View source for 4nfa


==Structure of the C-terminal doamin of Knl1==
<StructureSection load='4nfa' size='340' side='right'caption='[[4nfa]], [[Resolution|resolution]] 2.50&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[4nfa]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4NFA OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4NFA FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.497&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=4nfa FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4nfa OCA], [https://pdbe.org/4nfa PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4nfa RCSB], [https://www.ebi.ac.uk/pdbsum/4nfa PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4nfa ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/KNL1_HUMAN KNL1_HUMAN] Autosomal recessive primary microcephaly. A chromosomal aberration involving KNL1 is associated with acute myeloblastic leukemia (AML). Translocation t(11;15)(q23;q14) with KMT2A. May give rise to a KMT2A-KNL1 fusion protein.<ref>PMID:12618766</ref>   The disease is caused by variants affecting the gene represented in this entry.
== Function ==
[https://www.uniprot.org/uniprot/KNL1_HUMAN KNL1_HUMAN] Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore.<ref>PMID:15502821</ref> <ref>PMID:17981135</ref> <ref>PMID:18045986</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Keller J]]
[[Category: Mattiuzzo M]]
[[Category: Mosalaganti S]]
[[Category: Musacchio A]]
[[Category: Overlack K]]
[[Category: Pasqualato S]]
[[Category: Petrovic A]]
[[Category: Raunser S]]
[[Category: Wohlgemuth S]]