Protein-coding gene in the species Homo sapiens
NUP98 |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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List of PDB id codes |
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1KO6, 2Q5X, 2Q5Y, 3MMY, 4OWR, 5A9Q |
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Identifiers |
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Aliases | NUP98, ADIR2, NUP196, NUP96, nucleoporin 98kDa, nucleoporin 98 |
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External IDs | OMIM: 601021; MGI: 109404; HomoloGene: 35472; GeneCards: NUP98; OMA:NUP98 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 11 (human)[1] |
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| Band | 11p15.4 | Start | 3,671,083 bp[1] |
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End | 3,797,792 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 7 (mouse)[2] |
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| Band | 7 E2|7 54.71 cM | Start | 101,768,605 bp[2] |
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End | 101,859,383 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - left testis
- right testis
- epithelium of colon
- secondary oocyte
- ventricular zone
- muscle of thigh
- left ovary
- Achilles tendon
- left uterine tube
- upper lobe of left lung
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| Top expressed in | - secondary oocyte
- zygote
- spermatid
- primary oocyte
- vestibular membrane of cochlear duct
- tail of embryo
- internal carotid artery
- external carotid artery
- spermatocyte
- genital tubercle
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| More reference expression data |
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BioGPS |
| More reference expression data |
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Gene ontology |
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Molecular function | - transporter activity
- peptide binding
- protein binding
- nuclear localization sequence binding
- RNA binding
- peptidase activity
- serine-type peptidase activity
- hydrolase activity
- transcription coactivator activity
- mRNA binding
- promoter-specific chromatin binding
- structural constituent of nuclear pore
| Cellular component | - cytosol
- nuclear membrane
- nuclear envelope
- nuclear periphery
- membrane
- nuclear pore
- nuclear pore outer ring
- nuclear inclusion body
- nuclear pore nuclear basket
- nucleus
- kinetochore
- nuclear pore cytoplasmic filaments
- nucleoplasm
- intracellular membrane-bounded organelle
- nuclear body
- ribonucleoprotein complex
- host cell
| Biological process | - mRNA transport
- nuclear pore complex assembly
- DNA replication
- protein transport
- viral process
- nuclear pore organization
- posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery
- RNA export from nucleus
- telomere tethering at nuclear periphery
- mRNA export from nucleus
- protein import into nucleus
- proteolysis
- positive regulation of transcription by RNA polymerase II
- positive regulation of mRNA splicing, via spliceosome
- transcription by RNA polymerase II
- nucleocytoplasmic transport
- positive regulation of nucleic acid-templated transcription
- regulation of glycolytic process
- tRNA export from nucleus
- protein sumoylation
- viral transcription
- regulation of gene silencing by miRNA
- intracellular transport of virus
- regulation of cellular response to heat
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_005387 NM_016320 NM_139131 NM_139132 |
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NM_001287164 NM_001287165 NM_001287166 NM_001287167 NM_022979 |
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RefSeq (protein) | NP_005378 NP_057404 NP_624357 NP_624358 NP_001352054
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NP_001352055 NP_001352056 NP_001352057 NP_001352058 |
| NP_001274093 NP_001274094 NP_001274095 NP_001274096 NP_075355
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NP_001391063 NP_001391064 NP_001391065 NP_001391066 NP_001391067 NP_001391068 NP_001391069 NP_001391070 |
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Location (UCSC) | Chr 11: 3.67 – 3.8 Mb | Chr 7: 101.77 – 101.86 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Nuclear pore complex protein Nup98-Nup96 is a protein that in humans is encoded by the NUP98 gene.[5]
Function
Signal-mediated nuclear import and export proceed through the nuclear pore complex (NPC), which is composed of approximately 30 unique proteins collectively known as nucleoporins. The 98 kD nucleoporin is generated through a biogenesis pathway that involves synthesis and proteolytic cleavage of a 186 kD precursor protein. This cleavage results in the 98 kD nucleoporin as well as a 96 kD nucleoporin, both of which are localized to the nucleoplasmic side of the NPC. Rat studies show that the 98 kD 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.[6]
Interactions
NUP98 has been shown to interact with:
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000110713 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063550 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Arai Y, Hosoda F, Kobayashi H, Arai K, Hayashi Y, Kamada N, Kaneko Y, Ohki M (June 1997). "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". Blood. 89 (11): 3936–44. doi:10.1182/blood.V89.11.3936. PMID 9166830.
- ^ "Entrez Gene: NUP98 nucleoporin 98kDa".
- ^ Kasper LH, Brindle PK, Schnabel CA, Pritchard CE, Cleary ML, van Deursen JM (January 1999). "CREB binding protein interacts with nucleoporin-specific FG repeats that activate transcription and mediate NUP98-HOXA9 oncogenicity". Mol. Cell. Biol. 19 (1): 764–76. doi:10.1128/mcb.19.1.764. PMC 83933. PMID 9858599.
- ^ Moroianu J, Blobel G, Radu A (September 1997). "RanGTP-mediated nuclear export of karyopherin alpha involves its interaction with the nucleoporin Nup153". Proc. Natl. Acad. Sci. U.S.A. 94 (18): 9699–704. Bibcode:1997PNAS...94.9699M. doi:10.1073/pnas.94.18.9699. PMC 23253. PMID 9275187.
- ^ Bonifaci N, Moroianu J, Radu A, Blobel G (May 1997). "Karyopherin beta2 mediates nuclear import of a mRNA binding protein". Proc. Natl. Acad. Sci. U.S.A. 94 (10): 5055–60. Bibcode:1997PNAS...94.5055B. doi:10.1073/pnas.94.10.5055. PMC 24630. PMID 9144189.
- ^ Griffis ER, Xu S, Powers MA (February 2003). "Nup98 localizes to both nuclear and cytoplasmic sides of the nuclear pore and binds to two distinct nucleoporin subcomplexes". Mol. Biol. Cell. 14 (2): 600–10. doi:10.1091/mbc.E02-09-0582. PMC 149995. PMID 12589057.
- ^ Pritchard CE, Fornerod M, Kasper LH, van Deursen JM (April 1999). "RAE1 is a shuttling mRNA export factor that binds to a GLEBS-like NUP98 motif at the nuclear pore complex through multiple domains". J. Cell Biol. 145 (2): 237–54. doi:10.1083/jcb.145.2.237. PMC 2133102. PMID 10209021.
- ^ Fontoura BM, Blobel G, Yaseen NR (October 2000). "The nucleoporin Nup98 is a site for GDP/GTP exchange on ran and termination of karyopherin beta 2-mediated nuclear import". J. Biol. Chem. 275 (40): 31289–96. doi:10.1074/jbc.M004651200. PMID 10875935.
Further reading
- Slape C, Aplan PD (2004). "The role of NUP98 gene fusions in hematologic malignancy". Leuk. Lymphoma. 45 (7): 1341–50. doi:10.1080/10428190310001659325. PMID 15359631. S2CID 20926084.
- Moore MA, Chung KY, Plasilova M, Schuringa JJ, Shieh JH, Zhou P, Morrone G (2007). "NUP98 dysregulation in myeloid leukemogenesis". Ann. N. Y. Acad. Sci. 1106 (1): 114–42. Bibcode:2007NYASA1106..114M. doi:10.1196/annals.1392.019. PMID 17442773. S2CID 25039911.
- Radu A, Moore MS, Blobel G (1995). "The peptide repeat domain of nucleoporin Nup98 functions as a docking site in transport across the nuclear pore complex". Cell. 81 (2): 215–22. doi:10.1016/0092-8674(95)90331-3. PMID 7736573. S2CID 19024872.
- Nakamura T, Largaespada DA, Lee MP, Johnson LA, Ohyashiki K, Toyama K, Chen SJ, Willman CL, Chen IM, Feinberg AP, Jenkins NA, Copeland NG, Shaughnessy JD (1996). "Fusion of the nucleoporin gene NUP98 to HOXA9 by the chromosome translocation t(7;11)(p15;p15) in human myeloid leukaemia". Nat. Genet. 12 (2): 154–8. doi:10.1038/ng0296-154. PMID 8563753. S2CID 6400265.
- Borrow J, Shearman AM, Stanton VP, Becher R, Collins T, Williams AJ, Dubé I, Katz F, Kwong YL, Morris C, Ohyashiki K, Toyama K, Rowley J, Housman DE (1996). "The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9". Nat. Genet. 12 (2): 159–67. doi:10.1038/ng0296-159. PMID 8563754. S2CID 21252465.
- Hu T, Guan T, Gerace L (1996). "Molecular and functional characterization of the p62 complex, an assembly of nuclear pore complex glycoproteins". J. Cell Biol. 134 (3): 589–601. doi:10.1083/jcb.134.3.589. PMC 2120945. PMID 8707840.
- Stutz F, Izaurralde E, Mattaj IW, Rosbash M (1996). "A role for nucleoporin FG repeat domains in export of human immunodeficiency virus type 1 Rev protein and RNA from the nucleus". Mol. Cell. Biol. 16 (12): 7144–50. doi:10.1128/mcb.16.12.7144. PMC 231718. PMID 8943370.
- Yaseen NR, Blobel G (1997). "Cloning and characterization of human karyopherin beta3". Proc. Natl. Acad. Sci. U.S.A. 94 (9): 4451–6. Bibcode:1997PNAS...94.4451Y. doi:10.1073/pnas.94.9.4451. PMC 20743. PMID 9114010.
- Bonifaci N, Moroianu J, Radu A, Blobel G (1997). "Karyopherin beta2 mediates nuclear import of a mRNA binding protein". Proc. Natl. Acad. Sci. U.S.A. 94 (10): 5055–60. Bibcode:1997PNAS...94.5055B. doi:10.1073/pnas.94.10.5055. PMC 24630. PMID 9144189.
- Grandi P, Dang T, Pané N, Shevchenko A, Mann M, Forbes D, Hurt E (1997). "Nup93, a vertebrate homologue of yeast Nic96p, forms a complex with a novel 205-kDa protein and is required for correct nuclear pore assembly". Mol. Biol. Cell. 8 (10): 2017–38. doi:10.1091/mbc.8.10.2017. PMC 25664. PMID 9348540.
- Zolotukhin AS, Felber BK (1999). "Nucleoporins nup98 and nup214 participate in nuclear export of human immunodeficiency virus type 1 Rev". J. Virol. 73 (1): 120–7. doi:10.1128/JVI.73.1.120-127.1999. PMC 103815. PMID 9847314.
- Kasper LH, Brindle PK, Schnabel CA, Pritchard CE, Cleary ML, van Deursen JM (1999). "CREB binding protein interacts with nucleoporin-specific FG repeats that activate transcription and mediate NUP98-HOXA9 oncogenicity". Mol. Cell. Biol. 19 (1): 764–76. doi:10.1128/mcb.19.1.764. PMC 83933. PMID 9858599.
- Fontoura BM, Blobel G, Matunis MJ (1999). "A conserved biogenesis pathway for nucleoporins: proteolytic processing of a 186-kilodalton precursor generates Nup98 and the novel nucleoporin, Nup96". J. Cell Biol. 144 (6): 1097–112. doi:10.1083/jcb.144.6.1097. PMC 2150585. PMID 10087256.
- Pritchard CE, Fornerod M, Kasper LH, van Deursen JM (1999). "RAE1 is a shuttling mRNA export factor that binds to a GLEBS-like NUP98 motif at the nuclear pore complex through multiple domains". J. Cell Biol. 145 (2): 237–54. doi:10.1083/jcb.145.2.237. PMC 2133102. PMID 10209021.
- Ahuja HG, Felix CA, Aplan PD (1999). "The t(11;20)(p15;q11) chromosomal translocation associated with therapy-related myelodysplastic syndrome results in an NUP98-TOP1 fusion". Blood. 94 (9): 3258–61. doi:10.1182/blood.V94.9.3258. PMID 10556215.
- Bachi A, Braun IC, Rodrigues JP, Panté N, Ribbeck K, von Kobbe C, Kutay U, Wilm M, Görlich D, Carmo-Fonseca M, Izaurralde E (2000). "The C-terminal domain of TAP interacts with the nuclear pore complex and promotes export of specific CTE-bearing RNA substrates". RNA. 6 (1): 136–58. doi:10.1017/S1355838200991994. PMC 1369901. PMID 10668806.
- Fontoura BM, Blobel G, Yaseen NR (2000). "The nucleoporin Nup98 is a site for GDP/GTP exchange on ran and termination of karyopherin beta 2-mediated nuclear import". J. Biol. Chem. 275 (40): 31289–96. doi:10.1074/jbc.M004651200. PMID 10875935.
- Rodrigues JP, Sitterlin D, Bachi A, Wu X, Wilm M, Carmo-Fonseca M, Izaurralde E (2000). "Vesicular stomatitis virus matrix protein inhibits host cell gene expression by targeting the nucleoporin Nup98". Mol. Cell. 6 (5): 1243–52. doi:10.1016/S1097-2765(00)00120-9. PMID 11106761.
- Hofmann W, Reichart B, Ewald A, Müller E, Schmitt I, Stauber RH, Lottspeich F, Jockusch BM, Scheer U, Hauber J, Dabauvalle MC (2001). "Cofactor requirements for nuclear export of Rev response element (RRE)- and constitutive transport element (CTE)-containing retroviral RNAs. An unexpected role for actin". J. Cell Biol. 152 (5): 895–910. doi:10.1083/jcb.152.5.895. PMC 2198816. PMID 11238447.