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NALP1 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. Interacts strongly with caspase-2, weakly with caspase-9 and with APAF1 in a cytochrome c-inducible way, leading to the formation of an apoptosome. This interaction may be ATP-dependent. Part of the NALP1 inflammasome complex which is involved in activation of caspase-1 and caspase-5, leading to processing of IL1B and IL18. The complex is activated by bacterial muramyl dipeptide which triggers ATP-binding and oligomerization of NALP1. Widely expressed. Isoform 1 and isoform 2 are expressed in peripheral blood leukocytes and chronic myelogenous leukemia cell line K-562, followed by thymus, spleen and heart. Also detected in brain, lung, placenta, small intestine, colon, kidney, liver, muscle, testis and epithelial cells. Absent from hematopoietic progenitor cells but expressed upon differentiation of cells into granulocytes and, to a lesser extent, monocytes. In peripheral blood cells, highest levels are found in T-lymphocytes, granulocytes and monocytes. Expression is significantly increased in bone marrow blast cells of some acute leukemia patients but not in solid tumors. Belongs to the NLRP family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Apoptosis
Chromosomal Location of Human Ortholog: 17p13.2
Cellular Component: cytosol; intracellular; nucleoplasm; nucleus
Molecular Function: ATP binding; enzyme binding; protein binding; protein domain specific binding
Biological Process: caspase activation; defense response to bacterium; neuron apoptosis; positive regulation of interleukin-1 beta secretion; regulation of inflammatory response; response to muramyl dipeptide
Disease: Autoinflammation With Arthritis And Dyskeratosis; Corneal Intraepithelial Dyskeratosis And Ectodermal Dysplasia; Vitiligo-associated Multiple Autoimmune Disease Susceptibility 1
Reference #:  Q9C000 (UniProtKB)
Alt. Names/Synonyms: CARD7; caspase recruitment domain protein 7; Caspase recruitment domain-containing protein 7; CLR17.1; Death effector filament-forming ced-4-like apoptosis protein; DEFCAP; DEFCAP-L/S; DKFZp586O1822; KIAA0926; NAC; NACHT, leucine rich repeat and PYD (pyrin domain) containing 1; NACHT, leucine rich repeat and PYD containing 1; NACHT, LRR and PYD containing protein 1; NACHT, LRR and PYD domains-containing protein 1; NALP1; NLR family, pyrin domain containing 1; NLRP1; Nucleotide-binding domain and caspase recruitment domain; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1; PP1044; SLEV1; VAMAS1
Gene Symbols: NLRP1
Molecular weight: 165,866 Da
Basal Isoelectric point: 6.39  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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