8yp1
From Proteopedia
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- | '''Unreleased structure''' | ||
- | The entry | + | ==Crystal structure of HARS WHEP domain fused with Fc== |
- | + | <StructureSection load='8yp1' size='340' side='right'caption='[[8yp1]], [[Resolution|resolution]] 2.79Å' scene=''> | |
- | + | == Structural highlights == | |
- | + | <table><tr><td colspan='2'>[[8yp1]] is a 4 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=8YP1 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8YP1 FirstGlance]. <br> | |
- | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.79Å</td></tr> | |
- | [[Category: | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8yp1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8yp1 OCA], [https://pdbe.org/8yp1 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8yp1 RCSB], [https://www.ebi.ac.uk/pdbsum/8yp1 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8yp1 ProSAT]</span></td></tr> |
+ | </table> | ||
+ | == Disease == | ||
+ | [https://www.uniprot.org/uniprot/HARS1_HUMAN HARS1_HUMAN] Autosomal dominant Charcot-Marie-Tooth disease type 2W;Usher syndrome type 3. The disease may be caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.[https://www.uniprot.org/uniprot/IGHG1_HUMAN IGHG1_HUMAN] Defects in IGHG1 are a cause of multiple myeloma (MM) [MIM:[https://omim.org/entry/254500 254500]. MM is a malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. Note=A chromosomal aberration involving IGHG1 is found in multiple myeloma. Translocation t(11;14)(q13;q32) with the IgH locus. Translocation t(11;14)(q13;q32) with CCND1; translocation t(4;14)(p16.3;q32.3) with FGFR3; translocation t(6;14)(p25;q32) with IRF4. | ||
+ | == Function == | ||
+ | [https://www.uniprot.org/uniprot/HARS1_HUMAN HARS1_HUMAN] Catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP) (PubMed:29235198). Plays a role in axon guidance (PubMed:26072516).<ref>PMID:26072516</ref> <ref>PMID:29235198</ref> [https://www.uniprot.org/uniprot/IGHG1_HUMAN IGHG1_HUMAN] | ||
+ | == References == | ||
+ | <references/> | ||
+ | __TOC__ | ||
+ | </StructureSection> | ||
+ | [[Category: Homo sapiens]] | ||
+ | [[Category: Large Structures]] | ||
+ | [[Category: Geng Y]] | ||
+ | [[Category: Zhai L]] |
Current revision
Crystal structure of HARS WHEP domain fused with Fc
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