NUP98 Gene: Nucleoporin 98 and Its Role in Leukemia and Gene Regulation
A comprehensive guide to NUP98, its genomic context, associated diseases, expression patterns, mutations, and functional classification.
Gene Information Card
| Symbol | NUP98 |
|---|---|
| Full Name | Nucleoporin 98 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 4922 ncbi.nlm.nih.gov/gene/4922 |
| Ensembl ID | ENSG00000110713 |
| UniProt ID | P52948 |
| OMIM ID | 601021 |
| HGNC ID | 8068 |
| Aliases | NUP96, NUP98-96, ADIR2 |
Description
NUP98 encodes a 98 kDa nucleoporin that is a component of the nuclear pore complex. It plays a critical role in nucleocytoplasmic transport, gene regulation, and mitotic spindle assembly. NUP98 is frequently involved in chromosomal translocations in hematological malignancies, leading to fusion proteins with various partner genes, which contribute to leukemogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia (AML) | Chromosomal translocations involving NUP98 create fusion proteins (e.g., NUP98-HOXA9) that aberrantly activate gene expression and block differentiation. | Recurrent translocations observed in AML; functional studies demonstrate oncogenic potential. |
| Acute Lymphoblastic Leukemia (ALL) | NUP98 fusions (e.g., NUP98-NSD1) are found in a subset of ALL, particularly in infant and pediatric cases, leading to altered histone methylation and gene expression. | Clinical case reports and genomic profiling studies. |
| Myelodysplastic Syndromes (MDS) | NUP98 rearrangements are less common but have been reported in MDS, contributing to disease progression. | Cytogenetic analyses and case studies. |
| Chronic Myelogenous Leukemia (CML) blast crisis | NUP98 fusions can appear during blast crisis, indicating a role in disease progression. | Case reports and molecular studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.3 | Medium |
| Lymph Node | 8.7 | Low |
| Spleen | 7.9 | Low |
| Thymus | 6.5 | Low |
| Lung | 5.2 | Low |
| Kidney | 4.8 | Low |
| Brain | 3.1 | Low |
| Liver | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression; relevant for leukemia studies. |
| HeLa (cervical cancer) | 10.5 | Moderate expression. |
| A549 (lung cancer) | 8.3 | Moderate expression. |
| MCF7 (breast cancer) | 7.1 | Low to moderate expression. |
| HepG2 (liver cancer) | 5.6 | Low expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| NUP98-HOXA9 fusion | Chromosomal translocation t(7;11)(p15;p15) | Recurrent in AML (1-2% of cases) | Fusion protein with aberrant transcriptional activity. |
| NUP98-NSD1 fusion | Chromosomal translocation t(5;11)(q35;p15) | Found in pediatric AML and ALL; poor prognosis. | Fusion protein alters histone methylation. |
| NUP98-PHF23 fusion | Chromosomal translocation t(11;17)(p15;p13) | Rare; reported in AML. | Fusion protein disrupts chromatin regulation. |
| NUP98-DDX10 fusion | Chromosomal translocation t(11;11)(p15;q22) | Rare; observed in AML and MDS. | Fusion protein affects RNA processing. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in NUP98 are rare and not well characterized. Complete loss may be lethal due to essential roles in nuclear transport.
Gain of Function (GOF)
Gain-of-function is primarily due to fusion proteins that acquire novel transcriptional activation domains, leading to aberrant gene expression and leukemogenesis.
Dominant Negative (DN)
Some NUP98 fusions may act in a dominant-negative manner by interfering with normal nucleoporin function, disrupting nuclear transport and mitotic processes.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • mRNA export from nucleus |
| • protein transport | • mitotic spindle assembly |
| • gene expression regulation | • chromatin organization |
Pathways
• Nuclear pore complex assembly
• RNA transport
• Cell cycle (mitotic)
• Transcriptional regulation by fusion proteins
Protein Summary
NUP98 is a 98 kDa nucleoporin that localizes to the nuclear pore complex. It contains multiple phenylalanine-glycine (FG) repeats that facilitate transport receptor binding. NUP98 is involved in mRNA export and also has roles in gene regulation and mitosis. Chromosomal translocations that fuse NUP98 to various partner genes (e.g., HOXA9, NSD1) create oncoproteins that drive leukemia by altering gene expression and chromatin state.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUP98 Knockout HAP1 Cell Line | EDJ-KQ78115 | Human | 4928 | Details Get a Quote |
| NUP98 Knockout HEK293T Cell Line | EDJ-KQ78154 | Human | 4928 | Details Get a Quote |
| NUP98 Knockout HCT 116 Cell Line | EDJ-KQ78155 | Human | 4928 | Details Get a Quote |
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