NUP88: Nucleoporin 88 - A Key Component of the Nuclear Pore Complex
Comprehensive genomic and proteomic overview of NUP88, its role in nucleocytoplasmic transport, associated diseases, and expression profiles.
Gene Information Card
| Symbol | NUP88 |
|---|---|
| Full Name | Nucleoporin 88 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 4927 ncbi.nlm.nih.gov/gene/4927 |
| Ensembl ID | ENSG00000108559 |
| UniProt ID | Q99567 |
| OMIM ID | 602557 |
| HGNC ID | 8067 |
| Aliases | NUP84, NUP88, nucleoporin 88kDa |
Description
NUP88 (nucleoporin 88) encodes a 741-amino acid protein that is a component of the nuclear pore complex (NPC). The NPC mediates nucleocytoplasmic transport of macromolecules. NUP88 is localized to the cytoplasmic face of the NPC and interacts with other nucleoporins, including NUP214 and NUP62. It plays a role in mRNA export and nuclear envelope organization. Overexpression and mutations of NUP88 have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of NUP88 is associated with poor prognosis in breast, lung, and colorectal cancers; may promote cell proliferation and migration via altered nuclear transport. | PMID: 12354778, PMID: 15604238 |
| Primary microcephaly | Biallelic loss-of-function mutations in NUP88 cause autosomal recessive primary microcephaly, likely due to impaired nuclear transport in neural progenitors. | PMID: 30057014 |
| Developmental delay / intellectual disability | Homozygous NUP88 mutations lead to neurodevelopmental phenotypes, including microcephaly and intellectual disability. | PMID: 30057014 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain (cerebral cortex) | 8.2 | Low |
| Breast | 15.3 | Medium |
| Colon | 18.7 | Medium |
| Lung | 14.1 | Medium |
| Liver | 10.6 | Medium |
| Testis | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical carcinoma) | 16.5 | High expression |
| A549 (lung carcinoma) | 14.2 | Medium expression |
| MCF7 (breast carcinoma) | 18.1 | High expression |
| HEK293 (embryonic kidney) | 12.8 | Medium expression |
| K562 (leukemia) | 9.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1771C>T (p.Arg591*) | Nonsense | Rare | Loss of function; associated with primary microcephaly |
| c.1246G>A (p.Gly416Arg) | Missense | Rare | Likely damaging; reported in developmental delay |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; microcephaly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in NUP88 lead to truncated or absent protein, impairing nuclear pore function and causing microcephaly.
Gain of Function (GOF)
Not clearly established; overexpression in cancer may act as an oncogenic driver, but no activating mutations are documented.
Dominant Negative (DN)
Not reported for NUP88.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore (GO:0005643) | • nucleocytoplasmic transport (GO:0006913) |
| • mRNA export from nucleus (GO:0006406) | • protein transport (GO:0015031) |
| • cytoplasmic side of nuclear pore (GO:0044613) |
Pathways
• Nuclear Pore Complex (NPC) assembly
• mRNA surveillance pathway
• Transport of mature mRNA to cytoplasm
Protein Summary
Nucleoporin 88 (NUP88) is a 88 kDa protein located on the cytoplasmic face of the nuclear pore complex. It contains a beta-propeller domain and interacts with NUP214 and NUP62 to form a subcomplex essential for nuclear transport. NUP88 is involved in the export of mRNA and import of proteins. Its overexpression is linked to cancer progression, while loss-of-function mutations cause neurodevelopmental disorders.
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