3kat
From Proteopedia
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{{STRUCTURE_3kat| PDB=3kat | SCENE= }} | {{STRUCTURE_3kat| PDB=3kat | SCENE= }} | ||
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===Crystal Structure of the CARD domain of the human NLRP1 protein, Northeast Structural Genomics Consortium Target HR3486E=== | ===Crystal Structure of the CARD domain of the human NLRP1 protein, Northeast Structural Genomics Consortium Target HR3486E=== | ||
| + | ==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> | ||
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| + | ==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> | ||
==About this Structure== | ==About this Structure== | ||
| - | + | [[3kat]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3KAT OCA]. | |
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Abashidze, M.]] | [[Category: Abashidze, M.]] | ||
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[[Category: Tong,L.]] | [[Category: Tong,L.]] | ||
[[Category: Xiao,R.]] | [[Category: Xiao,R.]] | ||
| - | [[Category: | + | [[Category: Apoptosis]] |
[[Category: Atp-binding]] | [[Category: Atp-binding]] | ||
| - | [[Category: Cytoplasm]] | ||
[[Category: Leucine-rich repeat]] | [[Category: Leucine-rich repeat]] | ||
[[Category: Nesg]] | [[Category: Nesg]] | ||
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[[Category: Nucleotide-binding]] | [[Category: Nucleotide-binding]] | ||
[[Category: Nucleus]] | [[Category: Nucleus]] | ||
| - | [[Category: Polymorphism]] | ||
[[Category: Protein structure initiative]] | [[Category: Protein structure initiative]] | ||
[[Category: Psi-2]] | [[Category: Psi-2]] | ||
[[Category: Structural genomic]] | [[Category: Structural genomic]] | ||
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| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Jan 28 14:28:47 2010'' | ||
Revision as of 18:09, 24 March 2013
Contents |
Crystal Structure of the CARD domain of the human NLRP1 protein, Northeast Structural Genomics Consortium Target HR3486E
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
3kat is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
Categories: Homo sapiens | Abashidze, M. | Acton, T B. | Ciccosanti,C. | Everett, J K. | Forouhar,F. | Hunt,J F. | Mao,M. | Montelione, G T. | NESG, Northeast Structural Genomics Consortium. | Nair, R. | Rost, B. | Seetharaman, J. | Shastry,R. | Tong,L. | Xiao,R. | Apoptosis | Atp-binding | Leucine-rich repeat | Nesg | Northeast structural genomics consortium | Nucleotide-binding | Nucleus | Protein structure initiative | Psi-2 | Structural genomic
