NUP98 (nucleoporin 98 kDa)
2002-03-01 Lyndal Kearney AffiliationLeukaemia Research Fund Centre, Institute of Cancer Research, Chester Beatty Laboratories, 237 Fulham Road, London SW3 6JB, UK
Identity
HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
ADIR2,NUP196,NUP96,Nup98-96
FUSION GENES
DNA/RNA
Transcription
3.6, 6.5 , 7.0 kb mRNA
Proteins
NUP98 protein; NUP98 contains a Gly-Leu-Phe-Gly (GLFG and FG) repeat in N-term (aa 1-156), a GLEBS-like motif (which binds RAE1, aa 157-213), another FG motif (aa 214-480) and a RNA binding motif in C-term (aa 738-880). NUP98 is involved in nuclear import/export, mitotic progression, and regulation of gene expression
Description
920 amino acids; 97 kDa; contains repeated motifs (GLFG and FG)
in N-term and a RNA binding motif in C-term
Expression
wide
Localisation
nuclear membrane localisation
Function
nucleoporin: associated with the nuclear pore complex; role in
nucleocytoplasmic transport processes
Homology
member of the GLFG nucleoporins
Implicated in
Entity name
inv (11)(p15q22)/ myelodysplasic syndrome (MDS) or acute non lymphocytic leukemia (AML) --> NUP98-DDX10
Disease
therapy related MDS (t-MDS) and AML; de novo AML
Hybrid gene
5 NUP98 - 3 DDX10
Fusion protein
fuses the GLFG repeat domains of NUP98 to the acidic domain of DDX10
Entity name
Disease
One case of t-AML
Hybrid gene
5 NUP98 - 3 PMX1
Fusion protein
fuses the GLFG repeat domains of NUP98 to the homeodomain of PMX1
Disease
so far, only 1 case of treatment related myelodysplasia evolving towards M6 acute myeloid leukemia
Hybrid gene
5 NUP98 - 3 HOXD13
Fusion protein
fuses the GLFG repeat domains of NUP98 to the HOXD13 homeodomain
Entity name
Disease
3 cases of adult T-ALL
Hybrid gene
5 NUP98 - 3 RAP1GDS1
Fusion protein
fuses the GLFG repeat domains of NUP98 to the entire coding region of RAP1GDS1. The product, rap1gds, has guanine nucleotide exchange factor activity.
Entity name
Disease
AML. 5 cases reported to date. All were children or young adults (age range 3-18 years). Note that the t(5;11)(q35;p15.5) is not detectable by G-banding. Three cases were reported as cryptic t(5;11) associated with del(5q); a further two cases were identified in apparently normal karyotypes.
Hybrid gene
5 NUP98 - 3 NSD1
Fusion protein
fuses the GLFG repeat domains of NUP98 to the conserved SET, SAC and PHD finger domains of the NSD1 gene.
Entity name
Disease
M2-M4 AML mostly; occasionally: CML-like cases
Prognosis
mean survival: 15 mths
Cytogenetics
sole anomaly most often
Hybrid gene
5 NUP98 - 3 HOXA9
Fusion protein
fuses the GLFG repeat domains of NUP98 to the HOXA9 homeobox
Entity name
Disease
One case of de novo AML
Hybrid gene
5 NUP98 - 3 LEDGF
Fusion protein
fuses the GLFG repeat domains of NUP98 to the COOH terminal of the LEDGF gene (encoding transcriptional activators p52 and p75)
Entity name
t(11;12)(p15;q13)/treatment related leukemia (t-AML/MDS)
Disease
1patient with t-MDS/AML
Hybrid gene
5; NUP98 - 3; unknown
Entity name
t(11;17)(p15.5;q21) t-MDS/AML
Disease
1 patient with t-MDS/AML
Hybrid gene
5 NUP98 - 3 unknown
Entity name
Disease
AML, t-MDS/AML
Hybrid gene
5 NUP98 - 3 TOP1
Fusion protein
fuses the GLFG repeat domains of NUP98 to the catalytic domain of TOP1
Breakpoints
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10959088 | 2000 | Potential role for DNA topoisomerase II poisons in the generation of t(11;20)(p15;q11) translocations. | Ahuja HG et al |
| 11103774 | 2000 | t(9;11)(p22;p15) in acute myeloid leukemia results in a fusion between NUP98 and the gene encoding transcriptional coactivators p52 and p75-lens epithelium-derived growth factor (LEDGF). | Ahuja HG et al |
| 9166830 | 1997 | The inv(11)(p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10. | Arai Y et al |
| 11895789 | 2002 | A cryptic t(5;11)(q35;p15.5) in 2 children with acute myeloid leukemia with apparently normal karyotypes, identified by a multiplex fluorescence in situ hybridization telomere assay. | Brown J et al |
| 10477737 | 1999 | The (4;11)(q21;p15) translocation fuses the NUP98 and RAP1GDS1 genes and is recurrent in T-cell acute lymphocytic leukemia. | Hussey DJ et al |
| 11493482 | 2001 | A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. | Jaju RJ et al |
| 10397745 | 1999 | A new recurrent translocation, t(5;11)(q35;p15.5), associated with del(5q) in childhood acute myeloid leukemia. The UK Cancer Cytogenetics Group (UKCCG). | Jaju RJ et al |
| 11681408 | 2001 | NUP98 gene fusions in hematologic malignancies. | Lam DH et al |
| 10397741 | 1999 | NUP98 is fused to PMX1 homeobox gene in human acute myelogenous leukemia with chromosome translocation t(1;11)(q23;p15). | Nakamura T et al |
| 9015297 | 1997 | The vertebrate GLFG nucleoporin, Nup98, is an essential component of multiple RNA export pathways. | Powers MA et al |
| 9766650 | 1998 | NUP98-HOXD13 gene fusion in therapy-related acute myelogenous leukemia. | Raza-Egilmez SZ et al |
Other Information
Locus ID:
NCBI: 4928
MIM: 601021
HGNC: 8068
Ensembl: ENSG00000110713
Variants:
dbSNP: 4928
ClinVar: 4928
TCGA: ENSG00000110713
COSMIC: NUP98
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38940430 | 2024 | NUP98-BPTF promotes oncogenic transformation through PIM1 upregulation. | 0 |
| 38940430 | 2024 | NUP98-BPTF promotes oncogenic transformation through PIM1 upregulation. | 0 |
| 37147424 | 2023 | NUP98::Nsd1 and FLT3-ITD collaborate to generate acute myeloid leukemia. | 0 |
| 37730801 | 2023 | Allogeneic hematopoietic stem cell transplantation for adult acute myeloid leukemia patients with nucleoporin 98 (NUP98) gene rearrangements: a real-world study in China. | 0 |
| 37147424 | 2023 | NUP98::Nsd1 and FLT3-ITD collaborate to generate acute myeloid leukemia. | 0 |
| 37730801 | 2023 | Allogeneic hematopoietic stem cell transplantation for adult acute myeloid leukemia patients with nucleoporin 98 (NUP98) gene rearrangements: a real-world study in China. | 0 |
| 35167894 | 2022 | Distinct pathologic feature of myeloid neoplasm with t(v;11p15); NUP98 rearrangement. | 1 |
| 35258401 | 2022 | Adult acute myeloid leukemia patients with NUP98 rearrangement have frequent cryptic translocations and unfavorable outcome. | 3 |
| 35339191 | 2022 | Knockdown of FLT4, Nup98, and Nup205 Cellular Genes Effectively Suppresses the Reproduction of Influenza Virus Strain A/WSN/1933 (H1N1) In vitro. | 1 |
| 36138110 | 2022 | Molecular interactions of FG nucleoporin repeats at high resolution. | 15 |
| 35167894 | 2022 | Distinct pathologic feature of myeloid neoplasm with t(v;11p15); NUP98 rearrangement. | 1 |
| 35258401 | 2022 | Adult acute myeloid leukemia patients with NUP98 rearrangement have frequent cryptic translocations and unfavorable outcome. | 3 |
| 35339191 | 2022 | Knockdown of FLT4, Nup98, and Nup205 Cellular Genes Effectively Suppresses the Reproduction of Influenza Virus Strain A/WSN/1933 (H1N1) In vitro. | 1 |
| 36138110 | 2022 | Molecular interactions of FG nucleoporin repeats at high resolution. | 15 |
| 32381579 | 2021 | The clinical and biological characteristics of NUP98-KDM5A in pediatric acute myeloid leukemia. | 20 |
Citation
Lyndal Kearney
NUP98 (nucleoporin 98 kDa)
Atlas Genet Cytogenet Oncol Haematol. 2002-03-01
Online version: http://atlasgeneticsoncology.org/gene/63/nup98-(nucleoporin-98-kda)
Historical Card
2000-02-01 NUP98 (nucleoporin 98 kDa) by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
1998-11-01 NUP98 (nucleoporin 98 kDa) by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
1998-01-01 NUP98 (nucleoporin 98 kDa) by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
