2qtl: Difference between revisions

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<StructureSection load='2qtl' size='340' side='right'caption='[[2qtl]], [[Resolution|resolution]] 1.90&Aring;' scene=''>
<StructureSection load='2qtl' size='340' side='right'caption='[[2qtl]], [[Resolution|resolution]] 1.90&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2qtl]] 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=2QTL OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2QTL FirstGlance]. <br>
<table><tr><td colspan='2'>[[2qtl]] is a 1 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=2QTL OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2QTL FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=FAD:FLAVIN-ADENINE+DINUCLEOTIDE'>FAD</scene></td></tr>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CSO:S-HYDROXYCYSTEINE'>CSO</scene>, <scene name='pdbligand=FAD:FLAVIN-ADENINE+DINUCLEOTIDE'>FAD</scene></td></tr>
<tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=CSO:S-HYDROXYCYSTEINE'>CSO</scene></td></tr>
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[2qtz|2qtz]]</div></td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MTRR ([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'>[https://en.wikipedia.org/wiki/[Methionine_synthase]_reductase [Methionine synthase] reductase], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=1.16.1.8 1.16.1.8] </span></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=2qtl FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2qtl OCA], [https://pdbe.org/2qtl PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2qtl RCSB], [https://www.ebi.ac.uk/pdbsum/2qtl PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2qtl ProSAT]</span></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=2qtl FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2qtl OCA], [https://pdbe.org/2qtl PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2qtl RCSB], [https://www.ebi.ac.uk/pdbsum/2qtl PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2qtl ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[https://www.uniprot.org/uniprot/MTRR_HUMAN MTRR_HUMAN]] Defects in MTRR are the cause of methylcobalamin deficiency type E (cblE) [MIM:[https://omim.org/entry/236270 236270]]; also known as vitamin B12-responsive homocystinuria or homocystinuria-megaloblastic anemia complementation type E. Patients who are defective in reductive activation of methionine synthase exhibit megaloblastic anemia, developmental delay, hypomethioninemia, and hyperhomocysteinemia, a risk factor in cardiovascular disease and neural tube defects. It is an autosomal recessive disease.  Defects in MTRR may be a cause of susceptibility to folate-sensitive neural tube defects (FS-NTD) [MIM:[https://omim.org/entry/601634 601634]]. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Genetic defects in MTRR may affect the risk of spina bifida via the maternal rather than the embryonic genotype.<ref>PMID:10444342</ref> <ref>PMID:12375236</ref> <ref>PMID:15979034</ref>
[https://www.uniprot.org/uniprot/MTRR_HUMAN MTRR_HUMAN] Defects in MTRR are the cause of methylcobalamin deficiency type E (cblE) [MIM:[https://omim.org/entry/236270 236270]; also known as vitamin B12-responsive homocystinuria or homocystinuria-megaloblastic anemia complementation type E. Patients who are defective in reductive activation of methionine synthase exhibit megaloblastic anemia, developmental delay, hypomethioninemia, and hyperhomocysteinemia, a risk factor in cardiovascular disease and neural tube defects. It is an autosomal recessive disease.  Defects in MTRR may be a cause of susceptibility to folate-sensitive neural tube defects (FS-NTD) [MIM:[https://omim.org/entry/601634 601634]. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Genetic defects in MTRR may affect the risk of spina bifida via the maternal rather than the embryonic genotype.<ref>PMID:10444342</ref> <ref>PMID:12375236</ref> <ref>PMID:15979034</ref>  
== Function ==
== Function ==
[[https://www.uniprot.org/uniprot/MTRR_HUMAN MTRR_HUMAN]] Involved in the reductive regeneration of cob(I)alamin cofactor required for the maintenance of methionine synthase in a functional state.  
[https://www.uniprot.org/uniprot/MTRR_HUMAN MTRR_HUMAN] Involved in the reductive regeneration of cob(I)alamin cofactor required for the maintenance of methionine synthase in a functional state.
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Leys, D]]
[[Category: Leys D]]
[[Category: Lou, X]]
[[Category: Lou X]]
[[Category: Scrutton, N S]]
[[Category: Scrutton NS]]
[[Category: Toogood, H S]]
[[Category: Toogood HS]]
[[Category: Wolthers, K R]]
[[Category: Wolthers KR]]
[[Category: Alpha-beta-alpha structural motif]]
[[Category: Connecting domain]]
[[Category: Fad-binding region]]
[[Category: Flattened antiparallel beta barrel]]
[[Category: Flexible hinge region]]
[[Category: Oxidoreductase]]
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