | NUP133 |
|---|---|
| Full Name | Nucleoporin 133 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 55746 ncbi.nlm.nih.gov/gene/55746 |
| Ensembl ID | ENSG00000139567 |
| UniProt ID | Q8WUM0 |
| OMIM ID | 607613 |
| HGNC ID | 18016 |
| Aliases | FLJ10829, KIAA0096, NUP133, nucleoporin 133kDa |
Description
NUP133 encodes a 133 kDa nucleoporin, a component of the nuclear pore complex (NPC). The NPC mediates nucleocytoplasmic transport of macromolecules. NUP133 is part of the Nup107-160 subcomplex, which is essential for NPC assembly and function. Mutations in NUP133 are associated with steroid-resistant nephrotic syndrome and other developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Steroid-resistant nephrotic syndrome (SRNS) | Loss-of-function mutations in NUP133 disrupt NPC assembly, impairing glomerular filtration barrier integrity. | ClinVar, OMIM |
| Nephrotic syndrome type 18 (NPHS18) | Biallelic mutations in NUP133 cause autosomal recessive nephrotic syndrome. | OMIM #618177 |
| Developmental delay and intellectual disability | Homozygous NUP133 variants may affect neuronal NPC function, leading to neurodevelopmental phenotypes. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.8 | Medium |
| Kidney | 12.3 | Medium |
| Lung | 10.5 | Medium |
| Brain | 9.2 | Medium |
| Liver | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| HeLa | 13.7 | Cervical carcinoma cells |
| K562 | 11.4 | Leukemia cells |
| HepG2 | 10.9 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.349C>T (p.Arg117*) | Nonsense | Rare | Loss of function; associated with SRNS |
| c.1022G>A (p.Arg341Gln) | Missense | Rare | Likely damaging; reported in nephrotic syndrome |
| c.1771C>T (p.Arg591Trp) | Missense | Rare | Uncertain significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated NUP133 protein, impairing NPC assembly and nucleocytoplasmic transport.
Gain of Function (GOF)
Not reported for NUP133.
Dominant Negative (DN)
Not reported for NUP133.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • mRNA export | • protein import into nucleus |
| • nuclear envelope organization |
Pathways
• Nuclear Pore Complex (NPC) assembly
• Nucleocytoplasmic transport
• mRNA surveillance pathway
Protein Summary
NUP133 is a 133 kDa nucleoporin that localizes to the nuclear pore complex. It is a core component of the Nup107-160 subcomplex, which is required for NPC assembly and proper nucleocytoplasmic transport. The protein contains a beta-propeller domain and is involved in anchoring the NPC to the nuclear envelope. Mutations in NUP133 cause steroid-resistant nephrotic syndrome and other disorders.
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