Nup98 nucleoporin 98 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nup98provided by MGI
Official Full Name: nucleoporin 98provided by MGI
Primary source: MGI:MGI:109404
See related: Ensembl:ENSMUSG00000063550 AllianceGenome:MGI:109404
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Nup96; 4732457F17
Summary: Predicted to enable several functions, including nuclear localization sequence binding activity; promoter-specific chromatin binding activity; and transcription coactivator activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in nuclear pore complex assembly; positive regulation of mRNA splicing, via spliceosome; and protein import into nucleus. Predicted to act upstream of or within mRNA transport; protein transport; and proteolysis. Located in nucleus. Is expressed in several structures, including nervous system and neural retina. Human ortholog(s) of this gene implicated in T-cell acute lymphoblastic leukemia. Orthologous to human NUP98 (nucleoporin 98 and 96 precursor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis adult (RPKM 45.3), placenta adult (RPKM 7.7) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 E2; 7 54.71 cM

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (101768607..101859359, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (102119400..102210166, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The menin-MLL1 interaction is a molecular dependency in NUP98-rearranged AML.
Title: The menin-MLL1 interaction is a molecular dependency in NUP98-rearranged AML.
TLR2/6 signaling promotes the expansion of premalignant hematopoietic stem and progenitor cells in the NUP98-HOXD13 mouse model of MDS.
Title: TLR2/6 signaling promotes the expansion of premalignant hematopoietic stem and progenitor cells in the NUP98-HOXD13 mouse model of MDS.
RAE1 and NUP98 participate inBMAL1 shuttling and promote the degradation and activity of BMAL1 and CLOCK.
Title: RAE1 promotes BMAL1 shuttling and regulates degradation and activity of CLOCK: BMAL1 heterodimer.
NHD13 transgenic mice lacking Lyl1 showed accelerated T-ALL and absence of transformation to AML, associated with a loss of multipotent progenitors in the bone marrow.
Title: The NUP98-HOXD13 fusion oncogene induces thymocyte self-renewal via Lmo2/Lyl1.
We demonstrated that Nup98-TopIIbeta and Nup98-SETBP1 negatively regulate the XPO1-mediated protein export. Our results will contribute to the understanding of the molecular mechanism by which the Nup98-fusion proteins induce tumorigenesis.
Title: Function of Nup98 subtypes and their fusion proteins, Nup98-TopIIβ and Nup98-SETBP1 in nuclear-cytoplasmic transport.
The age-associated accumulation of somatic mutations that occurs in the Nup98-HOXD13 (NHD13) mouse model of leukemia progression was significantly elevated by co-expression of a PKR transgene.
Title: PKR inhibits the DNA damage response, and is associated with poor survival in AML and accelerated leukemia in NHD13 mice.
Nup50 dynamics are independent of importin alpha, Nup153, and Nup98, even though the latter two proteins also exhibit transcription-dependent mobility.
Title: Nup50 is required for cell differentiation and exhibits transcription-dependent dynamics.
Data indicate that loss of cyclin-dependent kinase inhibitor p15 (p15Ink4b) collaborates with oncogene fusion protein Nup98-HoxD13 transgene in the development of predominantly myeloid neoplasms.
Title: Brief report: Loss of p15Ink4b accelerates development of myeloid neoplasms in Nup98-HoxD13 transgenic mice.
Homeobox partners create more potent NUP98 fusion oncogenes than do non-homeobox partners.
Title: The fusion partner specifies the oncogenic potential of NUP98 fusion proteins.
expression of NHD13 fusion gene resulted in impaired NHEJ-mediated DNA break repair.
Title: Non-homologous end joining mediated DNA repair is impaired in the NUP98-HOXD13 mouse model for myelodysplastic syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

AI849286 (e-PCR)
- UniSTS:179617

Nup98 (e-PCR), detects polymorphism
- UniSTS:479183

NoName (e-PCR)
- UniSTS:235727

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables mRNA binding	ISO Inferred from Sequence Orthology more info
enables molecular condensate scaffold activity	ISO Inferred from Sequence Orthology more info
enables nuclear localization sequence binding	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear localization sequence binding	ISO Inferred from Sequence Orthology more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables peptide binding	ISO Inferred from Sequence Orthology more info
enables promoter-specific chromatin binding	ISO Inferred from Sequence Orthology more info
enables serine-type peptidase activity	IEA Inferred from Electronic Annotation more info
enables structural constituent of nuclear pore	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of nuclear pore	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in RNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mRNA transport	IEA Inferred from Electronic Annotation more info
involved_in nuclear pore complex assembly	ISO Inferred from Sequence Orthology more info
involved_in nucleocytoplasmic transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mRNA splicing, via spliceosome	ISO Inferred from Sequence Orthology more info
involved_in post-transcriptional tethering of RNA polymerase II gene DNA at nuclear periphery	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into nucleus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in telomere tethering at nuclear periphery	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
colocalizes_with kinetochore	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nuclear inclusion body	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear periphery	ISO Inferred from Sequence Orthology more info
part_of nuclear pore	ISO Inferred from Sequence Orthology more info
part_of nuclear pore cytoplasmic filaments	IBA Inferred from Biological aspect of Ancestor more info
part_of nuclear pore nuclear basket	ISO Inferred from Sequence Orthology more info
part_of nuclear pore outer ring	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of ribonucleoprotein complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: nuclear pore complex protein Nup98-Nup96

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001287164.2 → NP_001274093.1 nuclear pore complex protein Nup98-Nup96 isoform 1 precursor

See identical proteins and their annotated locations for NP_001274093.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC118592

Consensus CDS

CCDS85358.1

UniProtKB/Swiss-Prot

Q68G59, Q6PFD9

UniProtKB/TrEMBL

A0A1B0GSX7

Related

ENSMUSP00000148115.2, ENSMUST00000210682.2

Conserved Domains (3) summary

pfam04096
Location:740 → 880

Nucleoporin2; Nucleoporin autopeptidase

pfam12110
Location:1333 → 1622

Nup96; Nuclear protein 96

pfam13634
Location:40 → 149

Nucleoporin_FG; Nucleoporin FG repeat region
NM_001287165.2 → NP_001274094.1 nuclear pore complex protein Nup98-Nup96 isoform 3

See identical proteins and their annotated locations for NP_001274094.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) has multiple coding region differences compared to variant 1 and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' UTR, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC118592

Consensus CDS

CCDS85360.1

UniProtKB/TrEMBL

B2RQL0, B7ZN81

Related

ENSMUSP00000147486.2, ENSMUST00000211235.2

Conserved Domains (2) summary

pfam04096
Location:723 → 863

Nucleoporin2; Nucleoporin autopeptidase

pfam13634
Location:69 → 161

Nucleoporin_FG; Nucleoporin FG repeat region
NM_001287166.2 → NP_001274095.1 nuclear pore complex protein Nup98-Nup96 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) has multiple coding region differences compared to variant 1 and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' UTR, compared to variant 1. It encodes isoform 4 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC118592

Consensus CDS

CCDS85359.1

UniProtKB/TrEMBL

A0A1B0GRB5, Q3UJE5

Related

ENSMUSP00000147454.2, ENSMUST00000211022.2

Conserved Domains (2) summary

pfam04096
Location:723 → 863

Nucleoporin2; Nucleoporin autopeptidase

pfam13634
Location:69 → 161

Nucleoporin_FG; Nucleoporin FG repeat region
NM_001287167.2 → NP_001274096.1 nuclear pore complex protein Nup98-Nup96 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, lacks several exons, and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' UTR, compared to variant 1. It encodes isoform 5 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC118592

Consensus CDS

CCDS85357.1

UniProtKB/TrEMBL

A0A1B0GRA7, Q3UJE5

Related

ENSMUSP00000147445.2, ENSMUST00000211005.2

Conserved Domains (2) summary

pfam04096
Location:740 → 880

Nucleoporin2; Nucleoporin autopeptidase

pfam13634
Location:69 → 161

Nucleoporin_FG; Nucleoporin FG repeat region
NM_001404134.1 → NP_001391063.1 nuclear pore complex protein Nup98-Nup96 isoform 6

Status: VALIDATED

Source sequence(s)

AC118592
NM_001404135.1 → NP_001391064.1 nuclear pore complex protein Nup98-Nup96 isoform 6

Status: VALIDATED

Source sequence(s)

AC118592
NM_001404136.1 → NP_001391065.1 nuclear pore complex protein Nup98-Nup96 isoform 7

Status: VALIDATED

Source sequence(s)

AC118592
NM_001404137.1 → NP_001391066.1 nuclear pore complex protein Nup98-Nup96 isoform 3

Status: VALIDATED

Source sequence(s)

AC118592

UniProtKB/TrEMBL

B2RQL0
NM_001404138.1 → NP_001391067.1 nuclear pore complex protein Nup98-Nup96 isoform 8

Status: VALIDATED

Source sequence(s)

AC118592
NM_001404139.1 → NP_001391068.1 nuclear pore complex protein Nup98-Nup96 isoform 9

Status: VALIDATED

Source sequence(s)

AC118592
NM_001404140.1 → NP_001391069.1 nuclear pore complex protein Nup98-Nup96 isoform 5

Status: VALIDATED

Source sequence(s)

AC118592

UniProtKB/TrEMBL

A0A1B0GRA7
NM_001404141.1 → NP_001391070.1 nuclear pore complex protein Nup98-Nup96 isoform 10

Status: VALIDATED

Source sequence(s)

AC118592
NM_022979.3 → NP_075355.1 nuclear pore complex protein Nup98-Nup96 isoform 2

See identical proteins and their annotated locations for NP_075355.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC118592

Consensus CDS

CCDS21528.1

UniProtKB/TrEMBL

A0A140T8J8, B7ZN81

Related

ENSMUSP00000068530.6, ENSMUST00000070165.7

Conserved Domains (2) summary

pfam04096
Location:740 → 880

Nucleoporin2; Nucleoporin autopeptidase

pfam13634
Location:69 → 161

Nucleoporin_FG; Nucleoporin FG repeat region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

101768607..101859359 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006507897.3 → XP_006507960.1 nuclear pore complex protein Nup98-Nup96 isoform X3

UniProtKB/Swiss-Prot

Q68G59, Q6PFD9

Conserved Domains (3) summary

pfam04096
Location:693 → 833

Nucleoporin2; Nucleoporin autopeptidase

pfam12110
Location:1286 → 1575

Nup96; Nuclear protein 96

pfam13634
Location:40 → 149

Nucleoporin_FG; Nucleoporin FG repeat region
XM_006507895.3 → XP_006507958.1 nuclear pore complex protein Nup98-Nup96 isoform X1

See identical proteins and their annotated locations for XP_006507958.1

UniProtKB/Swiss-Prot

Q68G59, Q6PFD9

UniProtKB/TrEMBL

A0A1B0GSX7

Conserved Domains (3) summary

pfam04096
Location:740 → 880

Nucleoporin2; Nucleoporin autopeptidase

pfam12110
Location:1333 → 1622

Nup96; Nuclear protein 96

pfam13634
Location:40 → 149

Nucleoporin_FG; Nucleoporin FG repeat region