8og4: Difference between revisions

Revision as of 07:26, 12 July 2023

Exostosin-like 3 UDP complex

Structural highlights

8og4 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:	X-ray diffraction, Resolution 2.1Å
Ligands:	BMA, CSO, MAN, MN, NAG, UDP
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

EXTL3_HUMAN Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome. The disease is caused by variants affecting the gene represented in this entry.

Function

EXTL3_HUMAN Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:28132690, PubMed:28148688). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation (PubMed:22727489).^[1] ^[2] ^[3]

References

↑ Lai Y, Li D, Li C, Muehleisen B, Radek KA, Park HJ, Jiang Z, Li Z, Lei H, Quan Y, Zhang T, Wu Y, Kotol P, Morizane S, Hata TR, Iwatsuki K, Tang C, Gallo RL. The antimicrobial protein REG3A regulates keratinocyte proliferation and differentiation after skin injury. Immunity. 2012 Jul 27;37(1):74-84. doi: 10.1016/j.immuni.2012.04.010. Epub 2012, Jun 21. PMID:22727489 doi:https://dx.doi.org/10.1016/j.immuni.2012.04.010
↑ Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Muller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub , 2017 Jan 26. PMID:28132690 doi:https://dx.doi.org/10.1016/j.ajhg.2017.01.013
↑ Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zuniga-Pflucker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1. PMID:28148688 doi:https://dx.doi.org/10.1084/jem.20161525

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OCA

[1] Lai Y, Li D, Li C, Muehleisen B, Radek KA, Park HJ, Jiang Z, Li Z, Lei H, Quan Y, Zhang T, Wu Y, Kotol P, Morizane S, Hata TR, Iwatsuki K, Tang C, Gallo RL. The antimicrobial protein REG3A regulates keratinocyte proliferation and differentiation after skin injury. Immunity. 2012 Jul 27;37(1):74-84. doi: 10.1016/j.immuni.2012.04.010. Epub 2012, Jun 21. PMID:22727489 doi:https://dx.doi.org/10.1016/j.immuni.2012.04.010

[2] Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Muller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub , 2017 Jan 26. PMID:28132690 doi:https://dx.doi.org/10.1016/j.ajhg.2017.01.013

[3] Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zuniga-Pflucker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1. PMID:28148688 doi:https://dx.doi.org/10.1084/jem.20161525

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[2]

[3]

@@ Line 1: / Line 1: @@
-'''Unreleased structure'''
-The entry 8og4 is ON HOLD  until Paper Publication
+==Exostosin-like 3 UDP complex==
+<StructureSection load='8og4' size='340' side='right'caption='[[8og4]], [[Resolution|resolution]] 2.10&Aring;' scene=''>
-Authors: Sammon, D., Hohenester, E.
+== Structural highlights ==
+<table><tr><td colspan='2'>[[8og4]] 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=8OG4 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8OG4 FirstGlance]. <br>
-Description: Exostosin-like 3 UDP complex
+</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.1&#8491;</td></tr>
-[[Category: Unreleased Structures]]
+<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=CSO:S-HYDROXYCYSTEINE'>CSO</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene>, <scene name='pdbligand=MN:MANGANESE+(II)+ION'>MN</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=UDP:URIDINE-5-DIPHOSPHATE'>UDP</scene></td></tr>
-[[Category: Sammon, D]]
+<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8og4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8og4 OCA], [https://pdbe.org/8og4 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8og4 RCSB], [https://www.ebi.ac.uk/pdbsum/8og4 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8og4 ProSAT]</span></td></tr>
-[[Category: Hohenester, E]]
+</table>
+== Disease ==
+[https://www.uniprot.org/uniprot/EXTL3_HUMAN EXTL3_HUMAN] Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome. The disease is caused by variants affecting the gene represented in this entry.
+== Function ==
+[https://www.uniprot.org/uniprot/EXTL3_HUMAN EXTL3_HUMAN] Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:28132690, PubMed:28148688). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation (PubMed:22727489).<ref>PMID:22727489</ref> <ref>PMID:28132690</ref> <ref>PMID:28148688</ref>
+== References ==
+<references/>
+__TOC__
+</StructureSection>
+[[Category: Homo sapiens]]
+[[Category: Large Structures]]
+[[Category: Hohenester E]]
+[[Category: Sammon D]]

8og4: Difference between revisions

Revision as of 07:26, 12 July 2023

Exostosin-like 3 UDP complex

Structural highlights

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