NUP160
Nucleoporin 160
Gene Information Card
| Symbol | NUP160 |
|---|---|
| Full Name | Nucleoporin 160 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 23279 ncbi.nlm.nih.gov/gene/23279 |
| Ensembl ID | ENSG00000130066 |
| UniProt ID | Q12769 |
| OMIM ID | 607614 |
| HGNC ID | 8069 |
| Aliases | KIAA0197, NUP160, Nup160, 160 kDa nucleoporin |
Description
NUP160 (Nucleoporin 160) encodes a 160 kDa component of the nuclear pore complex (NPC), specifically the Nup107-160 subcomplex, which is essential for NPC assembly, nuclear transport, and cell cycle progression. The protein localizes to the nuclear envelope and is involved in the transport of macromolecules between the nucleus and cytoplasm.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| NUP160-related disorder (autosomal recessive intellectual disability) | Loss-of-function mutations impair NPC assembly and nuclear transport, leading to neuronal dysfunction | ClinVar, OMIM |
| Acute myeloid leukemia (AML) | Somatic mutations may disrupt nuclear transport, contributing to leukemogenesis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Liver | 9.1 | Medium |
| Kidney | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | Embryonic kidney cells |
| K562 | 12.1 | Leukemia cells |
| HeLa | 11.5 | Cervical cancer cells |
| HepG2 | 10.8 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.313C>T (p.Arg105*) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Unknown; reported in AML |
| c.4567_4568del (p.Leu1523Valfs*2) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing NPC function.
Gain of Function (GOF)
Not reported for NUP160.
Dominant Negative (DN)
Not reported for NUP160.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • protein transport | • mRNA export |
| • cell cycle | • mitosis |
Pathways
• Nuclear pore complex (NPC) assembly
• Nup107-160 subcomplex
• mRNA export from nucleus
• Cell cycle
• mitotic
Protein Summary
NUP160 is a 160 kDa nucleoporin that forms part of the Nup107-160 subcomplex of the nuclear pore complex. It is essential for NPC assembly, nuclear envelope integrity, and nucleocytoplasmic transport. The protein contains multiple beta-propeller domains and is involved in cell cycle regulation, particularly during mitosis.
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