4on3: Difference between revisions

Revision as of 10:46, 24 September 2014

Crystal structure of human sorting nexin 10 (SNX10)

Structural highlights

4on3 is a 2 chain structure. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:	1PE, NA, NO3
Resources:	FirstGlance, OCA, RCSB, PDBsum

Disease

[SNX10_HUMAN] Autosomal recessive malignant osteopetrosis. The disease is caused by mutations affecting the gene represented in this entry.^[1] ^[2] ^[3]

Function

[SNX10_HUMAN] Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption.^[4] ^[5] ^[6]

References

↑ Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S, Israel S, Weintraub M, Taraboulos A, Bar-Shavit Z, Elpeleg O. An SNX10 mutation causes malignant osteopetrosis of infancy. J Med Genet. 2012 Apr;49(4):221-6. doi: 10.1136/jmedgenet-2011-100520. PMID:22499339 doi:https://dx.doi.org/10.1136/jmedgenet-2011-100520
↑ Megarbane A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. Eur J Med Genet. 2013 Jan;56(1):32-5. doi: 10.1016/j.ejmg.2012.10.010. Epub 2012 , Oct 31. PMID:23123320 doi:https://dx.doi.org/10.1016/j.ejmg.2012.10.010
↑ Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D, Vanakker OM, De Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kuhl JS, Caldana E, Lo Iacono N, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C. SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. J Bone Miner Res. 2013 May;28(5):1041-9. doi: 10.1002/jbmr.1849. PMID:23280965 doi:https://dx.doi.org/10.1002/jbmr.1849
↑ Qin B, He M, Chen X, Pei D. Sorting nexin 10 induces giant vacuoles in mammalian cells. J Biol Chem. 2006 Dec 1;281(48):36891-6. Epub 2006 Sep 29. PMID:17012226 doi:https://dx.doi.org/10.1074/jbc.M608884200
↑ Chen Y, Wu B, Xu L, Li H, Xia J, Yin W, Li Z, Shi D, Li S, Lin S, Shu X, Pei D. A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo. Cell Res. 2012 Feb;22(2):333-45. doi: 10.1038/cr.2011.134. Epub 2011 Aug 16. PMID:21844891 doi:https://dx.doi.org/10.1038/cr.2011.134
↑ Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S, Israel S, Weintraub M, Taraboulos A, Bar-Shavit Z, Elpeleg O. An SNX10 mutation causes malignant osteopetrosis of infancy. J Med Genet. 2012 Apr;49(4):221-6. doi: 10.1136/jmedgenet-2011-100520. PMID:22499339 doi:https://dx.doi.org/10.1136/jmedgenet-2011-100520

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OCA

[1] Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S, Israel S, Weintraub M, Taraboulos A, Bar-Shavit Z, Elpeleg O. An SNX10 mutation causes malignant osteopetrosis of infancy. J Med Genet. 2012 Apr;49(4):221-6. doi: 10.1136/jmedgenet-2011-100520. PMID:22499339 doi:https://dx.doi.org/10.1136/jmedgenet-2011-100520

[2] Megarbane A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. Eur J Med Genet. 2013 Jan;56(1):32-5. doi: 10.1016/j.ejmg.2012.10.010. Epub 2012 , Oct 31. PMID:23123320 doi:https://dx.doi.org/10.1016/j.ejmg.2012.10.010

[3] Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D, Vanakker OM, De Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kuhl JS, Caldana E, Lo Iacono N, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C. SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. J Bone Miner Res. 2013 May;28(5):1041-9. doi: 10.1002/jbmr.1849. PMID:23280965 doi:https://dx.doi.org/10.1002/jbmr.1849

[4] Qin B, He M, Chen X, Pei D. Sorting nexin 10 induces giant vacuoles in mammalian cells. J Biol Chem. 2006 Dec 1;281(48):36891-6. Epub 2006 Sep 29. PMID:17012226 doi:https://dx.doi.org/10.1074/jbc.M608884200

[5] Chen Y, Wu B, Xu L, Li H, Xia J, Yin W, Li Z, Shi D, Li S, Lin S, Shu X, Pei D. A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo. Cell Res. 2012 Feb;22(2):333-45. doi: 10.1038/cr.2011.134. Epub 2011 Aug 16. PMID:21844891 doi:https://dx.doi.org/10.1038/cr.2011.134

[6] Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S, Israel S, Weintraub M, Taraboulos A, Bar-Shavit Z, Elpeleg O. An SNX10 mutation causes malignant osteopetrosis of infancy. J Med Genet. 2012 Apr;49(4):221-6. doi: 10.1136/jmedgenet-2011-100520. PMID:22499339 doi:https://dx.doi.org/10.1136/jmedgenet-2011-100520

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@@ Line 1: / Line 1: @@
-'''Unreleased structure'''
+==Crystal structure of human sorting nexin 10 (SNX10)==
+<StructureSection load='4on3' size='340' side='right' caption='[[4on3]], [[Resolution|resolution]] 2.60&Aring;' scene=''>
-The entry 4on3 is ON HOLD
+== Structural highlights ==
+<table><tr><td colspan='2'>[[4on3]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4ON3 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4ON3 FirstGlance]. <br>
-Authors: Xu, T., Xu, J., Wang, Q., Liu, J.
+</td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=1PE:PENTAETHYLENE+GLYCOL'>1PE</scene>, <scene name='pdbligand=NA:SODIUM+ION'>NA</scene>, <scene name='pdbligand=NO3:NITRATE+ION'>NO3</scene><br>
+<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4on3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4on3 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4on3 RCSB], [http://www.ebi.ac.uk/pdbsum/4on3 PDBsum]</span></td></tr>
-Description: Crystal structure of human sorting nexin 10 (SNX10)
+<table>
+== Disease ==
+[[http://www.uniprot.org/uniprot/SNX10_HUMAN SNX10_HUMAN]] Autosomal recessive malignant osteopetrosis. The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:22499339</ref> <ref>PMID:23123320</ref> <ref>PMID:23280965</ref>
+== Function ==
+[[http://www.uniprot.org/uniprot/SNX10_HUMAN SNX10_HUMAN]] Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption.<ref>PMID:17012226</ref> <ref>PMID:21844891</ref> <ref>PMID:22499339</ref>
+== References ==
+<references/>
+__TOC__
+</StructureSection>
+[[Category: Liu, J.]]
+[[Category: Wang, Q.]]
+[[Category: Xu, J.]]
+[[Category: Xu, T.]]
+[[Category: Phox-homology domain]]
+[[Category: Protein transport]]
+[[Category: Sorting nexin]]

4on3: Difference between revisions

Revision as of 10:46, 24 September 2014

Crystal structure of human sorting nexin 10 (SNX10)

Structural highlights

Disease

Function

References

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