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Aliases & Descriptions for NUP98
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ADAR2 3 ADIR2 2 NUP196 2 NUP96 1 , 2 Nup98-Nup96 2 OTTHUMP00000013819 2 OTTHUMP00000013967 2
Descriptions GLFG-repeat containing nucleoporin 2 nucleoporin 98kD 1 , 2 nucleoporin 98kDa 2
Search outside databases for aliases for NUP98 genePrevious GC identifers: GC11M004267 GC11M003962 GC11M003655 GC11M003660
Summaries for NUP98 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for NUP98 : Signal-mediated nuclear import and export proceed through the nuclear pore complex (NPC), which iscomprised of approximately 50 unique proteins collectively known as nucleoporins. The 98 kDnucleoporin is generated through a biogenesis pathway that involves synthesis and proteolyticcleavage of a 186 kD precursor protein. This cleavage results in the 98 kD nucleoporin as well asa 96 kD nucleoporin, both of which are localized to the nucleoplasmic side of the NPC. Rat studiesshow that the 98 kD nucleoporin functions as one of several docking site nucleoporins of transportsubstrates. The human gene has been shown to fuse to several genes following chromsometranslocatons 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 importanttumor-suppressor gene region. Alterations in this region have been associated with theBeckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung,ovarian, and breast cancer. Alternative splicing of this gene results in several transcriptvariants; however, not all variants have been fully described. [provided by RefSeq] UniProtKB/Swiss-Prot: NUP98_HUMAN, P52948 Function : Nup98 and Nup96 play a role in the bidirectional transport across the nucleoporin complex(NPC). The repeat domain in Nup98 has a direct role in the transport
Gene Wiki entry for NUP98
Genomic Location for NUP98
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the NUP98 gene Entrez Gene cytogenetic band: 11p15.5 Ensembl cytogenetic band: 11p15.4 HGNC cytogenetic band: 11p15 NUP98 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure
GeneLoc location for GC11M003652:
(about GC identifiers )
Start:
3,652,816 bp from pter
End:
3,775,468 bp from pter
Size:
122,653 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000011.8 NT_009237.17 Proteins for NUP98
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: NUP98_HUMAN, P52948 (See
protein sequence )Recommended Name: Nuclear pore complex protein Nup98-Nup96 precursor Size : 1729 amino acids; 187790 Da
Subunit : Nup98 interacts directly with Nup96. Nup96 is part of the Nup160 subcomplex in the nuclearpore which is composed of Nup160, Nup133, Nup107 and Nup96. This complex plays a role in RNAexport and in tethering Nup98 and Nup153 to the nucleus. May interact with RAE1. Interacts withvesicular stomatitis virus protein M
Subcellular location : Nucleus, nuclear pore complex. Nucleus membrane; Peripheral membrane protein;Nucleoplasmic side. Note=Nup96 is localized to the nucleoplasmic side of the nuclear pore complex,at or near the nucleoplasmic basket
Sequence caution : Sequence=AAF19342.1; Type=Frameshift; Positions=1551;
PDB structures from and Proteopedia : 1KO6 (3D)
 2Q5X (3D)
 2Q5Y (3D)
 
Secondary accessions : Q8IUT2 Q8WYB0 Q96E54 Q9H3Q4 Q9NT02 Q9UF57 Q9UHX0 Q9Y6J4 Q9Y6J5Alternative splicing : 5 isoforms : P52948-1 P52948-2 P52948-3 P52948-4 P52948-5
Post-translational modifications:
Isoform 1 to isoform 4 are autoproteolytically cleaved to yield Nup98 and Nup96 or Nup98 only,respectively. Cleaved Nup98 is necessary for the targeting of Nup98 to the nuclear pore and theinteraction with Nup961
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (4 alternative transcripts):
NP_005378.4 NP_057404.2 NP_624357.1 NP_624358.2 ENSEMBL proteins: ENSP00000380202 ENSP00000380213 ENSP00000347404 ENSP00000380199 ENSP00000380208 ENSP00000352091 ENSP00000316032 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for NUP98: Assays for NUP98:
Protein
Domains/ Families for NUP98(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P52948 ProtoNet protein and cluster: P52948
1 Blocks protein family : IPB007230 Nucleoporin autopeptidase UniProtKB/Swiss-Prot: NUP98_HUMAN, P52948 Domain : Contains G-L-F-G repeatsSimilarity : Belongs to the nucleoporin GLFG familySimilarity : Contains 1 peptidase S59 domain
Gene Function for NUP98
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_139131 Applied Biosystems Silencer ® siRNAs for NUP98 Sigma-Aldrich siRNA and siRNA Panels for NUP98 Sigma-Aldrich shRNA for NUP98 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_005387                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_005387                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_005387  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_016320 UniProtKB/Swiss-Prot: NUP98_HUMAN, P52948 Function : Nup98 and Nup96 play a role in the bidirectional transport across the nucleoporin complex(NPC). The repeat domain in Nup98 has a direct role in the transport
Genatlas biochemistry entry for NUP98 :nucleoporin,essential component of multiple RNA export pathway,unlikely involved in the nuclearimport of protein,fused with HOX9D in acute myeloid leukemia with translocation t(7;11)(p15;p15),and with DDX10 in de novo or therapy related myeloid malignancies with HOXD13 intranslocation t(2;11) (q35;p15) with inv11(p15-q22) and with PMX1 in translocation t(1;11)(q23;p15),with RAP1GDS1 in t(4;11)(q21;p15) in T cell acute lymphocitic leukemia,fused with TOP1in t(11;20)(p15;q11) in therapy related myelodysplastic syndrome
5 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Nup98) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for NUP98
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for NUP98 5/152 Interacting proteins for NUP98 (ENSP00000316032 3 P52948 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 152
)About this table 5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8
):
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Drugs & Compounds for NUP98 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for NUP98 2 Novoseek chemical compound relationships for NUP98 gene
About this table 2 PharmGKB drug compound relationships for NUP98 gene About this table
Transcripts for NUP98(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_139131 Sigma-Aldrich siRNA and siRNA Panels for NUP98 Sigma-Aldrich shRNA for NUP98 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_005387 NM_016320 NM_139131 NM_139132
REFSEQ mRNAs for NUP98 gene (4 alternative transcripts): NM_005387.4 NM_016320.3 NM_139131.2 NM_139132.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005387 NM_016320 NM_139131 NM_139132
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_005387                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_005387                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_005387  
Additional cDNA sequence: AB040538.1 AF071076.1 AF071077.1 AF116074.1 AF231130.1 AK292882.1 AK301512.1 AL133601.1 AL137613.1 BC012906.1 BC041136.1 BT007349.1 CR591489.1 U41815.1
24/27 DOTS entries (see all 27
): DT.117788 DT.95305850 DT.100745542 DT.91769481 DT.100801254 DT.97809667 DT.100801237 DT.95305846 DT.91769485 DT.92040153 DT.120744135 DT.120744288 DT.120744689 DT.86852639 DT.86853246 DT.91769490 DT.95318918 DT.100739046 DT.120744398 DT.75101527 DT.91769491 DT.91769492 DT.95182995 DT.91731843
24/347 AceView cDNA sequences (see all 347
):AI688252 CA309884 CF529822 BX100390 BQ017277 CA425764 BU740255 BM669479 CA313022 AA911168 AI811431 AA628304 AW296195 BQ063272 BQ009431 BM068860 CB216507 AI741120 AW102986 CF541172 CO247236 AA612909 BG763331 CD369751
highest scoring ESTs for NUP98 :BG773331 BI462442 BI823848 BM828729 BX423204 BX439931 AB040538 AF071076 AF071077 AF231130
Unigene Cluster for NUP98: Nucleoporin 98kDa Hs.524750 [show with all ESTs ] Unigene Representative Sequence: NM_016320 GeneLoc Exon Structure 5/13 Alternative Splicing Database (ASD) splice patterns (SP) for NUP98 (see all 13
) 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 :                                                    
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 :                                                    
ExUns: 34a · 34b · 34c · 34d SP1 :         SP2 :         SP3 :         SP4 :         SP5 :        
About this scheme ECgene alternative splicing isoforms for NUP98 7 Ensembl transcripts including schematic representations : ENST00000397007
ENST00000397018
ENST00000355260
ENST00000397004
ENST00000397013
ENST00000359171
ENST00000324932
Expression for NUP98
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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NUP98 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for NUP98 1 / 2 / 3
10 probe-sets matching NUP98 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AAGATAATGTSOURCE GeneReport for Unigene cluster: Hs.524750 Expression variation in blood from EXPOLDB for NUP98
Orthologs for NUP98
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for NUP98 gene from 5/16 species (see all 16
)
About this table Species with no ortholog for NUP98 ENSEMBL Gene Tree for NUP98 Paralogs for NUP98 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for NUP98 gene ENSG00000205578 2 POM121C 2 POM121 2 POM121L2 2
SNPs/Variants for NUP98 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for NUP98 (up to first 250kb)
Disorders & Mutations for NUP98
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 601021 UniProtKB/Swiss-Prot: NUP98_HUMAN, P52948
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 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 A chromosomal aberration involving NUP98 is found in a form of therapy-relatedmyelodysplastic syndrome. Translocation t(11;20)(p15;q11) with TOP1 A chromosomal aberration involving NUP98 is found in a form of T-cell acute lymphoblasticleukemia (T-ALL). Translocation t(3;11)(q12.2;p15.4) with LNP1 A chromosomal aberration involving NUP98 is associated with pediatric acute myeloidleukemia (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-framefusion of NUP98 exon 8 to PSIP1/LEDGF exon 4
10/16 Novoseek disease relationships for NUP98 gene (see all 16
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
leukemogenesis
83.46
8
15193442 (1), 19380029 (1), 12810632 (1), 17442773 (1) (see all 6 )
aml childhood
73.99
5
15951287 (2), 11493482 (1), 15725483 (1), 12353270 (1)
myelodysplastic syndromes
73.79
10
17988990 (2), 11681408 (2), 10830185 (1), 10502319 (1) (see all 8 )
hematologic malignancies
65.78
11
16467868 (1), 17988990 (1), 12183408 (1), 16419055 (1) (see all 11 )
leukemia
63.81
17
15390187 (2), 17233820 (2), 16105755 (2), 10929031 (1) (see all 14 )
t-all
63.75
12
12810632 (3), 17233820 (2), 16467868 (1), 10477737 (1) (see all 5 )
aml adult
63.53
1
12619167 (1)
chromosomal aberrations
59.99
6
10565304 (1), 10700860 (1), 11850070 (1), 16419055 (1) (see all 6 )
myeloid leukemia
55.89
3
18604245 (1), 15454493 (1), 16028218 (1)
hematopoietic malignancies
54.23
3
16467868 (2), 15951287 (1)
About this table 1 PharmGKB disease relationship for NUP98 gene About this table Human Genome Epidemiology Navigator: NUP98 (1 document)
Medical News for NUP98 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for NUP98 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/148 PubMed articles for NUP98 gene (see all 148
): Novel vertebrate nucleoporins Nup133 and Nup160 play a role in mRNA export. (PubMed id 11684705) 1, 3, 4 Vasu S.... Forbes D.J. (2001) NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). (PubMed id 11986249) 1, 3, 4 Rosati R.... Mecucci C. (2002) The inv(11)(p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10. (PubMed id 9166830) 1, 2, 3 Arai Y....Ohki M. (1997) A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. (PubMed id 11493482) 1, 3, 4 Jaju R.J....Wainscoat J.S. (2001) The t(11;20)(p15;q11) chromosomal translocation associated with therapy-related myelodysplastic syndrome results in an NUP98-TOP1 fusion. (PubMed id 10556215) 1, 3, 4 Ahuja H.G.... Aplan P.D. (1999) The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9. (PubMed id 8563754) 1, 3, 4 Borrow J.... Housman D.E. (1996) t(9;11)(p22;p15) with NUP98-LEDGF fusion gene in pediatric acute myeloid leukemia. (PubMed id 15725483) 1, 3, 4 Morerio C.... Panarello C. (2005) The three-dimensional structure of the autoproteolytic, nuclear pore- targeting domain of the human nucleoporin Nup98. (PubMed id 12191480) 1, 3, 4 Hodel A.E....Powers M.A. (2002) A novel NUP98-PHF23 fusion resulting from a cryptic translocation t(11;17)(p15;p13) in acute myeloid leukemia. (PubMed id 17287853) 3, 4 Reader J.C.... Ning Y. (2007) A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243) 3, 4 Beausoleil S.A.... Gygi S.P. (2006)
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