8jl3: Difference between revisions

Revision as of 08:02, 22 May 2024

membrane proteins

Structural highlights

8jl3 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:	Electron Microscopy, Resolution 2.59Å
Ligands:	ACO, C14, CLR, D10, D12, NAG, OCT, R16
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

HGNAT_HUMAN Sanfilippo syndrome type C;Retinitis pigmentosa. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.

Function

HGNAT_HUMAN Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.^[1] ^[2] ^[3] ^[4]

References

↑ Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet. 2006 Oct;79(4):738-44. PMID:16960811 doi:10.1086/508068
↑ Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet. 2006 Nov;79(5):807-19. PMID:17033958 doi:10.1086/508294
↑ Feldhammer M, Durand S, Pshezhetsky AV. Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. PLoS One. 2009 Oct 13;4(10):e7434. PMID:19823584 doi:10.1371/journal.pone.0007434
↑ Durand S, Feldhammer M, Bonneil E, Thibault P, Pshezhetsky AV. Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC. J Biol Chem. 2010 Oct 8;285(41):31233-42. PMID:20650889 doi:10.1074/jbc.M110.141150

Proteopedia Page Contributors and Editors (what is this?)

OCA

[1] Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet. 2006 Oct;79(4):738-44. PMID:16960811 doi:10.1086/508068

[2] Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet. 2006 Nov;79(5):807-19. PMID:17033958 doi:10.1086/508294

[3] Feldhammer M, Durand S, Pshezhetsky AV. Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. PLoS One. 2009 Oct 13;4(10):e7434. PMID:19823584 doi:10.1371/journal.pone.0007434

[4] Durand S, Feldhammer M, Bonneil E, Thibault P, Pshezhetsky AV. Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC. J Biol Chem. 2010 Oct 8;285(41):31233-42. PMID:20650889 doi:10.1074/jbc.M110.141150

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@@ Line 1: / Line 1: @@
-'''Unreleased structure'''
-The entry 8jl3 is ON HOLD  until 2025-12-02
+==membrane proteins==
+<StructureSection load='8jl3' size='340' side='right'caption='[[8jl3]], [[Resolution|resolution]] 2.59&Aring;' scene=''>
-Authors:
+== Structural highlights ==
+<table><tr><td colspan='2'>[[8jl3]] 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=8JL3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8JL3 FirstGlance]. <br>
-Description:
+</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 2.59&#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=ACO:ACETYL+COENZYME+*A'>ACO</scene>, <scene name='pdbligand=C14:TETRADECANE'>C14</scene>, <scene name='pdbligand=CLR:CHOLESTEROL'>CLR</scene>, <scene name='pdbligand=D10:DECANE'>D10</scene>, <scene name='pdbligand=D12:DODECANE'>D12</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=OCT:N-OCTANE'>OCT</scene>, <scene name='pdbligand=R16:HEXADECANE'>R16</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=8jl3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8jl3 OCA], [https://pdbe.org/8jl3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8jl3 RCSB], [https://www.ebi.ac.uk/pdbsum/8jl3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8jl3 ProSAT]</span></td></tr>
+</table>
+== Disease ==
+[https://www.uniprot.org/uniprot/HGNAT_HUMAN HGNAT_HUMAN] Sanfilippo syndrome type C;Retinitis pigmentosa. The disease is caused by variants affecting the gene represented in this entry.  The disease is caused by variants affecting the gene represented in this entry.
+== Function ==
+[https://www.uniprot.org/uniprot/HGNAT_HUMAN HGNAT_HUMAN] Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.<ref>PMID:16960811</ref> <ref>PMID:17033958</ref> <ref>PMID:19823584</ref> <ref>PMID:20650889</ref>
+== References ==
+<references/>
+__TOC__
+</StructureSection>
+[[Category: Homo sapiens]]
+[[Category: Large Structures]]
+[[Category: Ge JP]]
+[[Category: Xu RS]]
+[[Category: Yu J]]

8jl3: Difference between revisions

Revision as of 08:02, 22 May 2024

membrane proteins

Structural highlights

Disease

Function

References

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