View source for 7eod


==MITF HLHLZ Delta AKE==
<StructureSection load='7eod' size='340' side='right'caption='[[7eod]], [[Resolution|resolution]] 1.90&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[7eod]] is a 4 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=7EOD OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7EOD 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]] 1.9&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><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=7eod FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7eod OCA], [https://pdbe.org/7eod PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7eod RCSB], [https://www.ebi.ac.uk/pdbsum/7eod PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7eod ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/MITF_HUMAN MITF_HUMAN] MITF-related melanoma and renal cell carcinoma predisposition syndrome;Clear cell renal carcinoma;Papillary renal cell carcinoma;Tietz syndrome;Waardenburg syndrome type 2;Ocular albinism with congenital sensorineural deafness. The disease is caused by mutations affecting the gene represented in this entry.  The disease is caused by mutations affecting the gene represented in this entry.  The disease is caused by mutations affecting the gene represented in this entry.  Disease susceptibility is associated with variations affecting the gene represented in this entry.
== Function ==
[https://www.uniprot.org/uniprot/MITF_HUMAN MITF_HUMAN] Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.<ref>PMID:10587587</ref> <ref>PMID:22647378</ref> 
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Fang P]]
[[Category: Li P]]
[[Category: Liu Z]]
[[Category: Wang J]]