View source for 9pmd


==Human OCTN2 in an inward-facing conformation==
<StructureSection load='9pmd' size='340' side='right'caption='[[9pmd]], [[Resolution|resolution]] 2.99&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9pmd]] is a 1 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=9PMD OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9PMD 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]] 2.99&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=NA:SODIUM+ION'>NA</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=9pmd FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9pmd OCA], [https://pdbe.org/9pmd PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9pmd RCSB], [https://www.ebi.ac.uk/pdbsum/9pmd PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9pmd ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/S22A5_HUMAN S22A5_HUMAN] Systemic primary carnitine deficiency. The disease is caused by variants affecting the gene represented in this entry.  Expression in colon is increased in Crohn's disease and human ulcerative colitis (at protein level).<ref>PMID:20722056</ref> 
== Function ==
[https://www.uniprot.org/uniprot/S22A5_HUMAN S22A5_HUMAN] Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine (PubMed:10454528, PubMed:10525100, PubMed:10966938, PubMed:17509700, PubMed:20722056, PubMed:33124720). Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 11.3 (PubMed:10454528, PubMed:10525100, PubMed:10966938). In intestinal epithelia, transports the quorum-sensing pentapeptide CSF (competence and sporulation factor) from B.subtilis which induces cytoprotective heat shock proteins contributing to intestinal homeostasis (PubMed:18005709). May also contribute to regulate the transport of organic compounds in testis across the blood-testis-barrier (Probable).<ref>PMID:10454528</ref> <ref>PMID:10525100</ref> <ref>PMID:10966938</ref> <ref>PMID:17509700</ref> <ref>PMID:18005709</ref> <ref>PMID:20722056</ref> <ref>PMID:35307651</ref>   Retained in the ER, unable to perform carnitine uptake.<ref>PMID:17509700</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Davies JS]]
[[Category: Stewart AG]]
[[Category: Zeng YZ]]