4j37: Difference between revisions

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<StructureSection load='4j37' size='340' side='right'caption='[[4j37]], [[Resolution|resolution]] 1.75&Aring;' scene=''>
<StructureSection load='4j37' size='340' side='right'caption='[[4j37]], [[Resolution|resolution]] 1.75&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[4j37]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4J37 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4J37 FirstGlance]. <br>
<table><tr><td colspan='2'>[[4j37]] 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=4J37 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4J37 FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[4iqm|4iqm]], [[4its|4its]]</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=4j37 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4j37 OCA], [https://pdbe.org/4j37 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4j37 RCSB], [https://www.ebi.ac.uk/pdbsum/4j37 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4j37 ProSAT]</span></td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">PUS1, PP8985 ([http://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'>[http://en.wikipedia.org/wiki/tRNA_pseudouridine(38-40)_synthase tRNA pseudouridine(38-40) synthase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=5.4.99.12 5.4.99.12] </span></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4j37 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4j37 OCA], [http://pdbe.org/4j37 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4j37 RCSB], [http://www.ebi.ac.uk/pdbsum/4j37 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4j37 ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/TRUA_HUMAN TRUA_HUMAN]] Mitochondrial myopathy and sideroblastic anemia. Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:[http://omim.org/entry/600462 600462]]: A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:15108122</ref> 
[https://www.uniprot.org/uniprot/PUS1_HUMAN PUS1_HUMAN] Mitochondrial myopathy and sideroblastic anemia. The disease is caused by variants affecting the gene represented in this entry.
== Function ==
== Function ==
[[http://www.uniprot.org/uniprot/TRUA_HUMAN TRUA_HUMAN]] Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity).  
[https://www.uniprot.org/uniprot/PUS1_HUMAN PUS1_HUMAN] Pseudouridylate synthase that catalyzes pseudouridylation of tRNAs and mRNAs (PubMed:15772074, PubMed:24722331). Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA (PubMed:24722331). Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (PubMed:31477916, PubMed:35051350). Acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions (PubMed:35051350). Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing (PubMed:35051350). Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 mRNA (PubMed:24722331).<ref>PMID:15772074</ref> <ref>PMID:24722331</ref> <ref>PMID:31477916</ref> <ref>PMID:35051350</ref>
<div style="background-color:#fffaf0;">
<div style="background-color:#fffaf0;">
== Publication Abstract from PubMed ==
== Publication Abstract from PubMed ==
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==See Also==
==See Also==
*[[Guide-independent Pseudouridine synthase|Guide-independent Pseudouridine synthase]]
*[[Guide-independent Pseudouridine synthase|Guide-independent Pseudouridine synthase]]
*[[Pseudouridine synthase|Pseudouridine synthase]]
*[[Pseudouridine synthase 3D structures|Pseudouridine synthase 3D structures]]
== References ==
== References ==
<references/>
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Czudnochowski, N]]
[[Category: Czudnochowski N]]
[[Category: Finer-Moore, J S]]
[[Category: Finer-Moore JS]]
[[Category: Stroud, R M]]
[[Category: Stroud RM]]
[[Category: Beta sheet]]
[[Category: Isomerase]]
[[Category: Pre-trna]]
[[Category: Pseudouridine synthase]]
[[Category: Rna binding protein]]
[[Category: Steroid receptor rna activator]]
[[Category: Trna]]
[[Category: U2 snrna]]
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