InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NUP98

Summary

InnateDB Protein

IDBP-236231.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NUP98

Protein Name

nucleoporin 98kDa

Synonyms

ADIR2; NUP196; NUP96;

Species

Homo sapiens

Ensembl Protein

ENSP00000380202

InnateDB Gene

IDBG-24385 (NUP98)

Protein Structure

UniProt Annotation

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}.

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.

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}.

Tissue Specificity

Comments

Interactions

Number of Interactions

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]
Protein-Protein	60 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005515	protein binding
GO:0017056	structural constituent of nuclear pore

Biological Process

GO:0000059	protein import into nucleus, docking
GO:0000278	mitotic cell cycle
GO:0005975	carbohydrate metabolic process
GO:0006260	DNA replication
GO:0006810	transport
GO:0006913	nucleocytoplasmic transport
GO:0006999	nuclear pore organization
GO:0007077	mitotic nuclear envelope disassembly
GO:0008645	hexose transport
GO:0010827	regulation of glucose transport
GO:0015758	glucose transport
GO:0016032	viral process
GO:0019221	cytokine-mediated signaling pathway
GO:0044281	small molecule metabolic process
GO:0051028	mRNA transport
GO:0051292	nuclear pore complex assembly
GO:0055085	transmembrane transport

Cellular Component

GO:0000776	kinetochore
GO:0005635	nuclear envelope
GO:0005643	nuclear pore
GO:0005654	nucleoplasm
GO:0005829	cytosol
GO:0031080	nuclear pore outer ring
GO:0031965	nuclear membrane
GO:0034399	nuclear periphery
GO:0042405	nuclear inclusion body
GO:0044615	nuclear pore nuclear basket