6djb: Difference between revisions

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'''Unreleased structure'''


The entry 6djb is ON HOLD  until Paper Publication
==Structure of human Volume Regulated Anion Channel composed of SWELL1 (LRRC8A)==
 
<StructureSection load='6djb' size='340' side='right' caption='[[6djb]], [[Resolution|resolution]] 4.40&Aring;' scene=''>
Authors: Kefauver, J.M., Saotome, K., Pallesen, J., Cottrell, C.A., Ward, A.B., Patapoutian, A.
== Structural highlights ==
 
<table><tr><td colspan='2'>[[6djb]] is a 6 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6DJB OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6DJB FirstGlance]. <br>
Description: Structure of human Volume Regulated Anion Channel composed of SWELL1 (LRRC8A)
</td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6djb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6djb OCA], [http://pdbe.org/6djb PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6djb RCSB], [http://www.ebi.ac.uk/pdbsum/6djb PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6djb ProSAT]</span></td></tr>
[[Category: Unreleased Structures]]
</table>
[[Category: Ward, A.B]]
== Disease ==
[[Category: Cottrell, C.A]]
[[http://www.uniprot.org/uniprot/LRC8A_HUMAN LRC8A_HUMAN]] Autosomal agammaglobulinemia. The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains.  
== Function ==
[[http://www.uniprot.org/uniprot/LRC8A_HUMAN LRC8A_HUMAN]] Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731, PubMed:29769723). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731). Mediates efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress (PubMed:28193731). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Required for in vivo channel activity, together with at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731). Can form functional channels by itself (in vitro) (PubMed:26824658). Involved in B-cell development: required for the pro-B cell to pre-B cell transition (PubMed:14660746). Also required for T-cell development (By similarity).[UniProtKB:Q80WG5]<ref>PMID:14660746</ref> <ref>PMID:24725410</ref> <ref>PMID:24790029</ref> <ref>PMID:26530471</ref> <ref>PMID:26824658</ref> <ref>PMID:28193731</ref> <ref>PMID:29769723</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Cottrell, C A]]
[[Category: Kefauver, J M]]
[[Category: Pallesen, J]]
[[Category: Patapoutian, A]]
[[Category: Patapoutian, A]]
[[Category: Saotome, K]]
[[Category: Saotome, K]]
[[Category: Pallesen, J]]
[[Category: Ward, A B]]
[[Category: Kefauver, J.M]]
[[Category: Anion channel]]
[[Category: Lrrc8a]]
[[Category: Membrane protein]]
[[Category: Swell1]]