View source for 9egt


==Human BEST1 in an open state==
<StructureSection load='9egt' size='340' side='right'caption='[[9egt]], [[Resolution|resolution]] 2.57&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9egt]] is a 5 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=9EGT OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9EGT FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 2.57&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</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=9egt FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9egt OCA], [https://pdbe.org/9egt PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9egt RCSB], [https://www.ebi.ac.uk/pdbsum/9egt PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9egt ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/BEST1_HUMAN BEST1_HUMAN] MRCS syndrome;Adult-onset foveomacular vitelliform dystrophy;Retinitis pigmentosa;Autosomal dominant vitreoretinochoroidopathy;Nanophthalmos;Best vitelliform macular dystrophy;Autosomal recessive bestrophinopathy. The disease is caused by variants affecting the gene represented in this entry.  The disease is caused by variants affecting the gene represented in this entry.  The disease is caused by variants affecting the gene represented in this entry.  The disease is caused by variants affecting the gene represented in this entry.
== Function ==
[https://www.uniprot.org/uniprot/BEST1_HUMAN BEST1_HUMAN] Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+) (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:26720466, PubMed:35789156). Allows the movement of chloride and hydrogencarbonate (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:26720466, PubMed:35789156). Found in a partially open conformation leading to significantly smaller chloride movement (PubMed:35789156). Upon F2R/PAR-1 activation, the sequestered calcium is released into the cytosol of astrocytes, leading to the (Ca2+)-dependent release of L-glutamate into the synaptic cleft that targets the neuronal postsynaptic GRIN2A/NMDAR receptor resulting in the synaptic plasticity regulation (By similarity). Upon activation of the norepinephrine-alpha-1 adrenergic receptor signaling pathway, transports as well D-serine than L-glutamate in a (Ca2+)-dependent manner, leading to activation of adjacent NMDAR receptors and therefore regulates the heterosynaptic long-term depression and metaplasticity during initial memory acquisition (By similarity). Releases the 4-aminobutanoate neurotransmitter in a (Ca2+)-dependent manner, and participates in its tonic release from cerebellar glial cells (By similarity).[UniProtKB:O88870]<ref>PMID:11904445</ref> <ref>PMID:12907679</ref> <ref>PMID:18179881</ref> <ref>PMID:18400985</ref> <ref>PMID:19853238</ref> <ref>PMID:21330666</ref> <ref>PMID:26200502</ref> <ref>PMID:26720466</ref> <ref>PMID:35789156</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Long SB]]
[[Category: Pant S]]