Reviewed, UniProtKB/Swiss-Prot Q9C000 (NALP1_HUMAN)

Names and origin

Protein names

Recommended name:
    NACHT, LRR and PYD domains-containing protein 1
Alternative name(s):
    Death effector filament-forming ced-4-like apoptosis protein
    Nucleotide-binding domain and caspase recruitment domain
    Caspase recruitment domain-containing protein 7

Gene names

Name:	NLRP1
Synonyms:	CARD7, DEFCAP, KIAA0926, NAC, NALP1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1473 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	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.7 Ref.9 Ref.11
Subunit structure	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. Ref.4
Subcellular location	Cytoplasm. Nucleus Ref.10.
Tissue specificity	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. Ref.10 Ref.8
Involvement in disease	Genetic variations in NLRP1 are associated with susceptibility to vitiligo [MIM:193200]. Vitiligo is an autoimmune pigmentary anomaly of the skin manifested by depigmented white patches that may be surrounded by a hyperpigmented border. Ref.13 Genetic variations in NLRP1 gene are associated with susceptibility to vitiligo-associated multiple autoimmune disease type 1 (VAMAS1) [MIM:606579]. Vitiligo is an autoimmune skin disorder associated with progressive skin depigmentation. Among patients with generalized vitiligo, there is an increased frequency of several other autoimmune and autoinflammatory diseases, particularly autoimmune thyroid disease, latent autoimmune diabetes in adults, rheumatoid arthritis, systemic lupus erythematosus, psoriasis and Addison disease. Ref.13
Sequence similarities	Belongs to the NLRP family. Contains 1 CARD domain. Contains 1 DAPIN domain. Contains 7 LRR (leucine-rich) repeats. Contains 1 NACHT domain.

Ontologies

Keywords
Biological process	Apoptosis
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Leucine-rich repeat Repeat
Ligand	ATP-binding Nucleotide-binding
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	activation of caspase activity Ref.3 Ref.9 Non-traceable author statement. Source: UniProtKB defense response Inferred from electronic annotation. Source: InterPro induction of apoptosis Ref.3 Ref.9 Non-traceable author statement. Source: UniProtKB neuron apoptosis Ref.9 Inferred from direct assay. Source: HGNC
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ATP binding Ref.9 Inferred from direct assay. Source: HGNC caspase activator activity Ref.3 Non-traceable author statement. Source: UniProtKB enzyme binding Ref.3 Inferred from physical interaction. Source: UniProtKB protein domain specific binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BCL2	P10415	5	EBI-1220518,EBI-77694
BCL2L1	Q07817	4	EBI-1220518,EBI-78035
CASP1	P29466	1	EBI-1220518,EBI-516667
CASP5	P51878	1	EBI-1220518,EBI-1246700
PYCARD	Q9ULZ3	1	EBI-1220518,EBI-751215

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9C000-1)

Also known as: NAC beta; DEFCAP-L;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9C000-2)

Also known as: NAC alpha; DEFCAP-S;

The sequence of this isoform differs from the canonical sequence as follows:
     1262-1305: Missing.

Isoform 3 (identifier: Q9C000-3)

Also known as: NAC gamma;

The sequence of this isoform differs from the canonical sequence as follows:
     958-987: Missing.
     1262-1305: Missing.

Isoform 4 (identifier: Q9C000-4)

Also known as: NAC delta;

The sequence of this isoform differs from the canonical sequence as follows:
     958-987: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1473

1473

NACHT, LRR and PYD domains-containing protein 1

PRO_0000096710

Regions

Domain

1 – 92

92

DAPIN

Domain

328 – 637

310

NACHT

Repeat

704 – 725

22

LRR 1

Repeat

807 – 830

24

LRR 2

Repeat

864 – 887

24

LRR 3

Repeat

921 – 944

24

LRR 4

Repeat

950 – 973

24

LRR 5

Repeat

1199 – 1215

17

LRR 6

Repeat

1216 – 1236

21

LRR 7

Domain

1374 – 1463

90

CARD

Nucleotide binding

334 – 341

8

ATP Potential

Natural variations

Alternative sequence

958 – 987

30

Missing in isoform 3 and isoform 4.

VSP_004326

Alternative sequence

1262 – 1305

44

Missing in isoform 2 and isoform 3.

VSP_004327

Natural variant

155

1

L → H Associated with susceptibility to vitiligo and vitiligo-associated autoimmune diseases. dbSNP rs12150220. Ref.13 Ref.1

VAR_033239

Natural variant

246

1

T → S: dbSNP rs11651595. Ref.1

VAR_024238

Natural variant

404

1

R → Q: dbSNP rs3744718.

VAR_021886

Natural variant

878

1

T → M: dbSNP rs11657747. Ref.1

VAR_033240

Natural variant

1059

1

V → M: dbSNP rs2301582.

VAR_024239

Natural variant

1069

1

H → Y: dbSNP rs9907167.

VAR_033241

Natural variant

1119

1

M → V: dbSNP rs35596958. Ref.1

VAR_033242

Natural variant

1184

1

M → V: dbSNP rs11651270. Ref.1 Ref.6

VAR_033243

Natural variant

1241

1

V → L: dbSNP rs11653832. Ref.1

VAR_033244

Natural variant

1366

1

R → C: dbSNP rs2137722. Ref.1

VAR_020437

Experimental info

Mutagenesis

339 – 340

2

GK → EA: Abolishes binding to ATP. Ref.9 Ref.3

Mutagenesis

340

1

K → L or S: No effect. Ref.9 Ref.3

Sequence conflict

782

1

T → S in AAG15254. Ref.1

Sequence conflict

995

1

T → I in AAG15254. Ref.1

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

1473

Helix Strand Turn

Details...

Helix

9 – 15

7

Helix

18 – 31

14

Helix

50 – 60

11

Helix

63 – 77

15

Helix

80 – 85

6

Beta strand

88 – 91

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (NAC beta) (DEFCAP-L) [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 438F0DCE45C2562D	FASTA	1,473	165,866
	10 20 30 40 50 60 MAGGAWGRLA CYLEFLKKEE LKEFQLLLAN KAHSRSSSGE TPAQPEKTSG MEVASYLVAQ 70 80 90 100 110 120 YGEQRAWDLA LHTWEQMGLR SLCAQAQEGA GHSPSFPYSP SEPHLGSPSQ PTSTAVLMPW 130 140 150 160 170 180 IHELPAGCTQ GSERRVLRQL PDTSGRRWRE ISASLLYQAL PSSPDHESPS QESPNAPTST 190 200 210 220 230 240 AVLGSWGSPP QPSLAPREQE APGTQWPLDE TSGIYYTEIR EREREKSEKG RPPWAAVVGT 250 260 270 280 290 300 PPQAHTSLQP HHHPWEPSVR ESLCSTWPWK NEDFNQKFTQ LLLLQRPHPR SQDPLVKRSW 310 320 330 340 350 360 PDYVEENRGH LIEIRDLFGP GLDTQEPRIV ILQGAAGIGK STLARQVKEA WGRGQLYGDR 370 380 390 400 410 420 FQHVFYFSCR ELAQSKVVSL AELIGKDGTA TPAPIRQILS RPERLLFILD GVDEPGWVLQ 430 440 450 460 470 480 EPSSELCLHW SQPQPADALL GSLLGKTILP EASFLITART TALQNLIPSL EQARWVEVLG 490 500 510 520 530 540 FSESSRKEYF YRYFTDERQA IRAFRLVKSN KELWALCLVP WVSWLACTCL MQQMKRKEKL 550 560 570 580 590 600 TLTSKTTTTL CLHYLAQALQ AQPLGPQLRD LCSLAAEGIW QKKTLFSPDD LRKHGLDGAI 610 620 630 640 650 660 ISTFLKMGIL QEHPIPLSYS FIHLCFQEFF AAMSYVLEDE KGRGKHSNCI IDLEKTLEAY 670 680 690 700 710 720 GIHGLFGAST TRFLLGLLSD EGEREMENIF HCRLSQGRNL MQWVPSLQLL LQPHSLESLH 730 740 750 760 770 780 CLYETRNKTF LTQVMAHFEE MGMCVETDME LLVCTFCIKF SRHVKKLQLI EGRQHRSTWS 790 800 810 820 830 840 PTMVVLFRWV PVTDAYWQIL FSVLKVTRNL KELDLSGNSL SHSAVKSLCK TLRRPRCLLE 850 860 870 880 890 900 TLRLAGCGLT AEDCKDLAFG LRANQTLTEL DLSFNVLTDA GAKHLCQRLR QPSCKLQRLQ 910 920 930 940 950 960 LVSCGLTSDC CQDLASVLSA SPSLKELDLQ QNNLDDVGVR LLCEGLRHPA CKLIRLGLDQ 970 980 990 1000 1010 1020 TTLSDEMRQE LRALEQEKPQ LLIFSRRKPS VMTPTEGLDT GEMSNSTSSL KRQRLGSERA 1030 1040 1050 1060 1070 1080 ASHVAQANLK LLDVSKIFPI AEIAEESSPE VVPVELLCVP SPASQGDLHT KPLGTDDDFW 1090 1100 1110 1120 1130 1140 GPTGPVATEV VDKEKNLYRV HFPVAGSYRW PNTGLCFVMR EAVTVEIEFC VWDQFLGEIN 1150 1160 1170 1180 1190 1200 PQHSWMVAGP LLDIKAEPGA VEAVHLPHFV ALQGGHVDTS LFQMAHFKEE GMLLEKPARV 1210 1220 1230 1240 1250 1260 ELHHIVLENP SFSPLGVLLK MIHNALRFIP VTSVVLLYHR VHPEEVTFHL YLIPSDCSIR 1270 1280 1290 1300 1310 1320 KAIDDLEMKF QFVRIHKPPP LTPLYMGCRY TVSGSGSGML EILPKELELC YRSPGEDQLF 1330 1340 1350 1360 1370 1380 SEFYVGHLGS GIRLQVKDKK DETLVWEALV KPGDLMPATT LIPPARIAVP SPLDAPQLLH 1390 1400 1410 1420 1430 1440 FVDQYREQLI ARVTSVEVVL DKLHGQVLSQ EQYERVLAEN TRPSQMRKLF SLSQSWDRKC 1450 1460 1470 KDGLYQALKE THPHLIMELW EKGSKKGLLP LSS
	Isoform 2 (NAC alpha) (DEFCAP-S). Checksum: 6C5CBE8FD2819435	FASTA	1,429	160,946
	10 20 30 40 50 60 MAGGAWGRLA CYLEFLKKEE LKEFQLLLAN KAHSRSSSGE TPAQPEKTSG MEVASYLVAQ 70 80 90 100 110 120 YGEQRAWDLA LHTWEQMGLR SLCAQAQEGA GHSPSFPYSP SEPHLGSPSQ PTSTAVLMPW 130 140 150 160 170 180 IHELPAGCTQ GSERRVLRQL PDTSGRRWRE ISASLLYQAL PSSPDHESPS QESPNAPTST 190 200 210 220 230 240 AVLGSWGSPP QPSLAPREQE APGTQWPLDE TSGIYYTEIR EREREKSEKG RPPWAAVVGT 250 260 270 280 290 300 PPQAHTSLQP HHHPWEPSVR ESLCSTWPWK NEDFNQKFTQ LLLLQRPHPR SQDPLVKRSW 310 320 330 340 350 360 PDYVEENRGH LIEIRDLFGP GLDTQEPRIV ILQGAAGIGK STLARQVKEA WGRGQLYGDR 370 380 390 400 410 420 FQHVFYFSCR ELAQSKVVSL AELIGKDGTA TPAPIRQILS RPERLLFILD GVDEPGWVLQ 430 440 450 460 470 480 EPSSELCLHW SQPQPADALL GSLLGKTILP EASFLITART TALQNLIPSL EQARWVEVLG 490 500 510 520 530 540 FSESSRKEYF YRYFTDERQA IRAFRLVKSN KELWALCLVP WVSWLACTCL MQQMKRKEKL 550 560 570 580 590 600 TLTSKTTTTL CLHYLAQALQ AQPLGPQLRD LCSLAAEGIW QKKTLFSPDD LRKHGLDGAI 610 620 630 640 650 660 ISTFLKMGIL QEHPIPLSYS FIHLCFQEFF AAMSYVLEDE KGRGKHSNCI IDLEKTLEAY 670 680 690 700 710 720 GIHGLFGAST TRFLLGLLSD EGEREMENIF HCRLSQGRNL MQWVPSLQLL LQPHSLESLH 730 740 750 760 770 780 CLYETRNKTF LTQVMAHFEE MGMCVETDME LLVCTFCIKF SRHVKKLQLI EGRQHRSTWS 790 800 810 820 830 840 PTMVVLFRWV PVTDAYWQIL FSVLKVTRNL KELDLSGNSL SHSAVKSLCK TLRRPRCLLE 850 860 870 880 890 900 TLRLAGCGLT AEDCKDLAFG LRANQTLTEL DLSFNVLTDA GAKHLCQRLR QPSCKLQRLQ 910 920 930 940 950 960 LVSCGLTSDC CQDLASVLSA SPSLKELDLQ QNNLDDVGVR LLCEGLRHPA CKLIRLGLDQ 970 980 990 1000 1010 1020 TTLSDEMRQE LRALEQEKPQ LLIFSRRKPS VMTPTEGLDT GEMSNSTSSL KRQRLGSERA 1030 1040 1050 1060 1070 1080 ASHVAQANLK LLDVSKIFPI AEIAEESSPE VVPVELLCVP SPASQGDLHT KPLGTDDDFW 1090 1100 1110 1120 1130 1140 GPTGPVATEV VDKEKNLYRV HFPVAGSYRW PNTGLCFVMR EAVTVEIEFC VWDQFLGEIN 1150 1160 1170 1180 1190 1200 PQHSWMVAGP LLDIKAEPGA VEAVHLPHFV ALQGGHVDTS LFQMAHFKEE GMLLEKPARV 1210 1220 1230 1240 1250 1260 ELHHIVLENP SFSPLGVLLK MIHNALRFIP VTSVVLLYHR VHPEEVTFHL YLIPSDCSIR 1270 1280 1290 1300 1310 1320 KELELCYRSP GEDQLFSEFY VGHLGSGIRL QVKDKKDETL VWEALVKPGD LMPATTLIPP 1330 1340 1350 1360 1370 1380 ARIAVPSPLD APQLLHFVDQ YREQLIARVT SVEVVLDKLH GQVLSQEQYE RVLAENTRPS 1390 1400 1410 1420 QMRKLFSLSQ SWDRKCKDGL YQALKETHPH LIMELWEKGS KKGLLPLSS
	Isoform 3 (NAC gamma). Checksum: 59C172B75766F38F	FASTA	1,399	157,319
	10 20 30 40 50 60 MAGGAWGRLA CYLEFLKKEE LKEFQLLLAN KAHSRSSSGE TPAQPEKTSG MEVASYLVAQ 70 80 90 100 110 120 YGEQRAWDLA LHTWEQMGLR SLCAQAQEGA GHSPSFPYSP SEPHLGSPSQ PTSTAVLMPW 130 140 150 160 170 180 IHELPAGCTQ GSERRVLRQL PDTSGRRWRE ISASLLYQAL PSSPDHESPS QESPNAPTST 190 200 210 220 230 240 AVLGSWGSPP QPSLAPREQE APGTQWPLDE TSGIYYTEIR EREREKSEKG RPPWAAVVGT 250 260 270 280 290 300 PPQAHTSLQP HHHPWEPSVR ESLCSTWPWK NEDFNQKFTQ LLLLQRPHPR SQDPLVKRSW 310 320 330 340 350 360 PDYVEENRGH LIEIRDLFGP GLDTQEPRIV ILQGAAGIGK STLARQVKEA WGRGQLYGDR 370 380 390 400 410 420 FQHVFYFSCR ELAQSKVVSL AELIGKDGTA TPAPIRQILS RPERLLFILD GVDEPGWVLQ 430 440 450 460 470 480 EPSSELCLHW SQPQPADALL GSLLGKTILP EASFLITART TALQNLIPSL EQARWVEVLG 490 500 510 520 530 540 FSESSRKEYF YRYFTDERQA IRAFRLVKSN KELWALCLVP WVSWLACTCL MQQMKRKEKL 550 560 570 580 590 600 TLTSKTTTTL CLHYLAQALQ AQPLGPQLRD LCSLAAEGIW QKKTLFSPDD LRKHGLDGAI 610 620 630 640 650 660 ISTFLKMGIL QEHPIPLSYS FIHLCFQEFF AAMSYVLEDE KGRGKHSNCI IDLEKTLEAY 670 680 690 700 710 720 GIHGLFGAST TRFLLGLLSD EGEREMENIF HCRLSQGRNL MQWVPSLQLL LQPHSLESLH 730 740 750 760 770 780 CLYETRNKTF LTQVMAHFEE MGMCVETDME LLVCTFCIKF SRHVKKLQLI EGRQHRSTWS 790 800 810 820 830 840 PTMVVLFRWV PVTDAYWQIL FSVLKVTRNL KELDLSGNSL SHSAVKSLCK TLRRPRCLLE 850 860 870 880 890 900 TLRLAGCGLT AEDCKDLAFG LRANQTLTEL DLSFNVLTDA GAKHLCQRLR QPSCKLQRLQ 910 920 930 940 950 960 LVSCGLTSDC CQDLASVLSA SPSLKELDLQ QNNLDDVGVR LLCEGLRHPA CKLIRLGKPS 970 980 990 1000 1010 1020 VMTPTEGLDT GEMSNSTSSL KRQRLGSERA ASHVAQANLK LLDVSKIFPI AEIAEESSPE 1030 1040 1050 1060 1070 1080 VVPVELLCVP SPASQGDLHT KPLGTDDDFW GPTGPVATEV VDKEKNLYRV HFPVAGSYRW 1090 1100 1110 1120 1130 1140 PNTGLCFVMR EAVTVEIEFC VWDQFLGEIN PQHSWMVAGP LLDIKAEPGA VEAVHLPHFV 1150 1160 1170 1180 1190 1200 ALQGGHVDTS LFQMAHFKEE GMLLEKPARV ELHHIVLENP SFSPLGVLLK MIHNALRFIP 1210 1220 1230 1240 1250 1260 VTSVVLLYHR VHPEEVTFHL YLIPSDCSIR KELELCYRSP GEDQLFSEFY VGHLGSGIRL 1270 1280 1290 1300 1310 1320 QVKDKKDETL VWEALVKPGD LMPATTLIPP ARIAVPSPLD APQLLHFVDQ YREQLIARVT 1330 1340 1350 1360 1370 1380 SVEVVLDKLH GQVLSQEQYE RVLAENTRPS QMRKLFSLSQ SWDRKCKDGL YQALKETHPH 1390 LIMELWEKGS KKGLLPLSS
	Isoform 4 (NAC delta). Checksum: C30E9BE9EC82FE96	FASTA	1,443	162,239
	10 20 30 40 50 60 MAGGAWGRLA CYLEFLKKEE LKEFQLLLAN KAHSRSSSGE TPAQPEKTSG MEVASYLVAQ 70 80 90 100 110 120 YGEQRAWDLA LHTWEQMGLR SLCAQAQEGA GHSPSFPYSP SEPHLGSPSQ PTSTAVLMPW 130 140 150 160 170 180 IHELPAGCTQ GSERRVLRQL PDTSGRRWRE ISASLLYQAL PSSPDHESPS QESPNAPTST 190 200 210 220 230 240 AVLGSWGSPP QPSLAPREQE APGTQWPLDE TSGIYYTEIR EREREKSEKG RPPWAAVVGT 250 260 270 280 290 300 PPQAHTSLQP HHHPWEPSVR ESLCSTWPWK NEDFNQKFTQ LLLLQRPHPR SQDPLVKRSW 310 320 330 340 350 360 PDYVEENRGH LIEIRDLFGP GLDTQEPRIV ILQGAAGIGK STLARQVKEA WGRGQLYGDR 370 380 390 400 410 420 FQHVFYFSCR ELAQSKVVSL AELIGKDGTA TPAPIRQILS RPERLLFILD GVDEPGWVLQ 430 440 450 460 470 480 EPSSELCLHW SQPQPADALL GSLLGKTILP EASFLITART TALQNLIPSL EQARWVEVLG 490 500 510 520 530 540 FSESSRKEYF YRYFTDERQA IRAFRLVKSN KELWALCLVP WVSWLACTCL MQQMKRKEKL 550 560 570 580 590 600 TLTSKTTTTL CLHYLAQALQ AQPLGPQLRD LCSLAAEGIW QKKTLFSPDD LRKHGLDGAI 610 620 630 640 650 660 ISTFLKMGIL QEHPIPLSYS FIHLCFQEFF AAMSYVLEDE KGRGKHSNCI IDLEKTLEAY 670 680 690 700 710 720 GIHGLFGAST TRFLLGLLSD EGEREMENIF HCRLSQGRNL MQWVPSLQLL LQPHSLESLH 730 740 750 760 770 780 CLYETRNKTF LTQVMAHFEE MGMCVETDME LLVCTFCIKF SRHVKKLQLI EGRQHRSTWS 790 800 810 820 830 840 PTMVVLFRWV PVTDAYWQIL FSVLKVTRNL KELDLSGNSL SHSAVKSLCK TLRRPRCLLE 850 860 870 880 890 900 TLRLAGCGLT AEDCKDLAFG LRANQTLTEL DLSFNVLTDA GAKHLCQRLR QPSCKLQRLQ 910 920 930 940 950 960 LVSCGLTSDC CQDLASVLSA SPSLKELDLQ QNNLDDVGVR LLCEGLRHPA CKLIRLGKPS 970 980 990 1000 1010 1020 VMTPTEGLDT GEMSNSTSSL KRQRLGSERA ASHVAQANLK LLDVSKIFPI AEIAEESSPE 1030 1040 1050 1060 1070 1080 VVPVELLCVP SPASQGDLHT KPLGTDDDFW GPTGPVATEV VDKEKNLYRV HFPVAGSYRW 1090 1100 1110 1120 1130 1140 PNTGLCFVMR EAVTVEIEFC VWDQFLGEIN PQHSWMVAGP LLDIKAEPGA VEAVHLPHFV 1150 1160 1170 1180 1190 1200 ALQGGHVDTS LFQMAHFKEE GMLLEKPARV ELHHIVLENP SFSPLGVLLK MIHNALRFIP 1210 1220 1230 1240 1250 1260 VTSVVLLYHR VHPEEVTFHL YLIPSDCSIR KAIDDLEMKF QFVRIHKPPP LTPLYMGCRY 1270 1280 1290 1300 1310 1320 TVSGSGSGML EILPKELELC YRSPGEDQLF SEFYVGHLGS GIRLQVKDKK DETLVWEALV 1330 1340 1350 1360 1370 1380 KPGDLMPATT LIPPARIAVP SPLDAPQLLH FVDQYREQLI ARVTSVEVVL DKLHGQVLSQ 1390 1400 1410 1420 1430 1440 EQYERVLAEN TRPSQMRKLF SLSQSWDRKC KDGLYQALKE THPHLIMELW EKGSKKGLLP LSS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The PYRIN domain: a novel motif found in apoptosis and inflammation proteins." Bertin J., DiStefano P.S. Cell Death Differ. 7:1273-1274(2000) [PubMed: 11270363] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS HIS-155; SER-246; MET-878; VAL-1119; VAL-1184; LEU-1241 AND CYS-1366.
[2]	"The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation." Martinon F., Hofmann K., Tschopp J. Curr. Biol. 11:R118-R120(2001) [PubMed: 11250163] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]	"Molecular cloning and characterization of DEFCAP-L and -S, two isoforms of a novel member of the mammalian Ced-4 family of apoptosis proteins." Hlaing T., Guo R.-F., Dilley K.A., Loussia J.M., Morrish T.A., Shi M.M., Vincenz C., Ward P.A. J. Biol. Chem. 276:9230-9238(2001) [PubMed: 11076957] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), MUTAGENESIS OF LYS-340. Tissue: Erythroleukemia.
[4]	"A novel enhancer of the Apaf1 apoptosome involved in cytochrome c-dependent caspase activation and apoptosis." Chu Z.-L., Pio F., Xie Z., Welsh K., Krajewska M., Krajewski S., Godzik A., Reed J.C. J. Biol. Chem. 276:9239-9245(2001) [PubMed: 11113115] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), INTERACTION WITH CASP2 AND CASP9. Tissue: T-cell.
[5]	"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:63-70(1999) [PubMed: 10231032] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 282-1473 (ISOFORM 1), VARIANT VAL-1184. Tissue: Uterus.
[7]	"The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta." Martinon F., Burns K., Tschopp J. Mol. Cell 10:417-426(2002) [PubMed: 12191486] [Abstract] Cited for: FUNCTION, IDENTIFICATION IN NALP1 INFLAMMASOME COMPLEX.
[8]	"NALP1 is a transcriptional target for cAMP-response-element-binding protein (CREB) in myeloid leukaemia cells." Sanz C., Calasanz M.J., Andreu E., Richard C., Prosper F., Fernandez-Luna J.L. Biochem. J. 384:281-286(2004) [PubMed: 15285719] [Abstract] Cited for: TISSUE SPECIFICITY.
[9]	"Expression of NALP1 in cerebellar granule neurons stimulates apoptosis." Liu F., Lo C.F., Ning X., Kajkowski E.M., Jin M., Chiriac C., Gonzales C., Naureckiene S., Lock Y.-W., Pong K., Zaleska M.M., Jacobsen J.S., Silverman S., Ozenberger B.A. Cell. Signal. 16:1013-1021(2004) [PubMed: 15212762] [Abstract] Cited for: FUNCTION, MUTAGENESIS OF 339-GLY-LYS-340.
[10]	"Inflammasome components NALP 1 and 3 Show distinct but separate Expression profiles in human tissues suggesting a site-specific role in the inflammatory response." Kummer J.A., Broekhuizen R., Everett H., Agostini L., Kuijk L., Martinon F., van Bruggen R., Tschopp J. J. Histochem. Cytochem. 55:443-452(2007) [PubMed: 17164409] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[11]	"Reconstituted NALP1 inflammasome reveals two-step mechanism of caspase-1 activation." Faustin B., Lartigue L., Bruey J.-M., Luciano F., Sergienko E., Bailly-Maitre B., Volkmann N., Hanein D., Rouiller I., Reed J.C. Mol. Cell 25:713-724(2007) [PubMed: 17349957] [Abstract] Cited for: FUNCTION.
[12]	"NMR structure of the apoptosis- and inflammation-related NALP1 pyrin domain." Hiller S., Kohl A., Fiorito F., Herrmann T., Wider G., Tschopp J., Gruetter M.G., Wuethrich K. Structure 11:1199-1205(2003) [PubMed: 14527388] [Abstract] Cited for: STRUCTURE BY NMR OF 1-93.
[13]	"NALP1 in vitiligo-associated multiple autoimmune disease." Jin Y., Mailloux C.M., Gowan K., Riccardi S.L., LaBerge G., Bennett D.C., Fain P.R., Spritz R.A. N. Engl. J. Med. 356:1216-1225(2007) [PubMed: 17377159] [Abstract] Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO VITILIGO AND VITILIGO-ASSOCIATED AUTOIMMUNE DISEASES, VARIANT HIS-155.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF298548 mRNA. Translation: AAG15254.1.
AF310105 mRNA. Translation: AAG30288.1.
AF229059 mRNA. Translation: AAK00748.1.
AF229060 mRNA. Translation: AAK00749.1.
AF229061 mRNA. Translation: AAK00750.1.
AF229062 mRNA. Translation: AAK00751.1.
AB023143 mRNA. Translation: BAA76770.2. Different initiation.
AL117470 mRNA. Translation: CAB55945.1.

IPI

IPI00004551.
IPI00099688.
IPI00328123.
IPI00335800.

PIR

T17255.

RefSeq

NP_001028225.1.
NP_055737.1.
NP_127497.1.
NP_127499.1.
NP_127500.1.

UniGene

Hs.652273

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1PN5	NMR	-	A	1-93	[»]
3KAT	X-ray	3.10	A	1371-1467	[»]

SMR

Q9C000. Positions 788-985, 1380-1473.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-38407N.

IntAct

Q9C000. 6 interactions.

STRING

Q9C000.

Proteomic databases

PRIDE

Q9C000.

Genome annotation databases

Ensembl

ENST00000269280; ENSP00000269280; ENSG00000091592; Homo sapiens. [Genome view]

GeneID

22861.

KEGG

hsa:22861.

UCSC

uc002gch.2. human.
uc002gci.1. human.
uc002gcj.1. human.
uc002gcl.1. human.

Organism-specific databases

CTD

22861.

GeneCards

GC17M005354.

H-InvDB

HIX0013474.

HGNC

HGNC:14374. NLRP1.

HPA

CAB009189.

MIM

193200. phenotype.
606579. phenotype.
606636. gene.

Orphanet

3435. Vitiligo.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG18033.

HOGENOM

HBG282263.

HOVERGEN

Q9C000.

InParanoid

Q9C000.

OMA

LIMELWE.

PhylomeDB

Q9C000.

Enzyme and pathway databases

Pathway_Interaction_DB

anthraxpathway. Cellular roles of Anthrax toxin.

Gene expression databases

ArrayExpress

Q9C000.

Bgee

Q9C000.

CleanEx

HS_NLRP1.

Genevestigator

Q9C000.

GermOnline

ENSG00000091592. Homo sapiens.

Family and domain databases

InterPro

IPR001315. CARD.
IPR011029. DEATH-like.
IPR000767. Disease_R.
IPR001611. Leu-rich_rpt.
IPR007111. NACHT_NTPase.
IPR004020. Pyrin.
[Graphical view]

Gene3D

G3DSA:1.10.533.10. DEATH_like. 1 hit.

Pfam

PF00619. CARD. 1 hit.
PF00560. LRR_1. 1 hit.
PF02758. PAAD_DAPIN. 1 hit.
[Graphical view]

PRINTS

PR00364. DISEASERSIST.

PROSITE

PS50209. CARD. 1 hit.
PS50824. DAPIN. 1 hit.
PS51450. LRR. 3 hits.
PS50837. NACHT. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

43357.

SOURCE

Search...

Entry information

Entry name

NALP1_HUMAN

Accession

Primary (citable) accession number: Q9C000
Secondary accession number(s): Q9BZZ8 , Q9BZZ9, Q9HAV8, Q9UFT4, Q9Y2E0

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 18, 2001
Last sequence update:	June 1, 2001
Last modified:	February 9, 2010
This is version 107 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.