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2fya
From Proteopedia
(Difference between revisions)
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==Crystal structure of the catalytic domain of the human beta1, 4-galactosyltransferase mutant M339H complex with manganese== | ==Crystal structure of the catalytic domain of the human beta1, 4-galactosyltransferase mutant M339H complex with manganese== | ||
| - | <StructureSection load='2fya' size='340' side='right' caption='[[2fya]], [[Resolution|resolution]] 1.90Å' scene=''> | + | <StructureSection load='2fya' size='340' side='right'caption='[[2fya]], [[Resolution|resolution]] 1.90Å' scene=''> |
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2fya]] is a 1 chain structure with sequence from [ | + | <table><tr><td colspan='2'>[[2fya]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2FYA OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2FYA FirstGlance]. <br> |
| - | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=MN:MANGANESE+(II)+ION'>MN</scene>, <scene name='pdbligand=PGE:TRIETHYLENE+GLYCOL'>PGE</scene></td></tr> | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=MN:MANGANESE+(II)+ION'>MN</scene>, <scene name='pdbligand=PGE:TRIETHYLENE+GLYCOL'>PGE</scene></td></tr> |
| - | <tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2fy7|2fy7]], [[2fyb|2fyb]], [[2fyc|2fyc]], [[2fyd|2fyd]]</td></tr> | + | <tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[2fy7|2fy7]], [[2fyb|2fyb]], [[2fyc|2fyc]], [[2fyd|2fyd]]</div></td></tr> |
| - | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">B4GALT1, GGTB2 ([ | + | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">B4GALT1, GGTB2 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> |
| - | <tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[ | + | <tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[https://en.wikipedia.org/wiki/N-acetyllactosamine_synthase N-acetyllactosamine synthase], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.4.1.90 2.4.1.90] </span></td></tr> |
| - | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2fya FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2fya OCA], [https://pdbe.org/2fya PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2fya RCSB], [https://www.ebi.ac.uk/pdbsum/2fya PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2fya ProSAT]</span></td></tr> |
</table> | </table> | ||
== Disease == | == Disease == | ||
| - | [[ | + | [[https://www.uniprot.org/uniprot/B4GT1_HUMAN B4GT1_HUMAN]] Defects in B4GALT1 are the cause of congenital disorder of glycosylation type 2D (CDG2D) [MIM:[https://omim.org/entry/607091 607091]]. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. |
== Function == | == Function == | ||
| - | [[ | + | [[https://www.uniprot.org/uniprot/B4GT1_HUMAN B4GT1_HUMAN]] The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix. |
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
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==See Also== | ==See Also== | ||
| - | *[[Glycosyltransferase|Glycosyltransferase]] | + | *[[Glycosyltransferase 3D structures|Glycosyltransferase 3D structures]] |
== References == | == References == | ||
<references/> | <references/> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Human]] | [[Category: Human]] | ||
| + | [[Category: Large Structures]] | ||
[[Category: N-acetyllactosamine synthase]] | [[Category: N-acetyllactosamine synthase]] | ||
[[Category: Qasba, P K]] | [[Category: Qasba, P K]] | ||
Revision as of 15:35, 3 March 2021
Crystal structure of the catalytic domain of the human beta1, 4-galactosyltransferase mutant M339H complex with manganese
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