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Aliases for NUP98 Gene

Aliases for NUP98 Gene

  • Nucleoporin 98kDa 2 3
  • Nucleoporin 98kD 2 3
  • Nuclear Pore Complex Protein Nup98-Nup96 3
  • GLFG-Repeat Containing Nucleoporin 3
  • Nup98-Nup96 3
  • NUP196 3
  • ADIR2 3
  • ADAR2 4
  • NUP96 3

External Ids for NUP98 Gene

Previous GeneCards Identifiers for NUP98 Gene

  • GC11M004267
  • GC11M003962
  • GC11M003655
  • GC11M003660
  • GC11M003652
  • GC11M003696
  • GC11M003430
  • GC11M003697

Summaries for NUP98 Gene

Entrez Gene Summary for NUP98 Gene

  • Signal-mediated nuclear import and export proceed through the nuclear pore complex (NPC), which is comprised of approximately 50 unique proteins collectively known as nucleoporins. The 98 kDa nucleoporin is generated through a biogenesis pathway that involves synthesis and proteolytic cleavage of a 186 kDa precursor protein. This cleavage results in the 98 kDa nucleoporin as well as a 96 kDa nucleoporin, both of which are localized to the nucleoplasmic side of the NPC. Rat studies show that the 98 kDa nucleoporin functions as one of several docking site nucleoporins of transport substrates. The human gene has been shown to fuse to several genes following chromosome translocations in acute myelogenous leukemia (AML) and T-cell acute lymphocytic leukemia (T-ALL). This gene is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, May 2010]

GeneCards Summary for NUP98 Gene

NUP98 (Nucleoporin 98kDa) is a Protein Coding gene. Diseases associated with NUP98 include acute myelomonocytic leukemia and beckwith-wiedemann syndrome. Among its related pathways are Disease and Cell Cycle, Mitotic. GO annotations related to this gene include transporter activity and structural constituent of nuclear pore.

UniProtKB/Swiss-Prot for NUP98 Gene

  • Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. Nup98 and Nup96 are involved in the bidirectional transport across the NPC. May anchor NUP153 and TPR to the NPC.

Gene Wiki entry for NUP98 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUP98 Gene

Genomics for NUP98 Gene

Regulatory Elements for NUP98 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NUP98 Gene

Start:
3,671,083 bp from pter
End:
3,797,792 bp from pter
Size:
126,710 bases
Orientation:
Minus strand

Genomic View for NUP98 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NUP98 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP98 Gene

Proteins for NUP98 Gene

  • Protein details for NUP98 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52948-NUP98_HUMAN
    Recommended name:
    Nuclear pore complex protein Nup98-Nup96
    Protein Accession:
    P52948
    Secondary Accessions:
    • Q8IUT2
    • Q8WYB0
    • Q96E54
    • Q9H3Q4
    • Q9NT02
    • Q9UF57
    • Q9UHX0
    • Q9Y6J4
    • Q9Y6J5

    Protein attributes for NUP98 Gene

    Size:
    1817 amino acids
    Molecular mass:
    197579 Da
    Quaternary structure:
    • Part of the nuclear pore complex (NPC). Nup98 interacts directly with Nup96. Nup98 interacts directly with NUP88 and NUP214, subunits of the cytoplasmic filaments of the NPC (By similarity). Nup96 is part of the Nup160 subcomplex in the nuclear pore which is composed of NUP160, NUP133, NUP107 and Nup96. This complex plays a role in RNA export and in tethering Nup98 and NUP153 to the nucleus. Interacts with RAE1. Does not interact with TPR. Interacts with vesicular stomatitis virus protein M.
    SequenceCaution:
    • Sequence=AAD22395.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305}; Sequence=AAD22396.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305}; Sequence=AAF19342.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF19342.1; Type=Frameshift; Positions=1551; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUP98 Gene

    Alternative splice isoforms for NUP98 Gene

neXtProt entry for NUP98 Gene

Proteomics data for NUP98 Gene at MOPED

Post-translational modifications for NUP98 Gene

  • Isoform 1 to isoform 4 are autoproteolytically cleaved to yield Nup98 and Nup96 or Nup98 only, respectively. Cleaved Nup98 is necessary for the targeting of Nup98 to the nuclear pore and the interaction with Nup96.
  • Proteolytically degraded after poliovirus (PV) infection; degradation is partial and NCP- and TPR-binding domains withstand degradation
  • Ubiquitination at Lys193, Lys534, Lys572, Lys603, Lys639, Lys757, Lys1019, Lys1040, Lys1052, Lys1222, Lys1341, Lys1405, Lys1601, Lys1608, Lys1668, Lys1722, Lys1739, and Lys1092
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NUP98 (NUP98)

No data available for DME Specific Peptides for NUP98 Gene

Domains for NUP98 Gene

Protein Domains for NUP98 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NUP98 Gene

Graphical View of Domain Structure for InterPro Entry

P52948

UniProtKB/Swiss-Prot:

NUP98_HUMAN :
  • P52948
Domain:
  • Contains G-L-F-G repeats. The FG repeat domains in Nup98 have a direct role in the transport
  • Contains 1 peptidase S59 domain.
Family:
  • Belongs to the nucleoporin GLFG family.
genes like me logo Genes that share domains with NUP98: view

No data available for Gene Families for NUP98 Gene

Function for NUP98 Gene

Molecular function for NUP98 Gene

GENATLAS Biochemistry: nucleoporin,essential component of multiple RNA export pathway,unlikely involved in the nuclear import of protein,fused with HOX9D in acute myeloid leukemia with translocation t(7;11) (p15;p15),and with DDX10 in de novo or therapy related myeloid malignancies with HOXD13 in translocation t(2;11) (q35;p15) with inv11(p15-q22) and with PMX1 in translocation t(1;11) (q23;p15),with RAP1GDS1 in t(4;11)(q21;p15) in T cell acute lymphocitic leukemia,fused with TOP1 in t(11;20)(p15;q11) in therapy related myelodysplastic syndrome
UniProtKB/Swiss-Prot Function: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. Nup98 and Nup96 are involved in the bidirectional transport across the NPC. May anchor NUP153 and TPR to the NPC.

Gene Ontology (GO) - Molecular Function for NUP98 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 7736573
GO:0005515 protein binding IPI 15146057
GO:0017056 structural constituent of nuclear pore NAS 9348540
GO:0042277 peptide binding IEA --
genes like me logo Genes that share ontologies with NUP98: view
genes like me logo Genes that share phenotypes with NUP98: view

Animal Models for NUP98 Gene

MGI Knock Outs for NUP98:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NUP98

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NUP98 Gene

Localization for NUP98 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP98 Gene

Nucleus. Nucleus membrane; Peripheral membrane protein; Nucleoplasmic side. Nucleus, nuclear pore complex. Note=Nup96 is localized to the nucleoplasmic side of the nuclear pore complex (NPC), at or near the nucleoplasmic basket. Dissociates from the dissasembled NPC structure early during prophase of mitosis. Colocalized with NUP153 and TPR to the nuclear basket of NPC. Detected in diffuse and discrete intranuclear foci. Remained localized to the nuclear membrane after poliovirus (PV) infection.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NUP98 Gene COMPARTMENTS Subcellular localization image for NUP98 gene
Compartment Confidence
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for NUP98 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 colocalizes_with kinetochore IDA 15146057
GO:0005634 nucleus --
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore NAS 10087256
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with NUP98: view

Pathways for NUP98 Gene

SuperPathways for NUP98 Gene

genes like me logo Genes that share pathways with NUP98: view

Pathways by source for NUP98 Gene

1 Cell Signaling Technology pathway for NUP98 Gene
47 Reactome pathways for NUP98 Gene
2 KEGG pathways for NUP98 Gene

Gene Ontology (GO) - Biological Process for NUP98 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000059 protein import into nucleus, docking NAS 15229283
GO:0000278 mitotic cell cycle TAS --
GO:0005975 carbohydrate metabolic process TAS --
GO:0006260 DNA replication IMP 9348540
GO:0006810 transport --
genes like me logo Genes that share ontologies with NUP98: view

Compounds for NUP98 Gene

(3) Novoseek inferred chemical compound relationships for NUP98 Gene

Compound -log(P) Hits PubMed IDs
deguelin 72.7 8
gtp 15.4 1
oligonucleotide 1.04 1
genes like me logo Genes that share compounds with NUP98: view

Transcripts for NUP98 Gene

Unigene Clusters for NUP98 Gene

Nucleoporin 98kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NUP98

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NUP98 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d · 11e ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - -
SP2: - -
SP3: - - -
SP4:
SP5:
SP6: - - -
SP7:
SP8: -
SP9: - - -
SP10:
SP11:
SP12:
SP13:

ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33a · 33b ^
SP1: - - -
SP2:
SP3:
SP4: - - -
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10: - - -
SP11: -
SP12:
SP13:

ExUns: 34a · 34b · 34c · 34d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for NUP98 Gene

GeneLoc Exon Structure for
NUP98
ECgene alternative splicing isoforms for
NUP98

Expression for NUP98 Gene

mRNA expression in normal human tissues for NUP98 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NUP98 Gene

SOURCE GeneReport for Unigene cluster for NUP98 Gene Hs.524750

genes like me logo Genes that share expressions with NUP98: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NUP98 Gene

Orthologs for NUP98 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NUP98 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC100609884 35
  • 99.46 (n)
  • 99.08 (a)
NUP98 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NUP98 35
  • 91.92 (n)
  • 93.72 (a)
NUP98 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NUP98 35
  • 92.27 (n)
  • 93.22 (a)
NUP98 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nup98 35
  • 89.36 (n)
  • 91.66 (a)
Nup98 16
Nup98 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NUP98 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nup98 35
  • 88.88 (n)
  • 91.43 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 77 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
NUP98 35
  • 73.37 (n)
  • 77.29 (a)
lizard
(Anolis carolinensis)
Reptilia NUP98 36
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2522 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nup98 35
  • 65.57 (n)
  • 65.78 (a)
Str.6622 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11018 35
zebrafish
(Danio rerio)
Actinopterygii nup98 35
  • 62.83 (n)
  • 63.41 (a)
nup98 36
  • 61 (a)
OneToOne
zgc63593 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002351 35
  • 46.77 (n)
  • 40.81 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nup98-96 35
  • 45.73 (n)
  • 36.69 (a)
Nup98-96 36
  • 29 (a)
OneToOne
CG10198 37
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea npp-10 36
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NUP100 38
NUP145 36
  • 23 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons SAR3 35
  • 43.72 (n)
  • 32.31 (a)
rice
(Oryza sativa)
Liliopsida Os03g0172000 35
  • 41.76 (n)
  • 30.39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToOne
Species with no ortholog for NUP98:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NUP98 Gene

ENSEMBL:
Gene Tree for NUP98 (if available)
TreeFam:
Gene Tree for NUP98 (if available)

Paralogs for NUP98 Gene

genes like me logo Genes that share paralogs with NUP98: view

No data available for Paralogs for NUP98 Gene

Variants for NUP98 Gene

Sequence variations from dbSNP and Humsavar for NUP98 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1875 -- 3,693,259(+) CTGAG(C/T)GCCCT synonymous-codon, reference, downstream-variant-500B
rs169346 -- 3,771,461(-) cagct(A/G)gtgga intron-variant
rs188044 -- 3,778,755(+) CCCTT(A/G)TTTTT intron-variant
rs190680 -- 3,754,968(+) AATCC(A/G)TAGGT intron-variant
rs202438 -- 3,704,783(-) ACTGA(G/T)CATCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NUP98 Gene

Variant ID Type Subtype PubMed ID
dgv336e1 CNV Complex 17122850
nsv832051 CNV Gain 17160897
essv2992 CNV CNV 17122850
dgv337e1 CNV Complex 17122850
nsv428247 CNV Loss 18775914
nsv832052 CNV Loss 17160897
nsv526441 CNV Gain 19592680
nsv528141 CNV Loss 19592680
nsv896893 CNV Loss 21882294
esv2664722 CNV Deletion 23128226
esv2744047 CNV Deletion 23290073

Relevant External Links for NUP98 Gene

HapMap Linkage Disequilibrium report
NUP98
Human Gene Mutation Database (HGMD)
NUP98

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP98 Gene

Disorders for NUP98 Gene

UniProtKB/Swiss-Prot

NUP98_HUMAN
  • Note=A chromosomal aberration involving NUP98 is found in a form of acute myeloid leukemia. Translocation t(7;11)(p15;p15) with HOXA9. Translocation t(11;17)(p15;p13) with PHF23. {ECO:0000269 PubMed:16028218}.
  • Note=A chromosomal aberration involving NUP98 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NSD1. Translocation t(8;11)(p11.2;p15) with WHSC1L1. {ECO:0000269 PubMed:16028218}.
  • Note=A chromosomal aberration involving NUP98 is found in a form of therapy-related myelodysplastic syndrome. Translocation t(11;20)(p15;q11) with TOP1. {ECO:0000269 PubMed:16028218}.
  • Note=A chromosomal aberration involving NUP98 is found in a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(3;11)(q12.2;p15.4) with LNP1. {ECO:0000269 PubMed:16028218}.
  • Note=A chromosomal aberration involving NUP98 is associated with pediatric acute myeloid leukemia (AML) with intermediate characteristics between M2-M3 French-American-British (FAB) subtypes. Translocation t(9;11)(p22;p15) with PSIP1/LEDGF. The chimeric transcript is an in-frame fusion of NUP98 exon 8 to PSIP1/LEDGF exon 4. {ECO:0000269 PubMed:16028218}.
  • Note=A chromosomal aberration involving NUP98 has been identified in acute leukemias. Translocation t(6;11)(q24.1;p15.5) with CCDC28A. The chimeric transcript is an in-frame fusion of NUP98 exon 13 to CCDC28A exon 2. Ectopic expression of NUP98-CCDC28A in mouse promotes the proliferative capacity and self-renewal potential of hematopoietic progenitors and rapidly induced fatal myeloproliferative neoplasms and defects in the differentiation of the erythro-megakaryocytic lineage. {ECO:0000269 PubMed:16028218}.

(1) University of Copenhagen DISEASES for NUP98 Gene

(16) Novoseek inferred disease relationships for NUP98 Gene

Disease -log(P) Hits PubMed IDs
leukemogenesis 84.7 10
myelodysplastic syndromes 72.1 10
aml childhood 72 5
aml adult 67.5 2
hematologic malignancies 65.1 12

Relevant External Links for NUP98

Genetic Association Database (GAD)
NUP98
Human Genome Epidemiology (HuGE) Navigator
NUP98
genes like me logo Genes that share disorders with NUP98: view

Publications for NUP98 Gene

  1. The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9. (PMID: 8563754) Borrow J. … Housman D.E. (Nat. Genet. 1996) 3 4 23
  2. 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. (PMID: 9166830) Arai Y. … Ohki M. (Blood 1997) 2 3 23
  3. The t(11;20)(p15;q11) chromosomal translocation associated with therapy-related myelodysplastic syndrome results in an NUP98-TOP1 fusion. (PMID: 10556215) Ahuja H.G. … Aplan P.D. (Blood 1999) 3 4 23
  4. A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. (PMID: 11493482) Jaju R.J. … Wainscoat J.S. (Blood 2001) 3 4 23
  5. Novel vertebrate nucleoporins Nup133 and Nup160 play a role in mRNA export. (PMID: 11684705) Vasu S. … Forbes D.J. (J. Cell Biol. 2001) 3 4 23

Products for NUP98 Gene

  • Addgene plasmids for NUP98

Sources for NUP98 Gene

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