| Tag | Content |
|---|---|
| UniProt Accession | NLRP1_HUMAN; Q9C000; |
| Entrez ID | 22861 |
| GenBank Protein ID | NM_001033053.2; NM_014922.4; NM_033004.3; NM_033006.3; NM_033007.3; |
| GenBank Nucleotide ID | NP_001028225.1; NP_055737.1; NP_127497.1; NP_127499.1; NP_127500.1; |
| Protein Name | NACHT, LRR and PYD domains-containing protein 1 (Caspase recruitment domain-containing protein 7) (Death effector filament-forming ced-4-like apoptosis protein) (Nucleotide-binding domain and caspase recruitment domain) |
| Gene Name | NLRP1; CARD7; DEFCAP; KIAA0926; NAC; NALP1 |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | 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 infla(view all) |
| Sequence (Fasta) | MAGGAWGRLA CYLEFLKKEE LKEFQLLLAN KAHSRSSSGE TPAQPEKTSG MEVASYLVAQ 60 YGEQRAWDLA LHTWEQMGLR SLCAQAQEGA GHSPSFPYSP SEPHLGSPSQ PTSTAVLMPW 120 IHELPAGCTQ GSERRVLRQL PDTSGRRWRE ISASLLYQAL PSSPDHESPS QESPNAPTST 180 AVLGSWGSPP QPSLAPREQE APGTQWPLDE TSGIYYTEIR EREREKSEKG RPPWAAVVGT 240 PPQAHTSLQP HHHPWEPSVR ESLCSTWPWK NEDFNQKFTQ LLLLQRPHPR SQDPLVKRSW 300 PDYVEENRGH LIEIRDLFGP GLDTQEPRIV ILQGAAGIGK STLARQVKEA WGRGQLYGDR 360 FQHVFYFSCR ELAQSKVVSL AELIGKDGTA TPAPIRQILS RPERLLFILD GVDEPGWVLQ 420 EPSSELCLHW SQPQPADALL GSLLGKTILP EASFLITART TALQNLIPSL EQARWVEVLG 480 FSESSRKEYF YRYFTDERQA IRAFRLVKSN KELWALCLVP WVSWLACTCL MQQMKRKEKL 540 TLTSKTTTTL CLHYLAQALQ AQPLGPQLRD LCSLAAEGIW QKKTLFSPDD LRKHGLDGAI 600 ISTFLKMGIL QEHPIPLSYS FIHLCFQEFF AAMSYVLEDE KGRGKHSNCI IDLEKTLEAY 660 GIHGLFGAST TRFLLGLLSD EGEREMENIF HCRLSQGRNL MQWVPSLQLL LQPHSLESLH 720 CLYETRNKTF LTQVMAHFEE MGMCVETDME LLVCTFCIKF SRHVKKLQLI EGRQHRSTWS 780 PTMVVLFRWV PVTDAYWQIL FSVLKVTRNL KELDLSGNSL SHSAVKSLCK TLRRPRCLLE 840 TLRLAGCGLT AEDCKDLAFG LRANQTLTEL DLSFNVLTDA GAKHLCQRLR QPSCKLQRLQ 900 LVSCGLTSDC CQDLASVLSA SPSLKELDLQ QNNLDDVGVR LLCEGLRHPA CKLIRLGLDQ 960 TTLSDEMRQE LRALEQEKPQ LLIFSRRKPS VMTPTEGLDT GEMSNSTSSL KRQRLGSERA 1020 ASHVAQANLK LLDVSKIFPI AEIAEESSPE VVPVELLCVP SPASQGDLHT KPLGTDDDFW 1080 GPTGPVATEV VDKEKNLYRV HFPVAGSYRW PNTGLCFVMR EAVTVEIEFC VWDQFLGEIN 1140 PQHSWMVAGP LLDIKAEPGA VEAVHLPHFV ALQGGHVDTS LFQMAHFKEE GMLLEKPARV 1200 ELHHIVLENP SFSPLGVLLK MIHNALRFIP VTSVVLLYHR VHPEEVTFHL YLIPSDCSIR 1260 KAIDDLEMKF QFVRIHKPPP LTPLYMGCRY TVSGSGSGML EILPKELELC YRSPGEDQLF 1320 SEFYVGHLGS GIRLQVKDKK DETLVWEALV KPGDLMPATT LIPPARIAVP SPLDAPQLLH 1380 FVDQYREQLI ARVTSVEVVL DKLHGQVLSQ EQYERVLAEN TRPSQMRKLF SLSQSWDRKC 1440 KDGLYQALKE THPHLIMELW EKGSKKGLLP LSS 1474 |
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| Database | Annotation |
|---|---|
| CTD (Curated) (count: 3) | OMIM:617388
; AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS OMIM:615225 ; PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING OMIM:606579 ; VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 |
| DisGeNet (Curated) (count: 6) | C0013575; Ectodermal Dysplasia
C0022596; Palmoplantar Keratosis C0030436; Parakeratosis C0085109; Corneal Neovascularization C1847835; VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) C3808876; CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA |
| HGMD (count: 1) | CM074383; Vitiligo-assoc. multiple autoimm. disease suscep.; Missense/nonsense
|
| GWASdb (count: 8) (view all) | rs9900356; Coronary artery calcification; coronary artery disease
rs11651270; Myocardial Infarction; myocardial infarction rs11868655; LDL cholesterol; atherosclerosis|coronary artery disease rs11868655; Cholesterol, total; coronary artery disease|lipid metabolism disorder|arteriosclerosis rs12952208; Multiple complex diseases; Null rs9889625; Multiple complex diseases; Null |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 3) | 1000 TPTEGLDTGEMSNST dbPAF
823 SGNSLSHSAVKSLCK dbPAF 995 KPSVMTPTEGLDTGE dbPAF |
| Ubiquitination (count: 3) | 297 RSQDPLVKRSWPDYV PLMD
340 QGAAGIGKSTLARQV PLMD 855 GLTAEDCKDLAFGLR PLMD |
| Network | Interaction | ||
|---|---|---|---|
| A | B | Source | |