9r8j: Difference between revisions
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==Structure of human NHE9== | |||
<StructureSection load='9r8j' size='340' side='right'caption='[[9r8j]], [[Resolution|resolution]] 2.83Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[9r8j]] is a 2 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=9R8J OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9R8J 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]] 2.83Å</td></tr> | |||
[[Category: | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=LMT:DODECYL-BETA-D-MALTOSIDE'>LMT</scene>, <scene name='pdbligand=NA:SODIUM+ION'>NA</scene>, <scene name='pdbligand=PC1:1,2-DIACYL-SN-GLYCERO-3-PHOSPHOCHOLINE'>PC1</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=9r8j FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9r8j OCA], [https://pdbe.org/9r8j PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9r8j RCSB], [https://www.ebi.ac.uk/pdbsum/9r8j PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9r8j ProSAT]</span></td></tr> | |||
</table> | |||
== Disease == | |||
[https://www.uniprot.org/uniprot/SL9A9_HUMAN SL9A9_HUMAN] A chromosomal aberration involving SLC9A9 has been found in a family with early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability. Inversion inv(3)(p14:q21). The inversion disrupts DOCK3 and SLC9A9.<ref>PMID:14569117</ref> Disease susceptibility is associated with variants affecting the gene represented in this entry. | |||
== Function == | |||
[https://www.uniprot.org/uniprot/SL9A9_HUMAN SL9A9_HUMAN] Endosomal Na(+), K(+)/H(+) antiporter. Mediates the electroneutral exchange of endosomal luminal H(+) for a cytosolic Na(+) or K(+) (Probable). By facilitating proton efflux, SLC9A9 counteracts the acidity generated by vacuolar (V)-ATPase, thereby limiting luminal acidification. Regulates organellar pH and consequently, e.g., endosome maturation and endocytic trafficking of plasma membrane receptors and neurotransporters (PubMed:15522866, PubMed:24065030, PubMed:28130443). Promotes the recycling of transferrin receptors back to the cell surface to facilitate additional iron uptake in the brain (PubMed:28130443). Regulates synaptic transmission by regulating the luminal pH of axonal endosomes (By similarity). Regulates phagosome lumenal pH, thus affecting phagosome maturation, and consequently, microbicidal activity in macrophages (By similarity). Can also be active at the cell surface of specialized cells, e.g., in the inner ear hair bundles uses the high K(+) of the endolymph to regulate intracellular pH (By similarity).[UniProtKB:Q8BZ00]<ref>PMID:15522866</ref> <ref>PMID:24065030</ref> <ref>PMID:28130443</ref> <ref>PMID:15522866</ref> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | |||
[[Category: Large Structures]] | |||
[[Category: Beck H]] | |||
[[Category: Chi G]] | |||
[[Category: Goericke F]] | |||
[[Category: Hansen JS]] | |||
[[Category: Huber KVM]] | |||
[[Category: Ingles-Prieto A]] | |||
[[Category: Pike ACW]] | |||
[[Category: Sauer DB]] | |||
[[Category: Speedman D]] | |||
[[Category: Superti-Furga G]] | |||
[[Category: Tranberg-Jensen J]] | |||
[[Category: Wolf G]] | |||
[[Category: Ye M]] | |||
