7n1o: Difference between revisions

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==The von Willebrand factor A domain of human capillary morphogenesis gene II, flexibly fused to the 1TEL crystallization chaperone==
==The von Willebrand factor A domain of human capillary morphogenesis gene II, flexibly fused to the 1TEL crystallization chaperone==
<StructureSection load='7n1o' size='340' side='right'caption='[[7n1o]]' scene=''>
<StructureSection load='7n1o' size='340' side='right'caption='[[7n1o]], [[Resolution|resolution]] 2.77&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7N1O OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7N1O FirstGlance]. <br>
<table><tr><td colspan='2'>[[7n1o]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7N1O OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7N1O FirstGlance]. <br>
</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=7n1o FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7n1o OCA], [https://pdbe.org/7n1o PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7n1o RCSB], [https://www.ebi.ac.uk/pdbsum/7n1o PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7n1o ProSAT]</span></td></tr>
</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=MG:MAGNESIUM+ION'>MG</scene></td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ANTXR2, CMG2 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</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=7n1o FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7n1o OCA], [https://pdbe.org/7n1o PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7n1o RCSB], [https://www.ebi.ac.uk/pdbsum/7n1o PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7n1o ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
[[https://www.uniprot.org/uniprot/ETV6_HUMAN ETV6_HUMAN]] Note=A chromosomal aberration involving ETV6 is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;12)(q33;p13) with PDGFRB. It is characterized by abnormal clonal myeloid proliferation and by progression to acute myelogenous leukemia (AML).<ref>PMID:12203785</ref>  Note=Chromosomal aberrations involving ETV6 are found in a form of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with MN1; translocation t(4;12)(q12;p13) with CHIC2.<ref>PMID:7761424</ref> <ref>PMID:7780150</ref> <ref>PMID:15806161</ref>  Note=Chromosomal aberrations involving ETV6 are found in childhood acute lymphoblastic leukemia (ALL). Translocations t(12;21)(p12;q22) and t(12;21)(p13;q22) with RUNX1/AML1.  Note=A chromosomal aberration involving ETV6 is found in a form of pre-B acute myeloid leukemia. Translocation t(9;12)(p24;p13) with JAK2.  Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6.  Note=A chromosomal aberration involving ETV6 is found in acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6.  Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2.  Defects in ETV6 are a cause of myeloproliferative disorder chronic with eosinophilia (MPE) [MIM:[https://omim.org/entry/131440 131440]]. A hematologic disorder characterized by malignant eosinophils proliferation. Note=A chromosomal aberration involving ETV6 is found in many instances of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein.  Defects in ETV6 are a cause of acute myelogenous leukemia (AML) [MIM:[https://omim.org/entry/601626 601626]]. AML is a malignant disease in which hematopoietic precursors are arrested in an early stage of development.<ref>PMID:7761424</ref> <ref>PMID:7780150</ref> <ref>PMID:15806161</ref>  Note=A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5.
== Function ==
[[https://www.uniprot.org/uniprot/ETV6_HUMAN ETV6_HUMAN]] Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'.
== References ==
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Bezzant BD]]
[[Category: Bezzant, B D]]
[[Category: Duokov T]]
[[Category: Doukov, T]]
[[Category: Mathis MH]]
[[Category: Mathis, M H]]
[[Category: Moody JD]]
[[Category: Moody, J D]]
[[Category: Ramirez DT]]
[[Category: Nawarathnage, S D.Sarath]]
[[Category: Sarath Nawarathnage SD]]
[[Category: Ramirez, D T]]
[[Category: Alpha-beta]]
[[Category: Collagen binding]]
[[Category: Mida]]
[[Category: Protein binding]]
[[Category: Von willebrand factor type a domain]]
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