4im6: Difference between revisions
From Proteopedia
Jump to navigationJump to search
No edit summary |
No edit summary |
||
| Line 1: | Line 1: | ||
==Disease== | ==LRR domain from human NLRP1== | ||
<StructureSection load='4im6' size='340' side='right' caption='[[4im6]], [[Resolution|resolution]] 1.65Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[4im6]] 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=4IM6 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4IM6 FirstGlance]. <br> | |||
</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> | |||
<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='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CARD7, DEFCAP, KIAA0926, NAC, NALP1, NLRP1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</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=4im6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4im6 OCA], [http://pdbe.org/4im6 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4im6 RCSB], [http://www.ebi.ac.uk/pdbsum/4im6 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4im6 ProSAT]</span></td></tr> | |||
</table> | |||
== Disease == | |||
[[http://www.uniprot.org/uniprot/NALP1_HUMAN NALP1_HUMAN]] Genetic variations in NLRP1 are associated with susceptibility to vitiligo (VTLG) [MIM:[http://omim.org/entry/193200 193200]]. VTLG is a pigmentary disorder of the skin characterized by circumscribed depigmented macules and patches, commonly on extensor aspects of extremities, on the face or neck and in skin folds. It is a progressive disorder in which some or all of the melanocytes in the affected skin are selectively destroyed. It is a multifactorial disorder with a complex etiology probably including autoimmune mechanisms, and is associated with an elevated risk of other autoimmune diseases.<ref>PMID:17377159</ref> Genetic variations in NLRP1 gene are associated with susceptibility to vitiligo-associated multiple autoimmune disease type 1 (VAMAS1) [MIM:[http://omim.org/entry/606579 606579]]. VAMAS1 is an autoimmune disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus.<ref>PMID:17377159</ref> | [[http://www.uniprot.org/uniprot/NALP1_HUMAN NALP1_HUMAN]] Genetic variations in NLRP1 are associated with susceptibility to vitiligo (VTLG) [MIM:[http://omim.org/entry/193200 193200]]. VTLG is a pigmentary disorder of the skin characterized by circumscribed depigmented macules and patches, commonly on extensor aspects of extremities, on the face or neck and in skin folds. It is a progressive disorder in which some or all of the melanocytes in the affected skin are selectively destroyed. It is a multifactorial disorder with a complex etiology probably including autoimmune mechanisms, and is associated with an elevated risk of other autoimmune diseases.<ref>PMID:17377159</ref> Genetic variations in NLRP1 gene are associated with susceptibility to vitiligo-associated multiple autoimmune disease type 1 (VAMAS1) [MIM:[http://omim.org/entry/606579 606579]]. VAMAS1 is an autoimmune disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus.<ref>PMID:17377159</ref> | ||
== Function == | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/NALP1_HUMAN NALP1_HUMAN]] Able to form cytoplasmic structures termed death effector filaments. Enhances APAF1 and cytochrome c-dependent activation of pro-caspase-9 and consecutive apoptosis. Stimulates apoptosis through activation of caspase-3. Involved in activation of caspase-1 and caspase-5 as part of the NALP1 inflammasome complex which leads to processing and release of IL1B and IL18. Binds ATP.<ref>PMID:12191486</ref> <ref>PMID:15212762</ref> <ref>PMID:17349957</ref> | [[http://www.uniprot.org/uniprot/NALP1_HUMAN NALP1_HUMAN]] Able to form cytoplasmic structures termed death effector filaments. Enhances APAF1 and cytochrome c-dependent activation of pro-caspase-9 and consecutive apoptosis. Stimulates apoptosis through activation of caspase-3. Involved in activation of caspase-1 and caspase-5 as part of the NALP1 inflammasome complex which leads to processing and release of IL1B and IL18. Binds ATP.<ref>PMID:12191486</ref> <ref>PMID:15212762</ref> <ref>PMID:17349957</ref> | ||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Human]] | |||
<references | [[Category: Eschenburg, S]] | ||
[[Category: Eschenburg, S | [[Category: Hahne, G]] | ||
[[Category: Hahne, G | [[Category: Reubold, T F]] | ||
[[Category: Reubold, T F | |||
[[Category: Ligand recognition]] | [[Category: Ligand recognition]] | ||
[[Category: Lrr domain]] | [[Category: Lrr domain]] | ||
[[Category: Muramyl dipeptide]] | [[Category: Muramyl dipeptide]] | ||
[[Category: Structural protein]] | [[Category: Structural protein]] | ||
