Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleo... See more...

Aliases for NUP98 Gene

Aliases for NUP98 Gene

  • Nucleoporin 98 And 96 Precursor 2 3 5
  • Nuclear Pore Complex Protein Nup98-Nup96 2 3 4
  • Nucleoporin 98kDa 2 3
  • Nucleoporin 96 2 3
  • Nup98-Nup96 2 3
  • Nup98-96 2 3
  • NUP96 2 3
  • Nuclear Pore Complex Protein Nup98 3
  • GLFG-Repeat Containing Nucleoporin 3
  • NUP98/PHF23 Fusion 2 Protein 3
  • Nucleoporin 98kD 3
  • Nucleoporin 98 2
  • EC 3.4.21.- 4
  • NUP196 3
  • ADIR2 3
  • NUP98 5
  • ADAR2 4

External Ids for NUP98 Gene

Previous GeneCards Identifiers for NUP98 Gene

  • GC11M004267
  • GC11M003962
  • GC11M003655
  • GC11M003660
  • GC11M003652
  • GC11M003696
  • GC11M003430
  • GC11M003697
  • GC11M003700

Summaries for NUP98 Gene

Entrez Gene Summary for NUP98 Gene

  • Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]

CIViC Summary for NUP98 Gene

GeneCards Summary for NUP98 Gene

NUP98 (Nucleoporin 98 And 96 Precursor) is a Protein Coding gene. Diseases associated with NUP98 include Acute Megakaryoblastic Leukemia Without Down Syndrome and Childhood Acute Myeloid Leukemia. Among its related pathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA. Gene Ontology (GO) annotations related to this gene include transporter activity and structural constituent of nuclear pore.

UniProtKB/Swiss-Prot Summary 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. In cooperation with DHX9, plays a role in transcription and alternative splicing activation of a subset of genes (PubMed:28221134). Involved in the localization of DHX9 in discrete intranuclear foci (GLFG-body) (PubMed:28221134).
  • (Microbial infection) Binds HIV-1 capsid-nucleocapsid (HIV-1 CA-NC) complexes and may thereby promote the integration of the virus in the host nucleus (in vitro) (PubMed:23523133). Binding affinity to HIV-1 CA-NC complexes bearing the capsid change ASN-74-ASP is reduced (in vitro) (PubMed:23523133).

Gene Wiki entry for NUP98 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP98 Gene

Genomics for NUP98 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NUP98 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J003795 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.6 613 4 BCLAF1 SP1 ZNF207 MYC IKZF1 JUND ZNF580 ZNF592 ATF2 POLR2A NUP98 PGAP2 TRIM68 ART5 piR-32214-073 CHRNA10
GH11J003783 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 250.4 +12.1 12102 3.8 BCLAF1 IKZF1 CTCF BCL11A TRIM22 IRF4 EBF1 CBFB SMARCA5 PRDM6 piR-38580-048 NUP98 ART5 piR-32214-073 PGAP2 CHRNA10
GH11J003830 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 27.9 -38.6 -38645 12.7 BCLAF1 ZNF207 MYC IKZF1 NCOR1 ZNF600 ZNF592 KLF9 NFIC ZIC2 RHOG HSALNG0082329 NUP98 RRM1 ENSG00000206976 ART1 ART5 CHRNA10 STIM1 PPIAP40
GH11J003377 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 21.7 +418.2 418191 6.8 BCLAF1 SP1 ZNF207 NCOR1 MYC ZNF592 ATF2 POLR2A NFIC ZBTB10 TSSC2 ZNF195 HSALNG0082294 lnc-ART1-6 lnc-ART1-9 lnc-MRGPRE-2 NUP98 RRM1 TSSC4 ART5
GH11J003824 Enhancer 1 ENCODE dbSUPER 27.3 -28.4 -28364 3.2 NCOR1 ZNF600 MYC IKZF1 ZNF592 POLR2A CTCF REST SMAD5 TRIM22 NUP98 OSBPL5 RRM1 ART1 ART5 CHRNA10 lnc-RHOG-1 HSALNG0082329 RHOG PGAP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUP98 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP98

Top Transcription factor binding sites by QIAGEN in the NUP98 gene promoter:
  • aMEF-2
  • Egr-1
  • MEF-2A
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Pax-4a
  • Tal-1

Genomic Locations for NUP98 Gene

Latest Assembly
chr11:3,671,083-3,797,792
(GRCh38/hg38)
Size:
126,710 bases
Orientation:
Minus strand

Previous Assembly
chr11:3,696,240-3,818,784
(GRCh37/hg19 by Entrez Gene)
Size:
122,545 bases
Orientation:
Minus strand

chr11:3,692,313-3,819,022
(GRCh37/hg19 by Ensembl)
Size:
126,710 bases
Orientation:
Minus strand

Genomic View for NUP98 Gene

Genes around NUP98 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP98 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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) (PubMed:15229283, PubMed:18287282). Interacts directly with NUP96 (PubMed:12191480). 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 (PubMed:11684705). Interacts with RAE1 (PubMed:10209021, PubMed:20498086). Does not interact with TPR (PubMed:11684705). Interacts with NUP88 (PubMed:30543681). Interacts directly with NUP88 and NUP214, subunits of the cytoplasmic filaments of the NPC (By similarity). Interacts (via N-terminus) with DHX9 (via DRBM, OB-fold and RGG domains); this interaction occurs in a RNA-dependent manner and stimulates DHX9-mediated ATPase activity (PubMed:28221134).
    • (Microbial infection) Interacts with vesicular stomatitis virus protein M (PubMed:11106761).
    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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAF19342.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUP98 Gene

    Alternative splice isoforms for NUP98 Gene

neXtProt entry for NUP98 Gene

Post-translational modifications for NUP98 Gene

  • Isoform 1 to isoform 4 are autoproteolytically cleaved to yield Nup98 and Nup96 or Nup98 only, respectively (PubMed:10087256, PubMed:20407419, PubMed:12191480, PubMed:18287282). Cleaved Nup98 is necessary for the targeting of Nup98 to the nuclear pore and the interaction with Nup96 (PubMed:20407419, PubMed:12191480).
  • Proteolytically degraded after poliovirus (PV) infection; degradation is partial and NCP- and TPR-binding domains withstand degradation.
  • Glycosylation at Asn606
  • Ubiquitination at Lys193, Lys534, Lys572, Lys603, Lys639, Lys757, Lys1019, Lys1040, Lys1052, Lys1222, Lys1341, Lys1405, Lys1601, Lys1608, Lys1668, Lys1722, and Lys1739
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for NUP98 Gene

Domains & Families for NUP98 Gene

Gene Families for NUP98 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NUP98 Gene

InterPro:
Blocks:
  • Nucleoporin autopeptidase

Suggested Antigen Peptide Sequences for NUP98 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear pore complex protein Nup98-Nup96 (NUP98_HUMAN)
  • Nucleoporin NUP98 (Q9HDC8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52948

UniProtKB/Swiss-Prot:

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

Function for NUP98 Gene

Molecular function for NUP98 Gene

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. In cooperation with DHX9, plays a role in transcription and alternative splicing activation of a subset of genes (PubMed:28221134). Involved in the localization of DHX9 in discrete intranuclear foci (GLFG-body) (PubMed:28221134).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Binds HIV-1 capsid-nucleocapsid (HIV-1 CA-NC) complexes and may thereby promote the integration of the virus in the host nucleus (in vitro) (PubMed:23523133). Binding affinity to HIV-1 CA-NC complexes bearing the capsid change ASN-74-ASP is reduced (in vitro) (PubMed:23523133).
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

Enzyme Numbers (IUBMB) for NUP98 Gene

Phenotypes From GWAS Catalog for NUP98 Gene

Gene Ontology (GO) - Molecular Function for NUP98 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IMP 28221134
GO:0003729 mRNA binding IMP 28221134
GO:0005215 transporter activity TAS 7736573
GO:0005515 protein binding IPI 9348540
GO:0008139 nuclear localization sequence 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:

miRNA for NUP98 Gene

miRTarBase miRNAs that target NUP98

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP98

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NUP98 Gene

Localization for NUP98 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP98 Gene

Nucleus membrane. Peripheral membrane protein. Nucleoplasmic side. Nucleus, nuclear pore complex. Nucleus, nucleoplasm. Note=Localized to the nucleoplasmic side of the nuclear pore complex (NPC), at or near the nucleoplasmic basket (PubMed:11839768). Dissociates from the dissasembled NPC structure early during prophase of mitosis (PubMed:12802065). Colocalized with NUP153 and TPR to the nuclear basket of NPC (PubMed:11839768). Colocalized with DHX9 in diffuse and discrete intranuclear foci (GLFG-body) (PubMed:11839768, PubMed:28221134). Remains localized to the nuclear membrane after poliovirus (PV) infection (PubMed:11106761). {ECO:0000269 PubMed:11106761, ECO:0000269 PubMed:11839768, ECO:0000269 PubMed:12802065, ECO:0000269 PubMed:28221134}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUP98 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
extracellular 1
mitochondrion 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (1)
See all subcellular structures

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 IEA --
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore IEA,NAS 10087256
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with NUP98: view

Pathways & Interactions for NUP98 Gene

PathCards logo

SuperPathways for NUP98 Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with NUP98: view

Pathways by source for NUP98 Gene

SIGNOR curated interactions for NUP98 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NUP98 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006110 regulation of glycolytic process TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006508 proteolysis IEA --
GO:0006606 protein import into nucleus IEA --
genes like me logo Genes that share ontologies with NUP98: view

Drugs & Compounds for NUP98 Gene

(3) Additional Compounds for NUP98 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NUP98: view

Transcripts for NUP98 Gene

mRNA/cDNA for NUP98 Gene

9 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP98

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

Expression for NUP98 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUP98 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NUP98 Gene

This gene is overexpressed in Serum (29.5) and Peripheral blood mononuclear cells (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP98 Gene



Protein tissue co-expression partners for NUP98 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP98

SOURCE GeneReport for Unigene cluster for NUP98 Gene:

Hs.524750

Evidence on tissue expression from TISSUES for NUP98 Gene

  • Blood(4.5)
  • Liver(4.5)
  • Nervous system(3.7)
  • Bone marrow(3.1)
  • Lung(2.6)
  • Skin(2.5)
  • Spleen(2.4)
  • Intestine(2.4)
  • Kidney(2.4)
  • Lymph node(2.2)
  • Muscle(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with NUP98: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 NUP98 30
  • 100 (a)
OneToOne
LOC100609884 29
  • 99.46 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 93 (a)
OneToMany
-- 30
  • 92 (a)
OneToMany
-- 30
  • 89 (a)
OneToMany
-- 30
  • 82 (a)
OneToMany
-- 30
  • 58 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia NUP98 29 30
  • 92.27 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NUP98 29 30
  • 91.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nup98 29 16 30
  • 89.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nup98 29
  • 88.88 (n)
Oppossum
(Monodelphis domestica)
Mammalia NUP98 30
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 77 (a)
OneToMany
-- 30
  • 75 (a)
OneToMany
NUP98 29
  • 73.37 (n)
Lizard
(Anolis carolinensis)
Reptilia NUP98 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nup98 29
  • 65.57 (n)
Str.6622 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.2522 29
Zebrafish
(Danio rerio)
Actinopterygii nup98 29 30
  • 62.83 (n)
OneToOne
zgc63593 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11018 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002351 29
  • 46.77 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Nup98-96 29 30
  • 45.73 (n)
OneToOne
CG10198 31
  • 29 (a)
Worm
(Caenorhabditis elegans)
Secernentea npp-10 30
  • 26 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NUP145 30
  • 23 (a)
OneToOne
NUP100 32
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SAR3 29
  • 43.72 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0172000 29
  • 41.76 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 38 (a)
OneToOne
Species where no ortholog for NUP98 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NUP98: view image
Alliance of Genome Resources:
Additional Orthologs for NUP98

Paralogs for NUP98 Gene

(1) SIMAP similar genes for NUP98 Gene using alignment to 11 proteins:

  • NUP98_HUMAN
  • E9PNN0_HUMAN
  • H0YCR0_HUMAN
  • H0YCT1_HUMAN
  • H0YDA1_HUMAN
  • H0YDF4_HUMAN
  • H0YEN4_HUMAN
  • H7BYP8_HUMAN
  • H7C3P6_HUMAN
  • J3KP29_HUMAN
  • Q9HDC8_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP98 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
992658 Benign: not specified 3,679,613(-) A/G
NM_016320.5(NUP98):c.5014T>C (p.Ser1672Pro)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1057519323 Likely Pathogenic: Hirschsprung disease 1 3,676,355(-) T/C
NM_016320.5(NUP98):c.5207A>G (p.Asn1736Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs111586358 Benign: not provided 3,683,214(-) C/T
NM_016320.5(NUP98):c.4904G>A (p.Arg1635Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs112872083 Benign: not provided 3,744,549(-) C/T
NM_016320.5(NUP98):c.1368G>A (p.Thr456=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON
rs137931987 Likely Benign: not provided 3,693,260(-) G/A
NM_016320.5(NUP98):c.4283C>T (p.Ala1428Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NUP98 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv578n106 OTHER inversion 24896259
esv2664722 CNV deletion 23128226
esv2744047 CNV deletion 23290073
esv2759796 CNV gain+loss 17122850
esv3625147 CNV gain 21293372
esv3625148 CNV gain 21293372
esv3625155 CNV loss 21293372
esv3891910 CNV gain 25118596
nsv1046356 CNV gain 25217958
nsv1070003 CNV deletion 25765185
nsv1136122 CNV deletion 24896259
nsv428247 CNV loss 18775914
nsv526441 CNV gain 19592680
nsv528141 CNV loss 19592680
nsv832051 CNV gain 17160897
nsv832052 CNV loss 17160897

Variation tolerance for NUP98 Gene

Residual Variation Intolerance Score: 73.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.65; 72.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUP98 Gene

Human Gene Mutation Database (HGMD)
NUP98
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP98
Leiden Open Variation Database (LOVD)
NUP98

SNP Genotyping and Copy Number Assays for research

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

Disorders for NUP98 Gene

MalaCards: The human disease database

(20) MalaCards diseases for NUP98 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
acute megakaryoblastic leukemia without down syndrome
  • non-ds-amkl
childhood acute myeloid leukemia
  • childhood acute myeloid leukaemia
myeloid leukemia
  • leukaemia myelogenous
myelodysplastic syndrome
  • mds
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search NUP98 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NUP98_HUMAN
  • Note=Chromosomal aberrations involving NUP98 have been found in acute myeloid leukemia. Translocation t(7;11)(p15;p15) with HOXA9 (PubMed:8563753). Translocation t(11;17)(p15;p13) with PHF23 (PubMed:17287853). {ECO:0000269 PubMed:17287853, ECO:0000269 PubMed:8563753}.
  • Note=A chromosomal aberration involving NUP98 has been found in M0 type acute myeloid leukemia. Translocation t(4;11)(q23;p15) with RAP1GDS1. {ECO:0000269 PubMed:16419055}.
  • Note=A chromosomal aberration involving NUP98 has been found in T-cell acute lymphocytic leukemia. Translocation t(4;11)(q23;p15) with RAP1GDS1. {ECO:0000269 PubMed:10477737}.
  • Note=A chromosomal aberration involving NUP98 has been found in M5 type acute myeloid leukemia. Translocation t(11;12)(p15;p13) with KDM5A. {ECO:0000269 PubMed:23531517}.
  • Note=Chromosomal aberrations involving NUP98 have been 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=Chromosomal aberrations involving NUP98 have been found in M7 type childhood acute myeloid leukemia. Translocation t(11;12)(p15;p13) with KDM5A. {ECO:0000269 PubMed:16419055, ECO:0000269 PubMed:23531517}.
  • 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}.

Additional Disease Information for NUP98

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NUP98: view

No data available for Genatlas for NUP98 Gene

Publications for NUP98 Gene

  1. Structural constraints on autoprocessing of the human nucleoporin Nup98. (PMID: 18287282) Sun Y … Guo HC (Protein science : a publication of the Protein Society 2008) 2 3 4 22
  2. t(9;11)(p22;p15) with NUP98-LEDGF fusion gene in pediatric acute myeloid leukemia. (PMID: 15725483) Morerio C … Panarello C (Leukemia research 2005) 3 4 22
  3. Nucleoporins as components of the nuclear pore complex core structure and Tpr as the architectural element of the nuclear basket. (PMID: 15229283) Krull S … Cordes VC (Molecular biology of the cell 2004) 3 4 22
  4. NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). (PMID: 11986249) Rosati R … Mecucci C (Blood 2002) 3 4 22
  5. The three-dimensional structure of the autoproteolytic, nuclear pore-targeting domain of the human nucleoporin Nup98. (PMID: 12191480) Hodel AE … Powers MA (Molecular cell 2002) 3 4 22

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