View source for 9lsz


==Inward-open Structure of human B0AT1==
<StructureSection load='9lsz' size='340' side='right'caption='[[9lsz]], [[Resolution|resolution]] 3.11&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9lsz]] 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=9LSZ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9LSZ 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]] 3.11&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</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=9lsz FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9lsz OCA], [https://pdbe.org/9lsz PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9lsz RCSB], [https://www.ebi.ac.uk/pdbsum/9lsz PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9lsz ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/S6A19_HUMAN S6A19_HUMAN] Hartnup disease;Iminoglycinuria. The disease is caused by mutations affecting the gene represented in this entry.  The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria.  The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.
== Function ==
[https://www.uniprot.org/uniprot/S6A19_HUMAN S6A19_HUMAN] Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152). This uptake is sodium-dependent and chloride-independent (PubMed:19185582, PubMed:15286788). Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:19185582, PubMed:18424768).<ref>PMID:15286788</ref> <ref>PMID:18424768</ref> <ref>PMID:18484095</ref> <ref>PMID:19185582</ref> <ref>PMID:26240152</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Mus musculus]]
[[Category: Hiraizumi M]]
[[Category: Imazu T]]
[[Category: Miyaguchi I]]