8dkw
From Proteopedia
(Difference between revisions)
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| - | '''Unreleased structure''' | ||
| - | The entry | + | ==Cryo-EM structure of cystinosin N288K mutant in a cytosol-open state at pH5.0== |
| - | + | <StructureSection load='8dkw' size='340' side='right'caption='[[8dkw]], [[Resolution|resolution]] 3.09Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[8dkw]] is a 3 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens] and [https://en.wikipedia.org/wiki/Mus_musculus Mus musculus]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=8DKW OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8DKW 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=8dkw FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8dkw OCA], [https://pdbe.org/8dkw PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8dkw RCSB], [https://www.ebi.ac.uk/pdbsum/8dkw PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8dkw ProSAT]</span></td></tr> | |
| - | [[Category: | + | </table> |
| - | [[Category: | + | == Disease == |
| - | [[Category: Li | + | [[https://www.uniprot.org/uniprot/CTNS_HUMAN CTNS_HUMAN]] Juvenile nephropathic cystinosis;Ocular cystinosis;Infantile nephropathic cystinosis. 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/CTNS_HUMAN CTNS_HUMAN]] Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes (PubMed:11689434, PubMed:18337546, PubMed:22232659, PubMed:29467429, PubMed:33208952, PubMed:15128704). Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis (PubMed:22649030). In addition to cystine export, also acts as a positive regulator of mTORC1 signaling in kidney proximal tubular cells, via interactions with components of the v-ATPase and Ragulator complexes (By similarity). Also involved in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, independently of cystine transporter activity (By similarity).[UniProtKB:P57757]<ref>PMID:11689434</ref> <ref>PMID:15128704</ref> <ref>PMID:18337546</ref> <ref>PMID:22232659</ref> <ref>PMID:22649030</ref> <ref>PMID:29467429</ref> <ref>PMID:33208952</ref> | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Homo sapiens]] | ||
| + | [[Category: Large Structures]] | ||
| + | [[Category: Mus musculus]] | ||
| + | [[Category: Li X]] | ||
| + | [[Category: Schmiege P]] | ||
Revision as of 07:48, 21 September 2022
Cryo-EM structure of cystinosin N288K mutant in a cytosol-open state at pH5.0
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