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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]
NUP98 (Nucleoporin 98 And 96 Precursor) is a Protein Coding gene. Diseases associated with NUP98 include Childhood Acute Myeloid Leukemia and Myeloid Leukemia. Among its related pathways are Transport of the SLBP independent Mature mRNA and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transporter activity and structural constituent of nuclear pore.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003713 | transcription coactivator activity | IMP | 28221134 |
GO:0003723 | RNA binding | IBA | -- |
GO:0003729 | mRNA binding | IMP | 28221134 |
GO:0005215 | transporter activity | TAS | 7736573 |
GO:0005515 | protein binding | IPI | 9348540 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000776 | colocalizes_with kinetochore | IDA | 15146057 |
GO:0005634 | nucleus | IEA | -- |
GO:0005635 | nuclear envelope | IDA,TAS | -- |
GO:0005643 | nuclear pore | NAS | 10087256 |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of the SLBP independent Mature mRNA |
.55
|
|
2 | HIV Life Cycle |
.91
.65
|
.45
|
3 | Cell Cycle, Mitotic |
.83
|
.60
|
4 | Mitotic Prophase |
.57
|
|
5 | Influenza Viral RNA Transcription and Replication |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000973 | posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery | IBA | -- |
GO:0006110 | regulation of glycolytic process | TAS | -- |
GO:0006405 | RNA export from nucleus | IBA | -- |
GO:0006406 | mRNA export from nucleus | TAS | -- |
GO:0006409 | tRNA export from nucleus | TAS | -- |
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NUP98 31 |
|
OneToOne | |
LOC100609884 30 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | NUP98 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NUP98 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nup98 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nup98 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | NUP98 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
NUP98 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | NUP98 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nup98 30 |
|
||
Str.6622 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2522 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nup98 30 31 |
|
OneToOne | |
zgc63593 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11018 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002351 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Nup98-96 30 31 |
|
OneToOne | |
CG10198 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | npp-10 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NUP145 31 |
|
OneToOne | |
NUP100 33 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SAR3 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0172000 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691483 | Uncertain Significance: Hirschsprung disease | 3,712,669(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
710736 | Benign: not provided | 3,705,217(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
718546 | Benign: not provided | 3,683,214(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
726791 | Benign: not provided | 3,676,333(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
726792 | Benign: not provided | 3,768,677(-) | G/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
childhood acute myeloid leukemia |
|
|
myeloid leukemia |
|
|
myelodysplastic syndrome |
|
|
t-cell acute lymphoblastic leukemia |
|
|
influenza |
|
|