5a9q: Difference between revisions

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==Human nuclear pore complex==

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[[http://www.uniprot.org/uniprot/NUP98_HUMAN NUP98_HUMAN]] 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. 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. Note=A chromosomal aberration involving NUP98 is found in a form of therapy-related myelodysplastic syndrome. Translocation t(11;20)(p15;q11) with TOP1. 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. 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. [[http://www.uniprot.org/uniprot/NU155_HUMAN NU155_HUMAN]] Familial atrial fibrillation. The disease is caused by mutations affecting the gene represented in this entry.

== Function ==

[[http://www.uniprot.org/uniprot/NUP98_HUMAN NUP98_HUMAN]] Nup98 and Nup96 play a role in the bidirectional transport across the nucleoporin complex (NPC). The FG repeat domains in Nup98 have a direct role in the transport. [[http://www.uniprot.org/uniprot/NUP37_HUMAN NUP37_HUMAN]] Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.<ref>PMID:17363900</ref> [[http://www.uniprot.org/uniprot/SEC13_HUMAN SEC13_HUMAN]] Functions as a component of the nuclear pore complex (NPC) and the COPII coat. At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles.<ref>PMID:8972206</ref> [[http://www.uniprot.org/uniprot/NUP85_HUMAN NUP85_HUMAN]] Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance. As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP98/Nup98 and NUP153 to the nucleus. The Nup107-160 complex seems to be required for spindle assembly during mitosis. NUP85 is required for membrane clustering of CCL2-activated CCR2. Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade.<ref>PMID:12718872</ref> <ref>PMID:15995708</ref> <ref>PMID:16807356</ref> [[http://www.uniprot.org/uniprot/NU160_HUMAN NU160_HUMAN]] Involved in poly(A)+ RNA transport.<ref>PMID:11684705</ref> [[http://www.uniprot.org/uniprot/SEH1_HUMAN SEH1_HUMAN]] Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore. As a component of the GATOR2 complex, inhibits GATOR1 complex, an inhibitor of the amino acid-sensing branch of the TORC1 pathway.<ref>PMID:15146057</ref> <ref>PMID:17363900</ref> <ref>PMID:23723238</ref> [[http://www.uniprot.org/uniprot/NUP43_HUMAN NUP43_HUMAN]] Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.<ref>PMID:17363900~~</ref> [[http://www.uniprot.org/uniprot/NU133_HUMAN NU133_HUMAN]] Involved in poly(A)+ RNA transport.<ref>PMID:11684705~~</ref> [[http://www.uniprot.org/uniprot/NU155_HUMAN NU155_HUMAN]] Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport.[UniProtKB:Q99P88] [[http://www.uniprot.org/uniprot/NU107_HUMAN NU107_HUMAN]] Essential component of nuclear pore complex. Required for the assembly of peripheral proteins into the nuclear pore complex.<ref>PMID:12552102</ref>

[[http://www.uniprot.org/uniprot/NUP98_HUMAN NUP98_HUMAN]] Nup98 and Nup96 play a role in the bidirectional transport across the nucleoporin complex (NPC). The FG repeat domains in Nup98 have a direct role in the transport. [[http://www.uniprot.org/uniprot/NUP37_HUMAN NUP37_HUMAN]] Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.<ref>PMID:17363900</ref> [[http://www.uniprot.org/uniprot/SEC13_HUMAN SEC13_HUMAN]] Functions as a component of the nuclear pore complex (NPC) and the COPII coat. At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles.<ref>PMID:8972206</ref> [[http://www.uniprot.org/uniprot/NUP85_HUMAN NUP85_HUMAN]] Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance. As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP98/Nup98 and NUP153 to the nucleus. The Nup107-160 complex seems to be required for spindle assembly during mitosis. NUP85 is required for membrane clustering of CCL2-activated CCR2. Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade.<ref>PMID:12718872</ref> <ref>PMID:15995708</ref> <ref>PMID:16807356</ref> [[http://www.uniprot.org/uniprot/NU160_HUMAN NU160_HUMAN]] Involved in poly(A)+ RNA transport.<ref>PMID:11684705</ref> [[http://www.uniprot.org/uniprot/SEH1_HUMAN SEH1_HUMAN]] Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore. As a component of the GATOR2 complex, inhibits GATOR1 complex, an inhibitor of the amino acid-sensing branch of the TORC1 pathway.<ref>PMID:15146057</ref> <ref>PMID:17363900</ref> <ref>PMID:23723238</ref> [[http://www.uniprot.org/uniprot/NU133_HUMAN NU133_HUMAN]] Involved in poly(A)+ RNA transport.<ref>PMID:11684705</ref> [[http://www.uniprot.org/uniprot/NUP43_HUMAN NUP43_HUMAN]] Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.<ref>PMID:17363900</ref> [[http://www.uniprot.org/uniprot/NU155_HUMAN NU155_HUMAN]] Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport.[UniProtKB:Q99P88] [[http://www.uniprot.org/uniprot/NU107_HUMAN NU107_HUMAN]] Essential component of nuclear pore complex. Required for the assembly of peripheral proteins into the nuclear pore complex.<ref>PMID:12552102</ref>

== Publication Abstract from PubMed ==

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+{{Large structure}}
 ==Human nuclear pore complex==
 <StructureSection load='5a9q' size='340' side='right' caption='[[5a9q]], [[Resolution|resolution]] 23.00&Aring;' scene=''>
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 [[http://www.uniprot.org/uniprot/NUP98_HUMAN NUP98_HUMAN]] 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.  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.  Note=A chromosomal aberration involving NUP98 is found in a form of therapy-related myelodysplastic syndrome. Translocation t(11;20)(p15;q11) with TOP1.  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.  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. [[http://www.uniprot.org/uniprot/NU155_HUMAN NU155_HUMAN]] Familial atrial fibrillation. The disease is caused by mutations affecting the gene represented in this entry.
 == Function ==
-[[http://www.uniprot.org/uniprot/NUP98_HUMAN NUP98_HUMAN]] Nup98 and Nup96 play a role in the bidirectional transport across the nucleoporin complex (NPC). The FG repeat domains in Nup98 have a direct role in the transport. [[http://www.uniprot.org/uniprot/NUP37_HUMAN NUP37_HUMAN]] Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.<ref>PMID:17363900</ref>  [[http://www.uniprot.org/uniprot/SEC13_HUMAN SEC13_HUMAN]] Functions as a component of the nuclear pore complex (NPC) and the COPII coat. At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles.<ref>PMID:8972206</ref>  [[http://www.uniprot.org/uniprot/NUP85_HUMAN NUP85_HUMAN]] Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance. As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP98/Nup98 and NUP153 to the nucleus. The Nup107-160 complex seems to be required for spindle assembly during mitosis. NUP85 is required for membrane clustering of CCL2-activated CCR2. Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade.<ref>PMID:12718872</ref> <ref>PMID:15995708</ref> <ref>PMID:16807356</ref>  [[http://www.uniprot.org/uniprot/NU160_HUMAN NU160_HUMAN]] Involved in poly(A)+ RNA transport.<ref>PMID:11684705</ref>  [[http://www.uniprot.org/uniprot/SEH1_HUMAN SEH1_HUMAN]] Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore. As a component of the GATOR2 complex, inhibits GATOR1 complex, an inhibitor of the amino acid-sensing branch of the TORC1 pathway.<ref>PMID:15146057</ref> <ref>PMID:17363900</ref> <ref>PMID:23723238</ref>  [[http://www.uniprot.org/uniprot/NUP43_HUMAN NUP43_HUMAN]] Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.<ref>PMID:17363900</ref>  [[http://www.uniprot.org/uniprot/NU133_HUMAN NU133_HUMAN]] Involved in poly(A)+ RNA transport.<ref>PMID:11684705</ref>  [[http://www.uniprot.org/uniprot/NU155_HUMAN NU155_HUMAN]] Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport.[UniProtKB:Q99P88] [[http://www.uniprot.org/uniprot/NU107_HUMAN NU107_HUMAN]] Essential component of nuclear pore complex. Required for the assembly of peripheral proteins into the nuclear pore complex.<ref>PMID:12552102</ref>
+[[http://www.uniprot.org/uniprot/NUP98_HUMAN NUP98_HUMAN]] Nup98 and Nup96 play a role in the bidirectional transport across the nucleoporin complex (NPC). The FG repeat domains in Nup98 have a direct role in the transport. [[http://www.uniprot.org/uniprot/NUP37_HUMAN NUP37_HUMAN]] Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.<ref>PMID:17363900</ref>  [[http://www.uniprot.org/uniprot/SEC13_HUMAN SEC13_HUMAN]] Functions as a component of the nuclear pore complex (NPC) and the COPII coat. At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles.<ref>PMID:8972206</ref>  [[http://www.uniprot.org/uniprot/NUP85_HUMAN NUP85_HUMAN]] Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance. As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP98/Nup98 and NUP153 to the nucleus. The Nup107-160 complex seems to be required for spindle assembly during mitosis. NUP85 is required for membrane clustering of CCL2-activated CCR2. Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade.<ref>PMID:12718872</ref> <ref>PMID:15995708</ref> <ref>PMID:16807356</ref>  [[http://www.uniprot.org/uniprot/NU160_HUMAN NU160_HUMAN]] Involved in poly(A)+ RNA transport.<ref>PMID:11684705</ref>  [[http://www.uniprot.org/uniprot/SEH1_HUMAN SEH1_HUMAN]] Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore. As a component of the GATOR2 complex, inhibits GATOR1 complex, an inhibitor of the amino acid-sensing branch of the TORC1 pathway.<ref>PMID:15146057</ref> <ref>PMID:17363900</ref> <ref>PMID:23723238</ref>  [[http://www.uniprot.org/uniprot/NU133_HUMAN NU133_HUMAN]] Involved in poly(A)+ RNA transport.<ref>PMID:11684705</ref>  [[http://www.uniprot.org/uniprot/NUP43_HUMAN NUP43_HUMAN]] Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.<ref>PMID:17363900</ref>  [[http://www.uniprot.org/uniprot/NU155_HUMAN NU155_HUMAN]] Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport.[UniProtKB:Q99P88] [[http://www.uniprot.org/uniprot/NU107_HUMAN NU107_HUMAN]] Essential component of nuclear pore complex. Required for the assembly of peripheral proteins into the nuclear pore complex.<ref>PMID:12552102</ref>
 <div style="background-color:#fffaf0;">
 == Publication Abstract from PubMed ==