InnateDB Protein
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IDBP-236233.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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NUP98
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Protein Name
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nucleoporin 98kDa
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Synonyms
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ADIR2; NUP196; NUP96;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000380199
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InnateDB Gene
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IDBG-24385 (NUP98)
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Protein Structure
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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. {ECO:0000269PubMed:15229283}.
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Subcellular Localization |
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.
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Disease Associations |
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:0000269PubMed: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:0000269PubMed: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:0000269PubMed: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:0000269PubMed: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:0000269PubMed: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:0000269PubMed:16028218}.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 61 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
61
[view]
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Protein-Protein |
60
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007230
Peptidase S59, nucleoporin
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PFAM |
PF04096
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P52948
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PhosphoSite |
PhosphoSite-P52948
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TrEMBL |
Q9HDC8
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UniProt Splice Variant |
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Entrez Gene |
4928
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UniGene |
Hs.524750
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RefSeq |
NP_624357
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HUGO |
HGNC:8068
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OMIM |
601021
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CCDS |
CCDS41606
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HPRD |
03012
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IMGT |
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EMBL |
AB038344
AB040538
AC060812
AC090587
AF071076
AF071077
AF116074
AF231130
AL133601
AL137613
BC012906
BC041136
BT007349
U41815
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GenPept |
AAC50366
AAD22395
AAD22396
AAF19342
AAH12906
AAH41136
AAL56659
AAP36013
BAB11850
BAB18537
CAB63736
CAB70842
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