6ebt: Difference between revisions

From Proteopedia
Jump to navigation Jump to search
← Older editNewer edit →
No edit summary
No edit summary
Line 1: Line 1:
'''Unreleased structure'''


The entry 6ebt is ON HOLD  until Paper Publication
==Crystal structure of recombinant mutant N107T of human fumarase==
 
<StructureSection load='6ebt' size='340' side='right'caption='[[6ebt]], [[Resolution|resolution]] 2.30&Aring;' scene=''>
Authors: Ajalla, M.A.A., Nonato, M.C.
== Structural highlights ==
 
<table><tr><td colspan='2'>[[6ebt]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6EBT OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6EBT FirstGlance]. <br>
Description: Crystal structure of recombinant mutant N107T of human fumarase
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</scene></td></tr>
[[Category: Unreleased Structures]]
<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Fumarate_hydratase Fumarate hydratase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.2.1.2 4.2.1.2] </span></td></tr>
[[Category: Ajalla, M.A.A]]
<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=6ebt FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6ebt OCA], [http://pdbe.org/6ebt PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6ebt RCSB], [http://www.ebi.ac.uk/pdbsum/6ebt PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6ebt ProSAT]</span></td></tr>
[[Category: Nonato, M.C]]
</table>
== Disease ==
[[http://www.uniprot.org/uniprot/FUMH_HUMAN FUMH_HUMAN]] Defects in FH are the cause of fumarase deficiency (FHD) [MIM:[http://omim.org/entry/606812 606812]]; also known as fumaricaciduria. FHD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.[:]<ref>PMID:9635293</ref>  Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:[http://omim.org/entry/150800 150800]]. A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.<ref>PMID:11865300</ref> 
== Function ==
[[http://www.uniprot.org/uniprot/FUMH_HUMAN FUMH_HUMAN]] Also acts as a tumor suppressor.
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Fumarate hydratase]]
[[Category: Large Structures]]
[[Category: Ajalla, M A.A]]
[[Category: Nonato, M C]]
[[Category: Hsfh]]
[[Category: Lyase]]

Revision as of 08:50, 21 August 2019

Crystal structure of recombinant mutant N107T of human fumaraseCrystal structure of recombinant mutant N107T of human fumarase

Structural highlights

6ebt is a 2 chain structure. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:
Activity:Fumarate hydratase, with EC number 4.2.1.2
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

[FUMH_HUMAN] Defects in FH are the cause of fumarase deficiency (FHD) [MIM:606812]; also known as fumaricaciduria. FHD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.[:][1] Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]. A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.[2]

Function

[FUMH_HUMAN] Also acts as a tumor suppressor.

References

  1. ↑ Coughlin EM, Christensen E, Kunz PL, Krishnamoorthy KS, Walker V, Dennis NR, Chalmers RA, Elpeleg ON, Whelan D, Pollitt RJ, Ramesh V, Mandell R, Shih VE. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab. 1998 Apr;63(4):254-62. PMID:9635293 doi:S1096-7192(98)92684-1
  2. ↑ Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomaki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet. 2002 Apr;30(4):406-10. Epub 2002 Feb 25. PMID:11865300 doi:10.1038/ng849

6ebt, resolution 2.30Å

Drag the structure with the mouse to rotate

Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)

OCA
Retrieved from "https://proteopedia.openfox.io/wiki/index.php?title=6ebt&oldid=3083898"