Uniprot ID: Q9C000	Protein name : "NACHT, LRR and PYD domains-containing protein 1 "	Gene : NLRP1 CARD7 DEFCAP KIAA0926 NAC NALP1
Protein Families : NLRP family	Squence Length : 1473

Sequence	>Q9C000 1474 MAGGAWGRLACYLEFLKKEELKEFQLLLANKAHSRSSSGETPAQPEKTSGMEVASYLVAQYGEQRAWDLALHTWEQMGLRSLCAQAQEGAGHSPSFPYSPSEPHLGSPSQPTSTAVLMPWIHELPAGCTQGSERRVLRQLPDTSGRRWREISASLLYQALPSSPDHESPSQESPNAPTSTAVLGSWGSPPQPSLAPREQEAPGTQWPLDETSGIYYTEIREREREKSEKGRPPWAAVVGTPPQAHTSLQPHHHPWEPSVRESLCSTWPWKNEDFNQKFTQLLLLQRPHPRSQDPLVKRSWPDYVEENRGHLIEIRDLFGPGLDTQEPRIVILQGAAGIGKSTLARQVKEAWGRGQLYGDRFQHVFYFSCRELAQSKVVSLAELIGKDGTATPAPIRQILSRPERLLFILDGVDEPGWVLQEPSSELCLHWSQPQPADALLGSLLGKTILPEASFLITARTTALQNLIPSLEQARWVEVLGFSESSRKEYFYRYFTDERQAIRAFRLVKSNKELWALCLVPWVSWLACTCLMQQMKRKEKLTLTSKTTTTLCLHYLAQALQAQPLGPQLRDLCSLAAEGIWQKKTLFSPDDLRKHGLDGAIISTFLKMGILQEHPIPLSYSFIHLCFQEFFAAMSYVLEDEKGRGKHSNCIIDLEKTLEAYGIHGLFGASTTRFLLGLLSDEGEREMENIFHCRLSQGRNLMQWVPSLQLLLQPHSLESLHCLYETRNKTFLTQVMAHFEEMGMCVETDMELLVCTFCIKFSRHVKKLQLIEGRQHRSTWSPTMVVLFRWVPVTDAYWQILFSVLKVTRNLKELDLSGNSLSHSAVKSLCKTLRRPRCLLETLRLAGCGLTAEDCKDLAFGLRANQTLTELDLSFNVLTDAGAKHLCQRLRQPSCKLQRLQLVSCGLTSDCCQDLASVLSASPSLKELDLQQNNLDDVGVRLLCEGLRHPACKLIRLGLDQTTLSDEMRQELRALEQEKPQLLIFSRRKPSVMTPTEGLDTGEMSNSTSSLKRQRLGSERAASHVAQANLKLLDVSKIFPIAEIAEESSPEVVPVELLCVPSPASQGDLHTKPLGTDDDFWGPTGPVATEVVDKEKNLYRVHFPVAGSYRWPNTGLCFVMREAVTVEIEFCVWDQFLGEINPQHSWMVAGPLLDIKAEPGAVEAVHLPHFVALQGGHVDTSLFQMAHFKEEGMLLEKPARVELHHIVLENPSFSPLGVLLKMIHNALRFIPVTSVVLLYHRVHPEEVTFHLYLIPSDCSIRKAIDDLEMKFQFVRIHKPPPLTPLYMGCRYTVSGSGSGMLEILPKELELCYRSPGEDQLFSEFYVGHLGSGIRLQVKDKKDETLVWEALVKPGDLMPATTLIPPARIAVPSPLDAPQLLHFVDQYREQLIARVTSVEVVLDKLHGQVLSQEQYERVLAENTRPSQMRKLFSLSQSWDRKCKDGLYQALKETHPHLIMELWEKGSKKGLLPLSS
Repeat regions	REPEAT 809 830 LRR 1 REPEAT 838 858 LRR 2 REPEAT 866 887 LRR 3 REPEAT 895 915 LRR 4 REPEAT 923 944 LRR 5 REPEAT 950 973 LRR 6
Sequence region of repeats	809- 830 KELDLSGNSLSHSAVKSLCKTL 838- 858 ETLRLAGCGLTAEDCKDLAFG 866- 887 TELDLSFNVLTDAGAKHLCQRL 895- 915 QRLQLVSCGLTSDCCQDLASV 923- 944 KELDLQQNNLDDVGVRLLCEGL 950- 973 KLIRLGLDQTTLSDEMRQELRALE
Domains	DOMAIN 1 92 Pyrin. DOMAIN 328 637 NACHT. DOMAIN 1079 1364 FIIND. DOMAIN 1374 1463 CARD
Function	"As the sensor component of the NLRP1 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP1, CASP1, and possibly PYCARD. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. Activation of NLRP1 inflammasome is also required for HMGB1 secretion. The active cytokines and HMGB1 stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death (PubMed:22665479, PubMed:17418785). May be activated by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, in a NOD2-dependent manner (PubMed:18511561). Contrary to its mouse ortholog, not activated by Bacillus anthracis lethal toxin (PubMed:19651869). It is unclear whether isoform 2 is involved in inflammasome formation. It is not cleaved within the FIIND domain, does not assemble into specks, nor promote IL1B release (PubMed:22665479). However, in an vitro cell-free system, it has been shown to be activated by MDP (PubMed:17349957). Binds ATP (PubMed:11113115, PubMed:15212762)"
Nucleotide Binding	NP_BIND 334 341 ATP
Mutation	"339 340 GK->EA: Loss of ATP binding 340 340 K->L,S: No effect 1168 1168 H->A: Complete loss of autocatalytic processing and of IL1B release 1186 1186 H->A: Complete loss of autocatalytic processing and of IL1B release 1211 1211 S->A: Partial loss of autocatalytic processing and of IL1B release 1212 1212 F->A: Complete loss of autocatalytic processing and of IL1B release 1213 1213 S->A: Complete loss of autocatalytic processing and of IL1B release 1213 1213 S->C: Complete loss of autocatalytic processing, which can be restored by treatment with hydroxylamine 1214 1214 P->A: Partial loss of autocatalytic processing (50%) and of IL1B release (50%) 1249 1249 H->A: Complete loss of autocatalytic processing and IL1B release"
Disease	"DISEASE: Vitiligo-associated multiple autoimmune disease 1 (VAMAS1) [MIM:606579]: A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus Note=Disease susceptibility is associated with variations affecting the gene represented in this entry ; DISEASE: Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225]: An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia In addition, patients experience a high susceptibility to malignant squamous cell carcinoma Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Autoinflammation with arthritis and dyskeratosis (AIADK) [MIM:617388]: A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level Inheritance can be autosomal dominant or autosomal recessive Note=The disease may be caused by mutations affecting the gene represented in this entry"

Q9C000 Proteins with LRR Repeats