Homo sapiens Gene: NUP98
Summary
InnateDB Gene IDBG-24385.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NUP98
Gene Name nucleoporin 98kDa
Synonyms ADIR2; NUP196; NUP96
Species Homo sapiens
Ensembl Gene ENSG00000110713
Encoded Proteins
nucleoporin 98kDa
nucleoporin 98kDa
nucleoporin 98kDa
nucleoporin 98kDa
nucleoporin 98kDa
nucleoporin 98kDa
nucleoporin 98kDa
nucleoporin 98kDa
nucleoporin 98kDa
nucleoporin 98kDa
nucleoporin 98kDa
nucleoporin 98kDa
nucleoporin 98kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Signal-mediated nuclear import and export proceed through the nuclear pore complex (NPC), which is comprised of approximately 50 unique proteins collectively known as nucleoporins. The 98 kDa nucleoporin is generated through a biogenesis pathway that involves synthesis and proteolytic cleavage of a 186 kDa precursor protein. This cleavage results in the 98 kDa nucleoporin as well as a 96 kDa nucleoporin, both of which are localized to the nucleoplasmic side of the NPC. Rat studies show that the 98 kDa nucleoporin functions as one of several docking site nucleoporins of transport substrates. The human gene has been shown to fuse to several genes following chromosome translocations in acute myelogenous leukemia (AML) and T-cell acute lymphocytic leukemia (T-ALL). This gene is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:3671083-3797792
Strand Reverse strand
Band p15.4
Transcripts
ENST00000359171 ENSP00000352091
ENST00000324932 ENSP00000316032
ENST00000355260 ENSP00000347404
ENST00000397013 ENSP00000380208
ENST00000397007 ENSP00000380202
ENST00000397004 ENSP00000380199
ENST00000429801 ENSP00000413146
ENST00000469881
ENST00000482690
ENST00000488828
ENST00000483285
ENST00000461047
ENST00000533346 ENSP00000432275
ENST00000524563 ENSP00000433515
ENST00000530345
ENST00000529063 ENSP00000433226
ENST00000530516
ENST00000527104 ENSP00000436226
ENST00000529379 ENSP00000432142
ENST00000532475 ENSP00000434698
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
GO:0042277 peptide binding
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:0005634 nucleus
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
RNA transport pathway
INOH
PID NCI
Cross-References
SwissProt P52948
TrEMBL E9PNN0 Q9HDC8
UniProt Splice Variant
Entrez Gene 4928
UniGene Hs.524750
RefSeq NM_005387 NM_016320 NM_139131 NM_139132 XM_005252950
HUGO HGNC:8068
OMIM 601021
CCDS CCDS31347 CCDS41605 CCDS41606 CCDS7746
HPRD
IMGT
EMBL AB038344 AB040538 AC060812 AC090587 AF071076 AF071077 AF116074 AF231130 AL133601 AL137613 BC012906 BC041136 BT007349 U41815
GenPept AAC50366 AAD22395 AAD22396 AAF19342 AAH12906 AAH41136 AAL56659 AAP36013 BAB11850 BAB18537 CAB63736 CAB70842
RNA Seq Atlas 4928