Q96P20 (NALP3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NACHT, LRR and PYD domains-containing protein 3

Alternative name(s):
Angiotensin/vasopressin receptor AII/AVP-like
Caterpiller protein 1.1
Short name=CLR1.1
Cold autoinflammatory syndrome 1 protein
Cryopyrin
PYRIN-containing APAF1-like protein 1

Gene names

Name:	NLRP3
Synonyms:	C1orf7, CIAS1, NALP3, PYPAF1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1036 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May function as an inducer of apoptosis. Interacts selectively with ASC and this complex may function as an upstream activator of NF-kappa-B signaling. Inhibits TNF-alpha induced activation and nuclear translocation of RELA/NF-KB p65. Also inhibits transcriptional activity of RELA. Activates caspase-1 in response to a number of triggers including bacterial or viral infection which leads to processing and release of IL1B and IL18. Ref.3 Ref.4
Subunit structure	Interacts with PYCARD/ASC. Part of the NALP3 inflammasome complex which is involved in activation of caspase-1 and caspase-5, leading to processing of IL1B and IL18. Interacts with PML (isoform PML-1) Interacts with EIF2AK2/PKR. Ref.3 Ref.11 Ref.14 Ref.15
Subcellular location	Cytoplasm Ref.3 Ref.4 Ref.12.
Tissue specificity	Expressed in blood leukocytes. Strongly expressed in polymorphonuclear cells and osteoblasts. Undetectable or expressed at a lower magnitude in B- and T-lymphoblasts, respectively. High level of expression detected in chondrocytes. Detected in non-keratinizing epithelia of oropharynx, esophagus and ectocervix and in the urothelial layer of the bladder. Ref.3 Ref.12 Ref.13 Ref.18
Induction	By TNF. Ref.4
Post-translational modification	The disulfide bond in the DAPIN domain may play a role in inflammation activation by reactive oxygen species.
Involvement in disease	Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100]: A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. Rarely, some patients may also develop late-onset renal amyloidosis. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2 Ref.17 Ref.20 Ref.22 Ref.25 Muckle-Wells syndrome (MWS) [MIM:191900]: A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized reactive amyloidosis occurs. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2 Ref.17 Ref.22 Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]: Rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.18 Ref.19 Ref.21 Ref.22 Ref.23 Ref.24
Sequence similarities	Belongs to the NLRP family. Contains 1 DAPIN domain. Contains 9 LRR (leucine-rich) repeats. Contains 1 NACHT domain.
Sequence caution	The sequence AAC39910.1 differs from that shown. Reason: Frameshift at positions 893, 918 and 926. The sequence AAL12497.1 differs from that shown. Reason: Erroneous initiation. The sequence AAL12498.1 differs from that shown. Reason: Erroneous initiation. The sequence AAL33908.1 differs from that shown. Reason: Erroneous initiation. The sequence AAL65136.1 differs from that shown. Reason: Erroneous initiation. The sequence AAQ98889.1 differs from that shown. Reason: Erroneous initiation. The sequence BAD92128.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAG37494.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAI17155.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Apoptosis
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing
Disease	Amyloidosis Deafness Disease mutation
Domain	Leucine-rich repeat Repeat
Ligand	ATP-binding Nucleotide-binding
PTM	Disulfide bond
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	NLRP3 inflammasome complex assembly Inferred from electronic annotation. Source: Ensembl activation of cysteine-type endopeptidase activity involved in apoptotic process Inferred from electronic annotation. Source: Ensembl cellular response to lipopolysaccharide Inferred from mutant phenotype Ref.19. Source: BHF-UCL defense response to virus Inferred from electronic annotation. Source: Ensembl detection of biotic stimulus Traceable author statement PubMed 15967716. Source: HGNC inflammatory response Inferred from mutant phenotype PubMed 12093792. Source: UniProtKB innate immune response Traceable author statement. Source: Reactome interleukin-1 beta production Inferred from electronic annotation. Source: Ensembl interleukin-1 secretion Inferred from electronic annotation. Source: Ensembl interleukin-18 production Inferred from electronic annotation. Source: Ensembl negative regulation of NF-kappaB import into nucleus Inferred from direct assay Ref.4. Source: HGNC negative regulation of NF-kappaB transcription factor activity Inferred from direct assay Ref.4. Source: HGNC negative regulation of acute inflammatory response Inferred from mutant phenotype Ref.1. Source: BHF-UCL negative regulation of interleukin-1 beta secretion Inferred from mutant phenotype Ref.19. Source: BHF-UCL nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway Traceable author statement. Source: Reactome positive regulation of NF-kappaB transcription factor activity Inferred from direct assay PubMed 19158675. Source: UniProtKB positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Inferred from direct assay Ref.11. Source: HGNC positive regulation of interleukin-1 beta secretion Inferred from direct assay Ref.11. Source: HGNC protein oligomerization Traceable author statement PubMed 15967716. Source: HGNC
Cellular_component	NLRP3 inflammasome complex Inferred from direct assay Ref.11. Source: UniProtKB cytosol Traceable author statement. Source: Reactome
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW peptidoglycan binding Traceable author statement PubMed 15967716. Source: HGNC
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
MAVS	Q7Z434	4	EBI-6253230,EBI-995373
PYCARD	Q9ULZ3	4	EBI-6253230,EBI-751215

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Isoform 2 (identifier: Q96P20-1)

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 1 (identifier: Q96P20-2)

The sequence of this isoform differs from the canonical sequence as follows:
     721-777: Missing.
     836-892: Missing.

Isoform 3 (identifier: Q96P20-3)

The sequence of this isoform differs from the canonical sequence as follows:
     720-1036: Missing.

Isoform 4 (identifier: Q96P20-4)

The sequence of this isoform differs from the canonical sequence as follows:
     721-777: Missing.

Isoform 5 (identifier: Q96P20-5)

The sequence of this isoform differs from the canonical sequence as follows:
     836-892: Missing.

Note: No experimental confirmation available.

Isoform 6 (identifier: Q96P20-6)

The sequence of this isoform differs from the canonical sequence as follows:
     776-796: WLGRCGLSHECCFDISLVLSS → C

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1036

1036

NACHT, LRR and PYD domains-containing protein 3

PRO_0000080886

Regions

Domain

1 – 93

93

DAPIN

Domain

220 – 536

317

NACHT

Repeat

742 – 762

21

LRR 1

Repeat

771 – 792

22

LRR 2

Repeat

799 – 819

21

LRR 3

Repeat

828 – 849

22

LRR 4

Repeat

856 – 876

21

LRR 5

Repeat

885 – 906

22

LRR 6

Repeat

913 – 933

21

LRR 7

Repeat

942 – 963

22

LRR 8

Repeat

970 – 991

22

LRR 9

Nucleotide binding

226 – 233

8

ATP Potential

Compositional bias

690 – 697

8

Poly-Glu

Amino acid modifications

Disulfide bond

8 ↔ 108

Redox-active

Natural variations

Alternative sequence

720 – 1036

317

Missing in isoform 3.

VSP_005519

Alternative sequence

721 – 777

57

Missing in isoform 1 and isoform 4.

VSP_005520

Alternative sequence

776 – 796

21

WLGRC…LVLSS → C in isoform 6.

VSP_053714

Alternative sequence

836 – 892

57

Missing in isoform 1 and isoform 5.

VSP_005521

Natural variant

174

1

I → T in CINCA. Ref.24

VAR_043679

Natural variant

200

1

V → M in FCAS1 and MWS. Ref.1 Ref.2 Ref.17 Ref.22
Corresponds to variant rs121908147 [ dbSNP | Ensembl ].

VAR_013227

Natural variant

262

1

R → L in CINCA. Ref.23

VAR_043680

Natural variant

262

1

R → P in CINCA. Ref.23

VAR_043681

Natural variant

262

1

R → W in FCAS1 and MWS. Ref.2 Ref.17

VAR_014104

Natural variant

266

1

L → H in CINCA. Ref.19

VAR_043682

Natural variant

305

1

D → G in CINCA. Ref.23

VAR_043683

Natural variant

305

1

D → N in CINCA and MWS. Ref.17 Ref.18 Ref.19 Ref.22 Ref.23

VAR_014105

Natural variant

307

1

L → P in FCAS1 and MWS. Ref.2 Ref.22

VAR_014124

Natural variant

308

1

Q → L in CINCA. Ref.18

VAR_043684

Natural variant

311

1

F → S in CINCA. Ref.18 Ref.23

VAR_014106

Natural variant

350

1

T → M in MWS and CINCA. Ref.17 Ref.22 Ref.23

VAR_014366

Natural variant

354

1

A → V in MWS. Ref.1

VAR_013228

Natural variant

355

1

L → P in FCAS1. Ref.20
Corresponds to variant rs28937896 [ dbSNP | Ensembl ].

VAR_043685

Natural variant

356

1

E → D in CINCA. Ref.23

VAR_043686

Natural variant

360

1

H → R in CINCA. Ref.18

VAR_014367

Natural variant

407

1

T → P in CINCA. Ref.23

VAR_043687

Natural variant

438

1

T → I in CINCA. Ref.23

VAR_043688

Natural variant

438

1

T → N in CINCA. Ref.18

VAR_014368

Natural variant

441

1

A → T in MWS. Ref.17

VAR_014369

Natural variant

441

1

A → V in FCAS1. Ref.1

VAR_013229

Natural variant

490

1

R → K in FCAS1. Ref.22
Corresponds to variant rs145268073 [ dbSNP | Ensembl ].

VAR_043689

Natural variant

525

1

F → C in FCAS1. Ref.25

VAR_031853

Natural variant

525

1

F → L in CINCA. Ref.19

VAR_043690

Natural variant

571

1

G → R in MWS. Ref.17

VAR_014107

Natural variant

572

1

Y → C in CINCA. Ref.19 Ref.23

VAR_043691

Natural variant

575

1

F → S in CINCA. Ref.18

VAR_014108

Natural variant

629

1

E → G in FCAS1. Ref.1

VAR_013230

Natural variant

634

1

L → F in CINCA. Ref.23

VAR_043692

Natural variant

664

1

M → T in CINCA. Ref.18

VAR_014370

Natural variant

705

1

Q → K. Ref.20
Corresponds to variant rs35829419 [ dbSNP | Ensembl ].

VAR_043693

Natural variant

861

1

Y → C in CINCA. Ref.21

VAR_023551

Experimental info

Sequence conflict

167

1

R → L in AAL78632. Ref.2

Sequence conflict

167

1

R → L in AAM14669. Ref.2

Sequence conflict

167

1

R → L in AAL14640. Ref.2

Sequence conflict

323

1

Q → H in AAL78632. Ref.2

Sequence conflict

323

1

Q → H in AAM14669. Ref.2

Sequence conflict

323

1

Q → H in AAL14640. Ref.2

Sequence conflict

439

1

T → S in AAC39910. Ref.10

Sequence conflict

523

1

M → V in BAG37494. Ref.5

Sequence conflict

599

1

K → M in AAC39910. Ref.10

Sequence conflict

617

1

K → N in AAL78632. Ref.2

Sequence conflict

617

1

K → N in AAM14669. Ref.2

Sequence conflict

617

1

K → N in AAL14640. Ref.2

Sequence conflict

622 – 623

2

QI → HD in AAC39910. Ref.10

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

1036

Helix Strand Turn

Details...

Helix

6 – 15

10

Helix

19 – 30

12

Beta strand

34 – 37

4

Helix

43 – 48

6

Helix

51 – 62

12

Helix

64 – 77

14

Helix

81 – 89

9

Sequences

	Sequence		Length	Mass (Da)
	Isoform 2 [UniParc]. Last modified November 3, 2009. Version 3. Checksum: 4C1DFB2B5B283CE8	FASTA	1,036	118,173
	10 20 30 40 50 60 MKMASTRCKL ARYLEDLEDV DLKKFKMHLE DYPPQKGCIP LPRGQTEKAD HVDLATLMID 70 80 90 100 110 120 FNGEEKAWAM AVWIFAAINR RDLYEKAKRD EPKWGSDNAR VSNPTVICQE DSIEEEWMGL 130 140 150 160 170 180 LEYLSRISIC KMKKDYRKKY RKYVRSRFQC IEDRNARLGE SVSLNKRYTR LRLIKEHRSQ 190 200 210 220 230 240 QEREQELLAI GKTKTCESPV SPIKMELLFD PDDEHSEPVH TVVFQGAAGI GKTILARKMM 250 260 270 280 290 300 LDWASGTLYQ DRFDYLFYIH CREVSLVTQR SLGDLIMSCC PDPNPPIHKI VRKPSRILFL 310 320 330 340 350 360 MDGFDELQGA FDEHIGPLCT DWQKAERGDI LLSSLIRKKL LPEASLLITT RPVALEKLQH 370 380 390 400 410 420 LLDHPRHVEI LGFSEAKRKE YFFKYFSDEA QARAAFSLIQ ENEVLFTMCF IPLVCWIVCT 430 440 450 460 470 480 GLKQQMESGK SLAQTSKTTT AVYVFFLSSL LQPRGGSQEH GLCAHLWGLC SLAADGIWNQ 490 500 510 520 530 540 KILFEESDLR NHGLQKADVS AFLRMNLFQK EVDCEKFYSF IHMTFQEFFA AMYYLLEEEK 550 560 570 580 590 600 EGRTNVPGSR LKLPSRDVTV LLENYGKFEK GYLIFVVRFL FGLVNQERTS YLEKKLSCKI 610 620 630 640 650 660 SQQIRLELLK WIEVKAKAKK LQIQPSQLEL FYCLYEMQEE DFVQRAMDYF PKIEINLSTR 670 680 690 700 710 720 MDHMVSSFCI ENCHRVESLS LGFLHNMPKE EEEEEKEGRH LDMVQCVLPS SSHAACSHGL 730 740 750 760 770 780 VNSHLTSSFC RGLFSVLSTS QSLTELDLSD NSLGDPGMRV LCETLQHPGC NIRRLWLGRC 790 800 810 820 830 840 GLSHECCFDI SLVLSSNQKL VELDLSDNAL GDFGIRLLCV GLKHLLCNLK KLWLVSCCLT 850 860 870 880 890 900 SACCQDLASV LSTSHSLTRL YVGENALGDS GVAILCEKAK NPQCNLQKLG LVNSGLTSVC 910 920 930 940 950 960 CSALSSVLST NQNLTHLYLR GNTLGDKGIK LLCEGLLHPD CKLQVLELDN CNLTSHCCWD 970 980 990 1000 1010 1020 LSTLLTSSQS LRKLSLGNND LGDLGVMMFC EVLKQQSCLL QNLGLSEMYF NYETKSALET 1030 LQEEKPELTV VFEPSW
	Isoform 1 [UniParc]. Checksum: 8680FA0F4259B6F8	FASTA	922	105,975
	10 20 30 40 50 60 MKMASTRCKL ARYLEDLEDV DLKKFKMHLE DYPPQKGCIP LPRGQTEKAD HVDLATLMID 70 80 90 100 110 120 FNGEEKAWAM AVWIFAAINR RDLYEKAKRD EPKWGSDNAR VSNPTVICQE DSIEEEWMGL 130 140 150 160 170 180 LEYLSRISIC KMKKDYRKKY RKYVRSRFQC IEDRNARLGE SVSLNKRYTR LRLIKEHRSQ 190 200 210 220 230 240 QEREQELLAI GKTKTCESPV SPIKMELLFD PDDEHSEPVH TVVFQGAAGI GKTILARKMM 250 260 270 280 290 300 LDWASGTLYQ DRFDYLFYIH CREVSLVTQR SLGDLIMSCC PDPNPPIHKI VRKPSRILFL 310 320 330 340 350 360 MDGFDELQGA FDEHIGPLCT DWQKAERGDI LLSSLIRKKL LPEASLLITT RPVALEKLQH 370 380 390 400 410 420 LLDHPRHVEI LGFSEAKRKE YFFKYFSDEA QARAAFSLIQ ENEVLFTMCF IPLVCWIVCT 430 440 450 460 470 480 GLKQQMESGK SLAQTSKTTT AVYVFFLSSL LQPRGGSQEH GLCAHLWGLC SLAADGIWNQ 490 500 510 520 530 540 KILFEESDLR NHGLQKADVS AFLRMNLFQK EVDCEKFYSF IHMTFQEFFA AMYYLLEEEK 550 560 570 580 590 600 EGRTNVPGSR LKLPSRDVTV LLENYGKFEK GYLIFVVRFL FGLVNQERTS YLEKKLSCKI 610 620 630 640 650 660 SQQIRLELLK WIEVKAKAKK LQIQPSQLEL FYCLYEMQEE DFVQRAMDYF PKIEINLSTR 670 680 690 700 710 720 MDHMVSSFCI ENCHRVESLS LGFLHNMPKE EEEEEKEGRH LDMVQCVLPS SSHAACSHGL 730 740 750 760 770 780 GRCGLSHECC FDISLVLSSN QKLVELDLSD NALGDFGIRL LCVGLKHLLC NLKKLWLVNS 790 800 810 820 830 840 GLTSVCCSAL SSVLSTNQNL THLYLRGNTL GDKGIKLLCE GLLHPDCKLQ VLELDNCNLT 850 860 870 880 890 900 SHCCWDLSTL LTSSQSLRKL SLGNNDLGDL GVMMFCEVLK QQSCLLQNLG LSEMYFNYET 910 920 KSALETLQEE KPELTVVFEP SW
	Isoform 3 [UniParc]. Checksum: 0BF2090304B74886	FASTA	719	83,533
	10 20 30 40 50 60 MKMASTRCKL ARYLEDLEDV DLKKFKMHLE DYPPQKGCIP LPRGQTEKAD HVDLATLMID 70 80 90 100 110 120 FNGEEKAWAM AVWIFAAINR RDLYEKAKRD EPKWGSDNAR VSNPTVICQE DSIEEEWMGL 130 140 150 160 170 180 LEYLSRISIC KMKKDYRKKY RKYVRSRFQC IEDRNARLGE SVSLNKRYTR LRLIKEHRSQ 190 200 210 220 230 240 QEREQELLAI GKTKTCESPV SPIKMELLFD PDDEHSEPVH TVVFQGAAGI GKTILARKMM 250 260 270 280 290 300 LDWASGTLYQ DRFDYLFYIH CREVSLVTQR SLGDLIMSCC PDPNPPIHKI VRKPSRILFL 310 320 330 340 350 360 MDGFDELQGA FDEHIGPLCT DWQKAERGDI LLSSLIRKKL LPEASLLITT RPVALEKLQH 370 380 390 400 410 420 LLDHPRHVEI LGFSEAKRKE YFFKYFSDEA QARAAFSLIQ ENEVLFTMCF IPLVCWIVCT 430 440 450 460 470 480 GLKQQMESGK SLAQTSKTTT AVYVFFLSSL LQPRGGSQEH GLCAHLWGLC SLAADGIWNQ 490 500 510 520 530 540 KILFEESDLR NHGLQKADVS AFLRMNLFQK EVDCEKFYSF IHMTFQEFFA AMYYLLEEEK 550 560 570 580 590 600 EGRTNVPGSR LKLPSRDVTV LLENYGKFEK GYLIFVVRFL FGLVNQERTS YLEKKLSCKI 610 620 630 640 650 660 SQQIRLELLK WIEVKAKAKK LQIQPSQLEL FYCLYEMQEE DFVQRAMDYF PKIEINLSTR 670 680 690 700 710 MDHMVSSFCI ENCHRVESLS LGFLHNMPKE EEEEEKEGRH LDMVQCVLPS SSHAACSHG
	Isoform 4 [UniParc]. Checksum: DB355ECE3BF0A226	FASTA	979	111,884
	10 20 30 40 50 60 MKMASTRCKL ARYLEDLEDV DLKKFKMHLE DYPPQKGCIP LPRGQTEKAD HVDLATLMID 70 80 90 100 110 120 FNGEEKAWAM AVWIFAAINR RDLYEKAKRD EPKWGSDNAR VSNPTVICQE DSIEEEWMGL 130 140 150 160 170 180 LEYLSRISIC KMKKDYRKKY RKYVRSRFQC IEDRNARLGE SVSLNKRYTR LRLIKEHRSQ 190 200 210 220 230 240 QEREQELLAI GKTKTCESPV SPIKMELLFD PDDEHSEPVH TVVFQGAAGI GKTILARKMM 250 260 270 280 290 300 LDWASGTLYQ DRFDYLFYIH CREVSLVTQR SLGDLIMSCC PDPNPPIHKI VRKPSRILFL 310 320 330 340 350 360 MDGFDELQGA FDEHIGPLCT DWQKAERGDI LLSSLIRKKL LPEASLLITT RPVALEKLQH 370 380 390 400 410 420 LLDHPRHVEI LGFSEAKRKE YFFKYFSDEA QARAAFSLIQ ENEVLFTMCF IPLVCWIVCT 430 440 450 460 470 480 GLKQQMESGK SLAQTSKTTT AVYVFFLSSL LQPRGGSQEH GLCAHLWGLC SLAADGIWNQ 490 500 510 520 530 540 KILFEESDLR NHGLQKADVS AFLRMNLFQK EVDCEKFYSF IHMTFQEFFA AMYYLLEEEK 550 560 570 580 590 600 EGRTNVPGSR LKLPSRDVTV LLENYGKFEK GYLIFVVRFL FGLVNQERTS YLEKKLSCKI 610 620 630 640 650 660 SQQIRLELLK WIEVKAKAKK LQIQPSQLEL FYCLYEMQEE DFVQRAMDYF PKIEINLSTR 670 680 690 700 710 720 MDHMVSSFCI ENCHRVESLS LGFLHNMPKE EEEEEKEGRH LDMVQCVLPS SSHAACSHGL 730 740 750 760 770 780 GRCGLSHECC FDISLVLSSN QKLVELDLSD NALGDFGIRL LCVGLKHLLC NLKKLWLVSC 790 800 810 820 830 840 CLTSACCQDL ASVLSTSHSL TRLYVGENAL GDSGVAILCE KAKNPQCNLQ KLGLVNSGLT 850 860 870 880 890 900 SVCCSALSSV LSTNQNLTHL YLRGNTLGDK GIKLLCEGLL HPDCKLQVLE LDNCNLTSHC 910 920 930 940 950 960 CWDLSTLLTS SQSLRKLSLG NNDLGDLGVM MFCEVLKQQS CLLQNLGLSE MYFNYETKSA 970 LETLQEEKPE LTVVFEPSW
	Isoform 5 [UniParc]. Checksum: 8E46F79B1A816B5E	FASTA	979	112,263
	10 20 30 40 50 60 MKMASTRCKL ARYLEDLEDV DLKKFKMHLE DYPPQKGCIP LPRGQTEKAD HVDLATLMID 70 80 90 100 110 120 FNGEEKAWAM AVWIFAAINR RDLYEKAKRD EPKWGSDNAR VSNPTVICQE DSIEEEWMGL 130 140 150 160 170 180 LEYLSRISIC KMKKDYRKKY RKYVRSRFQC IEDRNARLGE SVSLNKRYTR LRLIKEHRSQ 190 200 210 220 230 240 QEREQELLAI GKTKTCESPV SPIKMELLFD PDDEHSEPVH TVVFQGAAGI GKTILARKMM 250 260 270 280 290 300 LDWASGTLYQ DRFDYLFYIH CREVSLVTQR SLGDLIMSCC PDPNPPIHKI VRKPSRILFL 310 320 330 340 350 360 MDGFDELQGA FDEHIGPLCT DWQKAERGDI LLSSLIRKKL LPEASLLITT RPVALEKLQH 370 380 390 400 410 420 LLDHPRHVEI LGFSEAKRKE YFFKYFSDEA QARAAFSLIQ ENEVLFTMCF IPLVCWIVCT 430 440 450 460 470 480 GLKQQMESGK SLAQTSKTTT AVYVFFLSSL LQPRGGSQEH GLCAHLWGLC SLAADGIWNQ 490 500 510 520 530 540 KILFEESDLR NHGLQKADVS AFLRMNLFQK EVDCEKFYSF IHMTFQEFFA AMYYLLEEEK 550 560 570 580 590 600 EGRTNVPGSR LKLPSRDVTV LLENYGKFEK GYLIFVVRFL FGLVNQERTS YLEKKLSCKI 610 620 630 640 650 660 SQQIRLELLK WIEVKAKAKK LQIQPSQLEL FYCLYEMQEE DFVQRAMDYF PKIEINLSTR 670 680 690 700 710 720 MDHMVSSFCI ENCHRVESLS LGFLHNMPKE EEEEEKEGRH LDMVQCVLPS SSHAACSHGL 730 740 750 760 770 780 VNSHLTSSFC RGLFSVLSTS QSLTELDLSD NSLGDPGMRV LCETLQHPGC NIRRLWLGRC 790 800 810 820 830 840 GLSHECCFDI SLVLSSNQKL VELDLSDNAL GDFGIRLLCV GLKHLLCNLK KLWLVNSGLT 850 860 870 880 890 900 SVCCSALSSV LSTNQNLTHL YLRGNTLGDK GIKLLCEGLL HPDCKLQVLE LDNCNLTSHC 910 920 930 940 950 960 CWDLSTLLTS SQSLRKLSLG NNDLGDLGVM MFCEVLKQQS CLLQNLGLSE MYFNYETKSA 970 LETLQEEKPE LTVVFEPSW
	Isoform 6 [UniParc]. Checksum: CE6980B309C3322D	FASTA	1,016	115,968
	10 20 30 40 50 60 MKMASTRCKL ARYLEDLEDV DLKKFKMHLE DYPPQKGCIP LPRGQTEKAD HVDLATLMID 70 80 90 100 110 120 FNGEEKAWAM AVWIFAAINR RDLYEKAKRD EPKWGSDNAR VSNPTVICQE DSIEEEWMGL 130 140 150 160 170 180 LEYLSRISIC KMKKDYRKKY RKYVRSRFQC IEDRNARLGE SVSLNKRYTR LRLIKEHRSQ 190 200 210 220 230 240 QEREQELLAI GKTKTCESPV SPIKMELLFD PDDEHSEPVH TVVFQGAAGI GKTILARKMM 250 260 270 280 290 300 LDWASGTLYQ DRFDYLFYIH CREVSLVTQR SLGDLIMSCC PDPNPPIHKI VRKPSRILFL 310 320 330 340 350 360 MDGFDELQGA FDEHIGPLCT DWQKAERGDI LLSSLIRKKL LPEASLLITT RPVALEKLQH 370 380 390 400 410 420 LLDHPRHVEI LGFSEAKRKE YFFKYFSDEA QARAAFSLIQ ENEVLFTMCF IPLVCWIVCT 430 440 450 460 470 480 GLKQQMESGK SLAQTSKTTT AVYVFFLSSL LQPRGGSQEH GLCAHLWGLC SLAADGIWNQ 490 500 510 520 530 540 KILFEESDLR NHGLQKADVS AFLRMNLFQK EVDCEKFYSF IHMTFQEFFA AMYYLLEEEK 550 560 570 580 590 600 EGRTNVPGSR LKLPSRDVTV LLENYGKFEK GYLIFVVRFL FGLVNQERTS YLEKKLSCKI 610 620 630 640 650 660 SQQIRLELLK WIEVKAKAKK LQIQPSQLEL FYCLYEMQEE DFVQRAMDYF PKIEINLSTR 670 680 690 700 710 720 MDHMVSSFCI ENCHRVESLS LGFLHNMPKE EEEEEKEGRH LDMVQCVLPS SSHAACSHGL 730 740 750 760 770 780 VNSHLTSSFC RGLFSVLSTS QSLTELDLSD NSLGDPGMRV LCETLQHPGC NIRRLCNQKL 790 800 810 820 830 840 VELDLSDNAL GDFGIRLLCV GLKHLLCNLK KLWLVSCCLT SACCQDLASV LSTSHSLTRL 850 860 870 880 890 900 YVGENALGDS GVAILCEKAK NPQCNLQKLG LVNSGLTSVC CSALSSVLST NQNLTHLYLR 910 920 930 940 950 960 GNTLGDKGIK LLCEGLLHPD CKLQVLELDN CNLTSHCCWD LSTLLTSSQS LRKLSLGNND 970 980 990 1000 1010 LGDLGVMMFC EVLKQQSCLL QNLGLSEMYF NYETKSALET LQEEKPELTV VFEPSW

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome." Hoffman H.M., Mueller J.L., Broide D.H., Wanderer A.A., Kolodner R.D. Nat. Genet. 29:301-305(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), VARIANTS FCAS1 MET-200; VAL-441 AND GLY-629, VARIANT MWS VAL-354.
[2]	"Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis." Aganna E., Martinon F., Hawkins P.N., Ross J.B., Swan D.C., Booth D.R., Lachmann H.J., Gaudet R., Woo P., Feighery C., Cotter F.E., Thome M., Hitman G.A., Tschopp J., McDermott M.F. Arthritis Rheum. 46:2445-2452(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), VARIANT MWS MET-200, VARIANTS FCAS1/MWS TRP-262 AND PRO-307.
[3]	"PYPAF1: a PYRIN-containing APAF1-like protein that assembles with ASC and activates NF-kB." Manji G.A., Wang L., Geddes B.J., Brown M., Merriam S., Al-Garawi A., Mak S., Lora J.M., Briskin M., Jurman M., Cao J., DiStefano P.S., Bertin J. J. Biol. Chem. 277:11570-11575(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, INTERACTION WITH PYCARD/ASC, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[4]	"CIAS1/cryopyrin/PYPAF1/NALP3/CATERPILLER 1.1 is an inducible inflammatory mediator with NF-kappa B suppressive properties." O'Connor W. Jr., Harton J.A., Zhu X., Linhoff M.W., Ting J.-P. J. Immunol. 171:6329-6333(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 4), FUNCTION, SUBCELLULAR LOCATION, INDUCTION BY TNF.
[5]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[6]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). Tissue: Brain.
[7]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 4 AND 6). Tissue: Colon.
[10]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 393-1036 (ISOFORM 1). Tissue: Umbilical cord blood.
[11]	"NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder." Agostini L., Martinon F., Burns K., McDermott M.F., Hawkins P.N., Tschopp J. Immunity 20:319-325(2004) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN NALP3 INFLAMMASOME COMPLEX.
[12]	"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] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[13]	"Osteoblasts express NLRP3, a nucleotide-binding domain and leucine-rich repeat region containing receptor implicated in bacterially induced cell death." McCall S.H., Sahraei M., Young A.B., Worley C.S., Duncan J.A., Ting J.P., Marriott I. J. Bone Miner. Res. 23:30-40(2008) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[14]	"Novel role of PKR in inflammasome activation and HMGB1 release." Lu B., Nakamura T., Inouye K., Li J., Tang Y., Lundbaeck P., Valdes-Ferrer S.I., Olofsson P.S., Kalb T., Roth J., Zou Y., Erlandsson-Harris H., Yang H., Ting J.P., Wang H., Andersson U., Antoine D.J., Chavan S.S., Hotamisligil G.S., Tracey K.J. Nature 488:670-674(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH EIF2AK2.
[15]	"Selective inhibition of the NLRP3 inflammasome by targeting to promyelocytic leukemia protein in mouse and human." Lo Y.H., Huang Y.W., Wu Y.H., Tsai C.S., Lin Y.C., Mo S.T., Kuo W.C., Chuang Y.T., Jiang S.T., Shih H.M., Lai M.Z. Blood 121:3185-3194(2013) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PML.
[16]	"Crystal structure of NALP3 protein pyrin domain (PYD) and its implications in inflammasome assembly." Bae J.Y., Park H.H. J. Biol. Chem. 286:39528-39536(2011) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 3-112, SUBUNIT, DISULFIDE BOND.
[17]	"New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes." Dode C., Le Du N., Cuisset L., Letourneur F., Berthelot J.-M., Vaudour G., Meyrier A., Watts R.A., Scott D.G.I., Nicholls A., Granel B., Frances C., Garcier F., Edery P., Boulinguez S., Domergues J.-P., Delpech M., Grateau G. Am. J. Hum. Genet. 70:1498-1506(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FCAS1 MET-200, VARIANTS MWS ASN-305; MET-350; THR-441 AND ARG-571, VARIANT FCAS/MWS TRP-262.
[18]	"Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes." Feldmann J., Prieur A.-M., Quartier P., Berquin P., Certain S., Cortis E., Teillac-Hamel D., Fischer A., de Saint Basile G. Am. J. Hum. Genet. 71:198-203(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CINCA ASN-305; LEU-308; SER-311; ARG-360; ASN-438; SER-575 AND THR-664, TISSUE SPECIFICITY.
[19]	"De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases." Aksentijevich I., Nowak M., Mallah M., Chae J.J., Watford W.T., Hofmann S.R., Stein L., Russo R., Goldsmith D., Dent P., Rosenberg H.F., Austin F., Remmers E.F., Balow J.E. Jr., Rosenzweig S., Komarow H., Shoham N.G., Wood G. , Jones J., Mangra N., Carrero H., Adams B.S., Moore T.L., Schikler K., Hoffman H., Lovell D.J., Lipnick R., Barron K., O'Shea J.J., Kastner D.L., Goldbach-Mansky R. Arthritis Rheum. 46:3340-3348(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CINCA HIS-266; ASN-305; LEU-525 AND CYS-572.
[20]	"Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P." Hoffman H.M., Gregory S.G., Mueller J.L., Tresierras M., Broide D.H., Wanderer A.A., Kolodner R.D. Hum. Genet. 112:209-216(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FCAS1 PRO-355, VARIANT LYS-705.
[21]	"Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1." Frenkel J., van Kempen M.J., Kuis W., van Amstel H.K. Arthritis Rheum. 50:2719-2720(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CINCA CYS-861.
[22]	"Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene." Arostegui J.I., Aldea A., Modesto C., Rua M.J., Argueelles F., Gonzalez-Ensenat M.A., Ramos E., Rius J., Plaza S., Vives J., Yaguee J. Arthritis Rheum. 50:4045-4050(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FCAS1 MET-200; PRO-307 AND LYS-490, VARIANT CINCA ASN-305, VARIANT MWS MET-350.
[23]	"Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU." Neven B., Callebaut I., Prieur A.-M., Feldmann J., Bodemer C., Lepore L., Derfalvi B., Benjaponpitak S., Vesely R., Sauvain M.J., Oertle S., Allen R., Morgan G., Borkhardt A., Hill C., Gardner-Medwin J., Fischer A., de Saint Basile G. Blood 103:2809-2815(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CINCA LEU-262; PRO-262; ASN-305; GLY-305; SER-311; MET-350; ASP-356; PRO-407; ILE-438; CYS-572 AND PHE-634.
[24]	"A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy." Stojanov S., Weiss M., Lohse P., Belohradsky B.H. Pediatrics 114:E124-E127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CINCA THR-174.
[25]	"A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin." Shalev S.A., Sprecher E., Indelman M., Hujirat Y., Bergman R., Rottem M. Int. Arch. Allergy Immunol. 143:190-193(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FCAS1 CYS-525.
+	Additional computationally mapped references.

Web resources

INFEVERS

Repertory of FMF and hereditary autoinflammatory disorders mutations

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF410477 mRNA. Translation: AAL33908.1. Different initiation.
AF427617 mRNA. Translation: AAL33911.1.
AY051117 , AY051112, AY051113, AY051114, AY051115, AY051116, AY056059, AY056060 Genomic DNA. Translation: AAL12497.1. Different initiation.
AY051117 , AY051112, AY051113, AY051114, AY051115, AY051116 Genomic DNA. Translation: AAL12498.1. Different initiation.
AF468522 mRNA. Translation: AAL78632.1.
AF420469 mRNA. Translation: AAL65136.1. Different initiation.
AY092033 mRNA. Translation: AAM14669.1.
AF418985 mRNA. Translation: AAL14640.2.
AY422168 mRNA. Translation: AAQ98889.1. Different initiation.
AK314998 mRNA. Translation: BAG37494.1. Different initiation.
AB208891 mRNA. Translation: BAD92128.1. Different initiation.
AL606804, AC104335 Genomic DNA. Translation: CAI17153.1.
AL606804, AC104335 Genomic DNA. Translation: CAI17154.1.
AL606804, AC104335 Genomic DNA. Translation: CAI17155.1. Different initiation.
CH471148 Genomic DNA. Translation: EAW77184.1.
BC117211 mRNA. Translation: AAI17212.1.
BC143359 mRNA. Translation: AAI43360.1.
BC143362 mRNA. Translation: AAI43363.1.
BC143363 mRNA. Translation: AAI43364.1.
AF054176 mRNA. Translation: AAC39910.1. Frameshift.

RefSeq

NP_001073289.1. NM_001079821.2.
NP_001120933.1. NM_001127461.2.
NP_001120934.1. NM_001127462.2.
NP_001230062.1. NM_001243133.1.
NP_004886.3. NM_004895.4.
NP_899632.1. NM_183395.2.
XP_005273093.1. XM_005273036.1.
XP_005273094.1. XM_005273037.1.
XP_005273095.1. XM_005273038.1.

UniGene

Hs.159483.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3QF2	X-ray	1.70	A/B	3-112	[»]

ProteinModelPortal

Q96P20.

SMR

Q96P20. Positions 5-110, 218-243, 724-1031.

ModBase

Search...

MobiDB

Search...

Protein-protein interaction databases

BioGrid

125319. 4 interactions.

DIP

DIP-41153N.

IntAct

Q96P20. 3 interactions.

MINT

MINT-230535.

Chemistry

ChEMBL

CHEMBL1741208.

PTM databases

PhosphoSite

Q96P20.

Polymorphism databases

DMDM

262527566.

Proteomic databases

PaxDb

Q96P20.

PRIDE

Q96P20.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000336119; ENSP00000337383; ENSG00000162711.
ENST00000348069; ENSP00000294752; ENSG00000162711.
ENST00000366496; ENSP00000355452; ENSG00000162711.
ENST00000366497; ENSP00000355453; ENSG00000162711.
ENST00000391827; ENSP00000375703; ENSG00000162711.
ENST00000391828; ENSP00000375704; ENSG00000162711.

GeneID

114548.

KEGG

hsa:114548.

UCSC

uc001icr.3. human.

Organism-specific databases

CTD

114548.

GeneCards

GC01P247579.

HGNC

HGNC:16400. NLRP3.

HPA

CAB009190.
HPA012878.
HPA017374.

MIM

120100. phenotype.
191900. phenotype.
606416. gene.
607115. phenotype.

neXtProt

NX_Q96P20.

Orphanet

93365. CINCA syndrome with CIAS1 mutations.
47045. Familial cold urticaria.
575. Muckle-Wells syndrome.

PharmGKB

PA26512.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG82860.

HOVERGEN

HBG063656.

InParanoid

Q96P20.

KO

K12800.

OMA

QRAMDYF.

OrthoDB

EOG7P5T07.

PhylomeDB

Q96P20.

TreeFam

TF340267.

Enzyme and pathway databases

Reactome

REACT_6900. Immune System.

Gene expression databases

ArrayExpress

Q96P20.

Bgee

Q96P20.

Genevestigator

Q96P20.

Family and domain databases

Gene3D

1.10.533.10. 1 hit.

InterPro

IPR004020. DAPIN.
IPR011029. DEATH-like_dom.
IPR003590. Leu-rich_rpt_RNase_inh_sub-typ.
IPR007111. NACHT_NTPase.
IPR027417. P-loop_NTPase.
[Graphical view]

Pfam

PF02758. PYRIN. 1 hit.
[Graphical view]

SMART

SM00368. LRR_RI. 3 hits.
[Graphical view]

SUPFAM

SSF47986. SSF47986. 1 hit.
SSF52540. SSF52540. 2 hits.

PROSITE

PS50824. DAPIN. 1 hit.
PS50837. NACHT. 1 hit.
[Graphical view]

ProtoNet

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Other

GeneWiki

NALP3.

GenomeRNAi

114548.

NextBio

79079.

PRO

Q96P20.

SOURCE

Search...

Entry information

Entry name

NALP3_HUMAN

Accession

Primary (citable) accession number: Q96P20
Secondary accession number(s): B2RC97 , B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 2, 2002
Last sequence update:	November 3, 2009
Last modified:	February 19, 2014
This is version 141 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.