7d8r
From Proteopedia
(Difference between revisions)
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==MITF HLHLZ structure== | ==MITF HLHLZ structure== | ||
| - | <StructureSection load='7d8r' size='340' side='right'caption='[[7d8r]]' scene=''> | + | <StructureSection load='7d8r' size='340' side='right'caption='[[7d8r]], [[Resolution|resolution]] 3.00Å' 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=7D8R OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7D8R FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[7d8r]] is a 4 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7D8R OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7D8R 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=7d8r FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7d8r OCA], [https://pdbe.org/7d8r PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7d8r RCSB], [https://www.ebi.ac.uk/pdbsum/7d8r PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7d8r ProSAT]</span></td></tr> | </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=7d8r FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7d8r OCA], [https://pdbe.org/7d8r PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7d8r RCSB], [https://www.ebi.ac.uk/pdbsum/7d8r PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7d8r ProSAT]</span></td></tr> | ||
</table> | </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/> | ||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
| - | [[Category: Fang P]] | + | [[Category: Fang, P]] |
| - | [[Category: Guo M]] | + | [[Category: Guo, M]] |
| - | [[Category: Wang J]] | + | [[Category: Wang, J]] |
| + | [[Category: Transcription]] | ||
| + | [[Category: Transcription factor]] | ||
Revision as of 10:49, 16 February 2022
MITF HLHLZ structure
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