1pn5

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|ACTIVITY=
|ACTIVITY=
|GENE= NALP1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])
|GENE= NALP1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])
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|DOMAIN=
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|RELATEDENTRY=
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|RESOURCES=<span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1pn5 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1pn5 OCA], [http://www.ebi.ac.uk/pdbsum/1pn5 PDBsum], [http://www.rcsb.org/pdb/explore.do?structureId=1pn5 RCSB]</span>
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}}
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==Disease==
==Disease==
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Known diseases associated with this structure: Cramps, familial, potassium-aggravated OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967 603967]], Hyperkalemic periodic paralysis OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967 603967]], Hypokalemic periodic paralysis OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967 603967]], Myasthenic syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967 603967]], Myotonia congenita, atypical, acetazolamide-responsive OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967 603967]], Paramyotonia congenita OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967 603967]], Vitiligo-associated multiple autoimmune disease susceptibility 1 OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606636 606636]]
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Known disease associated with this structure: Vitiligo-associated multiple autoimmune disease susceptibility 1 OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606636 606636]]
==About this Structure==
==About this Structure==
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[[Category: 5 alpha-helix bundle]]
[[Category: 5 alpha-helix bundle]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Mar 20 13:26:25 2008''
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sun Mar 30 23:01:58 2008''

Revision as of 20:02, 30 March 2008


PDB ID 1pn5

Drag the structure with the mouse to rotate
Gene: NALP1 (Homo sapiens)
Resources: FirstGlance, OCA, PDBsum, RCSB
Coordinates: save as pdb, mmCIF, xml



NMR structure of the NALP1 Pyrin domain (PYD)


Contents

Overview

Signaling in apoptosis and inflammation is often mediated by proteins of the death domain superfamily in the Fas/FADD/Caspase-8 or the Apaf-1/Caspase-9 pathways. This superfamily currently comprises the death domain (DD), death effector domain (DED), caspase recruitment domain (CARD), and pyrin domain (PYD) subfamilies. The PYD subfamily is most abundant, but three-dimensional structures are only available for the subfamilies DD, DED, and CARD, which have an antiparallel arrangement of six alpha helices as common fold. This paper presents the NMR structure of PYD of NALP1, a protein that is involved in the innate immune response and is a component of the inflammasome. The structure of NALP1 PYD differs from all other known death domain superfamily structures in that the third alpha helix is replaced by a flexibly disordered loop. This unique feature appears to relate to the molecular basis of familial Mediterranean fever (FMF), a genetic disease caused by single-point mutations.

Disease

Known disease associated with this structure: Vitiligo-associated multiple autoimmune disease susceptibility 1 OMIM:[606636]

About this Structure

1PN5 is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

NMR structure of the apoptosis- and inflammation-related NALP1 pyrin domain., Hiller S, Kohl A, Fiorito F, Herrmann T, Wider G, Tschopp J, Grutter MG, Wuthrich K, Structure. 2003 Oct;11(10):1199-205. PMID:14527388

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