View source for 9ykb


==The von Willebrand factor A domain of human capillary morphogenesis gene II, fused to the 1TEL crystallization chaperone, Ala-Val linker variant, expressed with SUMO tag.==
<StructureSection load='9ykb' size='340' side='right'caption='[[9ykb]], [[Resolution|resolution]] 2.50&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9ykb]] is a 3 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=9YKB OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9YKB 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]] 2.5&#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=MG:MAGNESIUM+ION'>MG</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=9ykb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9ykb OCA], [https://pdbe.org/9ykb PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9ykb RCSB], [https://www.ebi.ac.uk/pdbsum/9ykb PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9ykb ProSAT]</span></td></tr>
</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.[https://www.uniprot.org/uniprot/ANTR2_HUMAN ANTR2_HUMAN] Defects in ANTXR2 are the cause of infantile systemic hyalinosis (ISH) [MIM:[https://omim.org/entry/236490 236490]. This autosomal recessive syndrome is similar to JHF, but has an earlier onset and a more severe course. Symptoms appear at birth or within the first months of life, with painful, swollen joint contractures, osteopenia, osteoporosis and livid red hyperpigmentation over bony prominences. Patients develop multiple subcutaneous skin tumors and gingival hypertrophy. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to death within the first 2 years of life. Surviving children may suffer from severely reduced mobility due to joint contractures.<ref>PMID:12973667</ref> <ref>PMID:14508707</ref>   Defects in ANTXR2 are the cause of juvenile hyaline fibromatosis (JHF) [MIM:[https://omim.org/entry/228600 228600]. JHF is an autosomal recessive syndrome that is similar to ISH but takes a milder course. It is characterized by hyaline deposition in the dermis, multiple subcutaneous skin tumors and gingival hypertrophy, followed by progressive joint contractions, osteopenia and osteoporosis that may lead to a severe limitation of mobility.<ref>PMID:12973667</ref> <ref>PMID:14508707</ref> 
== Function ==
[https://www.uniprot.org/uniprot/ETV6_HUMAN ETV6_HUMAN] Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'.[https://www.uniprot.org/uniprot/ANTR2_HUMAN ANTR2_HUMAN] Necessary for cellular interactions with laminin and the extracellular matrix.<ref>PMID:11683410</ref> <ref>PMID:12973667</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Callahan M]]
[[Category: Doukov T]]
[[Category: Gajjar P]]
[[Category: Keliiliki A]]
[[Category: Lebedev A]]
[[Category: Litchfield C]]
[[Category: Moody JD]]
[[Category: Pedroza Romo MJ]]
[[Category: Redd N]]
[[Category: Samarawickrama P]]