NUP107: Nucleoporin 107 - A Key Component of the Nuclear Pore Complex
Essential for nucleocytoplasmic transport, cell cycle progression, and linked to steroid-resistant nephrotic syndrome and cancer.
Gene Information Card
| Symbol | NUP107 |
|---|---|
| Full Name | Nucleoporin 107 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q15 |
| NCBI Gene ID | 57122 ncbi.nlm.nih.gov/gene/57122 |
| Ensembl ID | ENSG00000138650 |
| UniProt ID | P57740 |
| OMIM ID | 607617 |
| HGNC ID | 29914 |
| Aliases | NP107, NUP84, p107, FLJ10407 |
Description
NUP107 encodes nucleoporin 107, a component of the nuclear pore complex (NPC) that regulates nucleocytoplasmic transport. It is part of the NUP107-160 subcomplex, essential for NPC assembly and maintenance. The protein is involved in cell cycle regulation, particularly during mitosis, and plays a role in chromatin organization and gene expression. Mutations in NUP107 are associated with steroid-resistant nephrotic syndrome and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Steroid-resistant nephrotic syndrome (SRNS) | Loss-of-function mutations impair NPC assembly in podocytes, disrupting glomerular filtration barrier | PMID: 25640679, ClinVar |
| Nephrotic syndrome type 1 (NPHS1) | Biallelic mutations cause congenital nephrotic syndrome of the Finnish type | PMID: 25640679 |
| Breast cancer | Overexpression and amplification promote cell proliferation and metastasis | PMID: 23454898, COSMIC |
| Colorectal cancer | Altered expression linked to poor prognosis and tumor progression | PMID: 27149991, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.6 | High |
| Lymph node | 18.3 | High |
| Adrenal gland | 16.7 | High |
| Kidney | 14.2 | Medium |
| Liver | 12.1 | Medium |
| Brain | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.4 | Cervical cancer cell line |
| HEK 293 | 19.8 | Embryonic kidney cells |
| MCF7 | 17.3 | Breast cancer cell line |
| HepG2 | 15.6 | Hepatocellular carcinoma |
| A549 | 14.1 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2146C>T (p.Arg716*) | Nonsense | <0.01% | Loss of function; associated with SRNS |
| c.1339G>A (p.Gly447Arg) | Missense | <0.01% | Impaired NPC assembly; SRNS |
| c.1771C>T (p.Arg591Trp) | Missense | <0.01% | Reduced protein stability; SRNS |
| c.2485A>G (p.Thr829Ala) | Missense | 0.02% | Unknown significance; reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg716*, p.Gly447Arg) disrupt NPC assembly, leading to nucleocytoplasmic transport defects and podocyte dysfunction in SRNS.
Gain of Function (GOF)
Not well characterized; overexpression in cancers may confer proliferative advantage.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg591Trp) may interfere with wild-type NUP107 function in NPC assembly.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • protein transport | • mitotic cell cycle |
| • mRNA export from nucleus | • nuclear envelope reassembly |
Pathways
• Nuclear Pore Complex (NPC) assembly
• NUP107-160 subcomplex
• Cell cycle
• mitotic
• mRNA surveillance pathway
Protein Summary
Nucleoporin 107 (NUP107) is a 107 kDa protein that localizes to the nuclear pore complex. It contains a beta-propeller domain and is essential for NPC structural integrity. The protein interacts with other nucleoporins (e.g., NUP160, NUP133) to form the Y-shaped NUP107-160 complex, which anchors the NPC to the nuclear envelope. During mitosis, NUP107 is involved in spindle assembly checkpoint and kinetochore function. Post-translational modifications include phosphorylation and sumoylation, regulating its localization and function.
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