3gqq: Difference between revisions

<StructureSection load='3gqq' size='340' side='right' caption='[[3gqq]], [[Resolution|resolution]] 1.94&Aring;' scene=''>

<table><tr><td colspan='2'>[[3gqq]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3GQQ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3GQQ FirstGlance]. <br>

</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=UNL:UNKNOWN+LIGAND'>UNL</scene></td></tr>

<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">RG4, UNC119 ([http://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'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3gqq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3gqq OCA], [http://pdbe.org/3gqq PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=3gqq RCSB], [http://www.ebi.ac.uk/pdbsum/3gqq PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=3gqq ProSAT], [http://www.topsan.org/Proteins/NESGC/3gqq TOPSAN]</span></td></tr>

[[http://www.uniprot.org/uniprot/U119A_HUMAN U119A_HUMAN]] Idiopathic CD4 lymphocytopenia;Cone rod dystrophy. Defects in UNC119 may be a cause of cone-rod dystrophy. A mutation was found in a 57-year-old woman with late-onset cone-rod dystrophy: from 40 year old, the patient suffered from poor night vision, defective color vision and light-sensitivity. At 57 year old, she displayed reduced visual acuity, myopa, macular atrophy and pericentral ring scotomas. The disease was caused by a heterozygous mutation causing premature termination and truncated UNC119 protein with dominant-negative effect.  

[[http://www.uniprot.org/uniprot/U119A_HUMAN U119A_HUMAN]] Myristoyl-binding protein that acts as a cargo adapter: specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons. Binds myristoylated NPHP3; however, in contrast to UNC119B, does not seem to play a major role in ciliary membrane localization of NPHP3. Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells.<ref>PMID:22085962</ref> <ref>PMID:21642972</ref>   

*[[Vascular Endothelial Growth Factor Receptor|Vascular Endothelial Growth Factor Receptor]]