4im6

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'''Unreleased structure'''
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{{STRUCTURE_4im6| PDB=4im6 | SCENE= }}
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===LRR domain from human NLRP1===
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The entry 4im6 is ON HOLD until Jan 02 2015
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==Disease==
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[[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>
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Authors: Hahne, G., Reubold, T.F., Eschenburg, S.
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==Function==
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[[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>
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Description: LRR domain from human NLRP1
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==About this Structure==
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[[4im6]] is a 1 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4IM6 OCA].
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==Reference==
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<references group="xtra"/><references/>
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[[Category: Eschenburg, S.]]
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[[Category: Hahne, G.]]
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[[Category: Reubold, T F.]]
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[[Category: Ligand recognition]]
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[[Category: Lrr domain]]
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[[Category: Muramyl dipeptide]]
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[[Category: Structural protein]]

Revision as of 10:37, 8 January 2014

Template:STRUCTURE 4im6

Contents

LRR domain from human NLRP1

Disease

[NALP1_HUMAN] Genetic variations in NLRP1 are associated with susceptibility to vitiligo (VTLG) [MIM: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.[1] Genetic variations in NLRP1 gene are associated with susceptibility to vitiligo-associated multiple autoimmune disease type 1 (VAMAS1) [MIM: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.[2]

Function

[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.[3] [4] [5]

About this Structure

4im6 is a 1 chain structure. Full crystallographic information is available from OCA.

Reference

  1. ↑ Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA. NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med. 2007 Mar 22;356(12):1216-25. PMID:17377159 doi:356/12/1216
  2. ↑ Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA. NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med. 2007 Mar 22;356(12):1216-25. PMID:17377159 doi:356/12/1216
  3. ↑ Martinon F, Burns K, Tschopp J. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol Cell. 2002 Aug;10(2):417-26. PMID:12191486
  4. ↑ Liu F, Lo CF, Ning X, Kajkowski EM, Jin M, Chiriac C, Gonzales C, Naureckiene S, Lock YW, Pong K, Zaleska MM, Jacobsen JS, Silverman S, Ozenberger BA. Expression of NALP1 in cerebellar granule neurons stimulates apoptosis. Cell Signal. 2004 Sep;16(9):1013-21. PMID:15212762 doi:10.1016/j.cellsig.2004.02.006
  5. ↑ Faustin B, Lartigue L, Bruey JM, Luciano F, Sergienko E, Bailly-Maitre B, Volkmann N, Hanein D, Rouiller I, Reed JC. Reconstituted NALP1 inflammasome reveals two-step mechanism of caspase-1 activation. Mol Cell. 2007 Mar 9;25(5):713-24. PMID:17349957 doi:10.1016/j.molcel.2007.01.032

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