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Q96P20

- NALP3_HUMAN

UniProt

Q96P20 - NALP3_HUMAN

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Protein

NACHT, LRR and PYD domains-containing protein 3

Gene

NLRP3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Display
All None

  • Function
  • Names & Taxonomy
  • Subcellular locationSubcell. location
  • Pathology & BiotechPathol./Biotech
  • PTM / Processing
  • Expression
  • Interaction
  • Structure
  • Family & Domains
  • Sequences (6)
  • Cross-references
  • Publications
  • Entry information
  • Miscellaneous
  • Similar proteins
Top

Functioni

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 IL18.2 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi226 – 2338ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. peptidoglycan binding Source: HGNC

GO - Biological processi

  1. activation of cysteine-type endopeptidase activity involved in apoptotic process Source: Ensembl
  2. apoptotic process Source: UniProtKB
  3. cellular response to lipopolysaccharide Source: BHF-UCL
  4. defense response Source: HGNC
  5. defense response to virus Source: Ensembl
  6. detection of biotic stimulus Source: HGNC
  7. inflammatory response Source: UniProtKB
  8. innate immune response Source: Reactome
  9. interleukin-18 production Source: Ensembl
  10. interleukin-1 beta production Source: Ensembl
  11. interleukin-1 secretion Source: Ensembl
  12. negative regulation of acute inflammatory response Source: BHF-UCL
  13. negative regulation of inflammatory response Source: BHF-UCL
  14. negative regulation of interleukin-1 beta secretion Source: BHF-UCL
  15. negative regulation of NF-kappaB import into nucleus Source: HGNC
  16. negative regulation of NF-kappaB transcription factor activity Source: HGNC
  17. NLRP3 inflammasome complex assembly Source: Ensembl
  18. nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway Source: Reactome
  19. positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: HGNC
  20. positive regulation of interleukin-1 beta secretion Source: HGNC
  21. positive regulation of NF-kappaB transcription factor activity Source: UniProtKB
  22. protein oligomerization Source: HGNC
  23. signal transduction Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Apoptosis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_75808. The NLRP3 inflammasome.

Names & Taxonomyi

Protein namesi
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 namesi
Name:NLRP3
Synonyms:C1orf7, CIAS1, NALP3, PYPAF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:16400. NLRP3.

Subcellular locationi

Cytoplasm 3 Publications

GO - Cellular componenti

  1. cytoplasm Source: BHF-UCL
  2. cytosol Source: Reactome
  3. NLRP3 inflammasome complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti200 – 2001V → M in FCAS1 and MWS. 4 Publications
Corresponds to variant rs121908147 [ dbSNP | Ensembl ].		VAR_013227
Natural varianti262 – 2621R → W in FCAS1 and MWS. 2 Publications
VAR_014104
Natural varianti307 – 3071L → P in FCAS1 and MWS. 2 Publications
VAR_014124
Natural varianti355 – 3551L → P in FCAS1. 1 Publication
Corresponds to variant rs28937896 [ dbSNP | Ensembl ].		VAR_043685
Natural varianti441 – 4411A → V in FCAS1. 1 Publication
VAR_013229
Natural varianti490 – 4901R → K in FCAS1. 1 Publication
Corresponds to variant rs145268073 [ dbSNP | Ensembl ].		VAR_043689
Natural varianti525 – 5251F → C in FCAS1. 1 Publication
VAR_031853
Natural varianti629 – 6291E → G in FCAS1. 1 Publication
VAR_013230
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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti200 – 2001V → M in FCAS1 and MWS. 4 Publications
Corresponds to variant rs121908147 [ dbSNP | Ensembl ].		VAR_013227
Natural varianti262 – 2621R → W in FCAS1 and MWS. 2 Publications
VAR_014104
Natural varianti305 – 3051D → N in CINCA and MWS. 5 Publications
VAR_014105
Natural varianti307 – 3071L → P in FCAS1 and MWS. 2 Publications
VAR_014124
Natural varianti350 – 3501T → M in MWS and CINCA. 3 Publications
VAR_014366
Natural varianti354 – 3541A → V in MWS. 1 Publication
VAR_013228
Natural varianti441 – 4411A → T in MWS. 1 Publication
VAR_014369
Natural varianti571 – 5711G → R in MWS. 1 Publication
VAR_014107
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.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti174 – 1741I → T in CINCA. 1 Publication
VAR_043679
Natural varianti262 – 2621R → L in CINCA. 1 Publication
VAR_043680
Natural varianti262 – 2621R → P in CINCA. 1 Publication
VAR_043681
Natural varianti266 – 2661L → H in CINCA. 1 Publication
VAR_043682
Natural varianti305 – 3051D → G in CINCA. 1 Publication
VAR_043683
Natural varianti305 – 3051D → N in CINCA and MWS. 5 Publications
VAR_014105
Natural varianti308 – 3081Q → L in CINCA. 1 Publication
VAR_043684
Natural varianti311 – 3111F → S in CINCA. 2 Publications
VAR_014106
Natural varianti350 – 3501T → M in MWS and CINCA. 3 Publications
VAR_014366
Natural varianti356 – 3561E → D in CINCA. 1 Publication
VAR_043686
Natural varianti360 – 3601H → R in CINCA. 1 Publication
VAR_014367
Natural varianti407 – 4071T → P in CINCA. 1 Publication
VAR_043687
Natural varianti438 – 4381T → I in CINCA. 1 Publication
VAR_043688
Natural varianti438 – 4381T → N in CINCA. 1 Publication
VAR_014368
Natural varianti525 – 5251F → L in CINCA. 1 Publication
VAR_043690
Natural varianti572 – 5721Y → C in CINCA. 2 Publications
VAR_043691
Natural varianti575 – 5751F → S in CINCA. 1 Publication
VAR_014108
Natural varianti634 – 6341L → F in CINCA. 1 Publication
VAR_043692
Natural varianti664 – 6641M → T in CINCA. 1 Publication
VAR_014370
Natural varianti861 – 8611Y → C in CINCA. 1 Publication
VAR_023551

Keywords - Diseasei

Amyloidosis, Deafness, Disease mutation

Organism-specific databases

MIMi120100. phenotype.
191900. phenotype.
607115. phenotype.
Orphaneti93365. CINCA syndrome with NLRP3 mutations.
47045. Familial cold urticaria.
575. Muckle-Wells syndrome.
PharmGKBiPA26512.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10361036NACHT, LRR and PYD domains-containing protein 3PRO_0000080886Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi8 ↔ 108Redox-active1 Publication

Post-translational modificationi

The disulfide bond in the DAPIN domain may play a role in inflammation activation by reactive oxygen species.

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ96P20.
PRIDEiQ96P20.

PTM databases

PhosphoSiteiQ96P20.

Expressioni

Tissue specificityi

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.4 Publications

Inductioni

By TNF.1 Publication

Gene expression databases

BgeeiQ96P20.
ExpressionAtlasiQ96P20. baseline and differential.
GenevestigatoriQ96P20.

Organism-specific databases

HPAiCAB009190.
HPA012878.
HPA017374.

Interactioni

Subunit structurei

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 PYCARD/ASC, PML (isoform PML-1), EIF2AK2/PKR and MEFV.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MAVSQ7Z4344EBI-6253230,EBI-995373
PYCARDQ9ULZ34EBI-6253230,EBI-751215

Protein-protein interaction databases

BioGridi125319. 5 interactions.
DIPiDIP-41153N.
IntActiQ96P20. 3 interactions.
MINTiMINT-230535.

Structurei

Secondary structure

1
1036
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi6 – 1510Combined sources
Helixi19 – 3012Combined sources
Beta strandi34 – 374Combined sources
Helixi43 – 486Combined sources
Helixi51 – 6212Combined sources
Helixi64 – 7714Combined sources
Helixi81 – 899Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3QF2X-ray1.70A/B3-112[»]
ProteinModelPortaliQ96P20.
SMRiQ96P20. Positions 5-110.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 9393DAPINPROSITE-ProRule annotationAdd
BLAST
Domaini220 – 536317NACHTPROSITE-ProRule annotationAdd
BLAST
Repeati742 – 76221LRR 1Add
BLAST
Repeati771 – 79222LRR 2Add
BLAST
Repeati799 – 81921LRR 3Add
BLAST
Repeati828 – 84922LRR 4Add
BLAST
Repeati856 – 87621LRR 5Add
BLAST
Repeati885 – 90622LRR 6Add
BLAST
Repeati913 – 93321LRR 7Add
BLAST
Repeati942 – 96322LRR 8Add
BLAST
Repeati970 – 99122LRR 9Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi690 – 6978Poly-Glu

Sequence similaritiesi

Belongs to the NLRP family.Curated
Contains 1 DAPIN domain.PROSITE-ProRule annotation
Contains 9 LRR (leucine-rich) repeats.Curated
Contains 1 NACHT domain.PROSITE-ProRule annotation

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiNOG82860.
GeneTreeiENSGT00770000120466.
HOVERGENiHBG063656.
InParanoidiQ96P20.
KOiK12800.
OMAiHLTSSFC.
OrthoDBiEOG7P5T07.
PhylomeDBiQ96P20.
TreeFamiTF340267.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
InterProiIPR004020. DAPIN.
IPR011029. DEATH-like_dom.
IPR003590. Leu-rich_rpt_RNase_inh_sub-typ.
IPR007111. NACHT_NTPase.
IPR029495. NATCH-assoc.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF14484. FISNA. 1 hit.
PF02758. PYRIN. 1 hit.
[Graphical view]
SMARTiSM00368. LRR_RI. 3 hits.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEiPS50824. DAPIN. 1 hit.
PS50837. NACHT. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. Align

Isoform 2 (identifier: Q96P20-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MKMASTRCKL ARYLEDLEDV DLKKFKMHLE DYPPQKGCIP LPRGQTEKAD 
        60         70         80         90        100
HVDLATLMID FNGEEKAWAM AVWIFAAINR RDLYEKAKRD EPKWGSDNAR 
       110        120        130        140        150
VSNPTVICQE DSIEEEWMGL LEYLSRISIC KMKKDYRKKY RKYVRSRFQC 
       160        170        180        190        200
IEDRNARLGE SVSLNKRYTR LRLIKEHRSQ QEREQELLAI GKTKTCESPV 
       210        220        230        240        250
SPIKMELLFD PDDEHSEPVH TVVFQGAAGI GKTILARKMM LDWASGTLYQ 
       260        270        280        290        300
DRFDYLFYIH CREVSLVTQR SLGDLIMSCC PDPNPPIHKI VRKPSRILFL 
       310        320        330        340        350
MDGFDELQGA FDEHIGPLCT DWQKAERGDI LLSSLIRKKL LPEASLLITT 
       360        370        380        390        400
RPVALEKLQH LLDHPRHVEI LGFSEAKRKE YFFKYFSDEA QARAAFSLIQ 
       410        420        430        440        450
ENEVLFTMCF IPLVCWIVCT GLKQQMESGK SLAQTSKTTT AVYVFFLSSL 
       460        470        480        490        500
LQPRGGSQEH GLCAHLWGLC SLAADGIWNQ KILFEESDLR NHGLQKADVS 
       510        520        530        540        550
AFLRMNLFQK EVDCEKFYSF IHMTFQEFFA AMYYLLEEEK EGRTNVPGSR 
       560        570        580        590        600
LKLPSRDVTV LLENYGKFEK GYLIFVVRFL FGLVNQERTS YLEKKLSCKI 
       610        620        630        640        650
SQQIRLELLK WIEVKAKAKK LQIQPSQLEL FYCLYEMQEE DFVQRAMDYF 
       660        670        680        690        700
PKIEINLSTR MDHMVSSFCI ENCHRVESLS LGFLHNMPKE EEEEEKEGRH 
       710        720        730        740        750
LDMVQCVLPS SSHAACSHGL VNSHLTSSFC RGLFSVLSTS QSLTELDLSD 
       760        770        780        790        800
NSLGDPGMRV LCETLQHPGC NIRRLWLGRC GLSHECCFDI SLVLSSNQKL 
       810        820        830        840        850
VELDLSDNAL GDFGIRLLCV GLKHLLCNLK KLWLVSCCLT SACCQDLASV 
       860        870        880        890        900
LSTSHSLTRL YVGENALGDS GVAILCEKAK NPQCNLQKLG LVNSGLTSVC 
       910        920        930        940        950
CSALSSVLST NQNLTHLYLR GNTLGDKGIK LLCEGLLHPD CKLQVLELDN 
       960        970        980        990       1000
CNLTSHCCWD LSTLLTSSQS LRKLSLGNND LGDLGVMMFC EVLKQQSCLL 
      1010       1020       1030 
QNLGLSEMYF NYETKSALET LQEEKPELTV VFEPSW
Length:1,036
Mass (Da):118,173
Last modified:November 3, 2009 - v3
Checksum:i4C1DFB2B5B283CE8
GO
Isoform 1 (identifier: Q96P20-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:922
Mass (Da):105,975
Checksum:i8680FA0F4259B6F8
GO
Isoform 3 (identifier: Q96P20-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:719
Mass (Da):83,533
Checksum:i0BF2090304B74886
GO
Isoform 4 (identifier: Q96P20-4) [UniParc]FASTAAdd to Basket

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

Show »
Length:979
Mass (Da):111,884
Checksum:iDB355ECE3BF0A226
GO
Isoform 5 (identifier: Q96P20-5) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:979
Mass (Da):112,263
Checksum:i8E46F79B1A816B5E
GO
Isoform 6 (identifier: Q96P20-6) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:1,016
Mass (Da):115,968
Checksum:iCE6980B309C3322D
GO

Sequence cautioni

The sequence AAC39910.1 differs from that shown. Reason: Frameshift at positions 893, 918 and 926. Curated
The sequence AAL12497.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAL12498.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAL33908.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAL65136.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAQ98889.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAD92128.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG37494.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI17155.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti167 – 1671R → L in AAL78632. (PubMed:12355493)Curated
Sequence conflicti167 – 1671R → L in AAM14669. (PubMed:12355493)Curated
Sequence conflicti167 – 1671R → L in AAL14640. (PubMed:12355493)Curated
Sequence conflicti323 – 3231Q → H in AAL78632. (PubMed:12355493)Curated
Sequence conflicti323 – 3231Q → H in AAM14669. (PubMed:12355493)Curated
Sequence conflicti323 – 3231Q → H in AAL14640. (PubMed:12355493)Curated
Sequence conflicti439 – 4391T → S in AAC39910. (PubMed:11042152)Curated
Sequence conflicti523 – 5231M → V in BAG37494. (PubMed:14702039)Curated
Sequence conflicti599 – 5991K → M in AAC39910. (PubMed:11042152)Curated
Sequence conflicti617 – 6171K → N in AAL78632. (PubMed:12355493)Curated
Sequence conflicti617 – 6171K → N in AAM14669. (PubMed:12355493)Curated
Sequence conflicti617 – 6171K → N in AAL14640. (PubMed:12355493)Curated
Sequence conflicti622 – 6232QI → HD in AAC39910. (PubMed:11042152)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti174 – 1741I → T in CINCA. 1 Publication
VAR_043679
Natural varianti200 – 2001V → M in FCAS1 and MWS. 4 Publications
Corresponds to variant rs121908147 [ dbSNP | Ensembl ].		VAR_013227
Natural varianti262 – 2621R → L in CINCA. 1 Publication
VAR_043680
Natural varianti262 – 2621R → P in CINCA. 1 Publication
VAR_043681
Natural varianti262 – 2621R → W in FCAS1 and MWS. 2 Publications
VAR_014104
Natural varianti266 – 2661L → H in CINCA. 1 Publication
VAR_043682
Natural varianti305 – 3051D → G in CINCA. 1 Publication
VAR_043683
Natural varianti305 – 3051D → N in CINCA and MWS. 5 Publications
VAR_014105
Natural varianti307 – 3071L → P in FCAS1 and MWS. 2 Publications
VAR_014124
Natural varianti308 – 3081Q → L in CINCA. 1 Publication
VAR_043684
Natural varianti311 – 3111F → S in CINCA. 2 Publications
VAR_014106
Natural varianti350 – 3501T → M in MWS and CINCA. 3 Publications
VAR_014366
Natural varianti354 – 3541A → V in MWS. 1 Publication
VAR_013228
Natural varianti355 – 3551L → P in FCAS1. 1 Publication
Corresponds to variant rs28937896 [ dbSNP | Ensembl ].		VAR_043685
Natural varianti356 – 3561E → D in CINCA. 1 Publication
VAR_043686
Natural varianti360 – 3601H → R in CINCA. 1 Publication
VAR_014367
Natural varianti407 – 4071T → P in CINCA. 1 Publication
VAR_043687
Natural varianti438 – 4381T → I in CINCA. 1 Publication
VAR_043688
Natural varianti438 – 4381T → N in CINCA. 1 Publication
VAR_014368
Natural varianti441 – 4411A → T in MWS. 1 Publication
VAR_014369
Natural varianti441 – 4411A → V in FCAS1. 1 Publication
VAR_013229
Natural varianti490 – 4901R → K in FCAS1. 1 Publication
Corresponds to variant rs145268073 [ dbSNP | Ensembl ].		VAR_043689
Natural varianti525 – 5251F → C in FCAS1. 1 Publication
VAR_031853
Natural varianti525 – 5251F → L in CINCA. 1 Publication
VAR_043690
Natural varianti571 – 5711G → R in MWS. 1 Publication
VAR_014107
Natural varianti572 – 5721Y → C in CINCA. 2 Publications
VAR_043691
Natural varianti575 – 5751F → S in CINCA. 1 Publication
VAR_014108
Natural varianti629 – 6291E → G in FCAS1. 1 Publication
VAR_013230
Natural varianti634 – 6341L → F in CINCA. 1 Publication
VAR_043692
Natural varianti664 – 6641M → T in CINCA. 1 Publication
VAR_014370
Natural varianti705 – 7051Q → K.1 Publication
Corresponds to variant rs35829419 [ dbSNP | Ensembl ].		VAR_043693
Natural varianti861 – 8611Y → C in CINCA. 1 Publication
VAR_023551

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei720 – 1036317Missing in isoform 3. 1 PublicationVSP_005519Add
BLAST
Alternative sequencei721 – 77757Missing in isoform 1 and isoform 4. 6 PublicationsVSP_005520Add
BLAST
Alternative sequencei776 – 79621WLGRC…LVLSS → C in isoform 6. 1 PublicationVSP_053714Add
BLAST
Alternative sequencei836 – 89257Missing in isoform 1 and isoform 5. 6 PublicationsVSP_005521Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1632.1. [Q96P20-1]
CCDS1633.1. [Q96P20-2]
CCDS44346.1. [Q96P20-5]
CCDS44347.1. [Q96P20-4]
RefSeqiNP_001073289.1. NM_001079821.2. [Q96P20-1]
NP_001120933.1. NM_001127461.2. [Q96P20-5]
NP_001120934.1. NM_001127462.2. [Q96P20-4]
NP_001230062.1. NM_001243133.1.
NP_004886.3. NM_004895.4. [Q96P20-1]
NP_899632.1. NM_183395.2. [Q96P20-2]
XP_005273093.1. XM_005273036.1. [Q96P20-1]
XP_005273094.1. XM_005273037.1. [Q96P20-1]
XP_005273095.1. XM_005273038.1. [Q96P20-4]
XP_006711796.1. XM_006711733.1. [Q96P20-1]
UniGeneiHs.159483.

Genome annotation databases

EnsembliENST00000336119; ENSP00000337383; ENSG00000162711. [Q96P20-1]
ENST00000348069; ENSP00000294752; ENSG00000162711. [Q96P20-2]
ENST00000366496; ENSP00000355452; ENSG00000162711. [Q96P20-5]
ENST00000366497; ENSP00000355453; ENSG00000162711. [Q96P20-5]
ENST00000391827; ENSP00000375703; ENSG00000162711. [Q96P20-4]
ENST00000391828; ENSP00000375704; ENSG00000162711. [Q96P20-1]
GeneIDi114548.
KEGGihsa:114548.
UCSCiuc001icr.3. human. [Q96P20-1]
uc001ics.3. human. [Q96P20-5]
uc001icv.3. human. [Q96P20-2]
uc001icw.3. human. [Q96P20-4]

Polymorphism databases

DMDMi262527566.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

INFEVERS

Repertory of FMF and hereditary autoinflammatory disorders mutations

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
 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.
CCDSi CCDS1632.1. [Q96P20-1 ]
CCDS1633.1. [Q96P20-2 ]
CCDS44346.1. [Q96P20-5 ]
CCDS44347.1. [Q96P20-4 ]
RefSeqi NP_001073289.1. NM_001079821.2. [Q96P20-1 ]
NP_001120933.1. NM_001127461.2. [Q96P20-5 ]
NP_001120934.1. NM_001127462.2. [Q96P20-4 ]
NP_001230062.1. NM_001243133.1.
NP_004886.3. NM_004895.4. [Q96P20-1 ]
NP_899632.1. NM_183395.2. [Q96P20-2 ]
XP_005273093.1. XM_005273036.1. [Q96P20-1 ]
XP_005273094.1. XM_005273037.1. [Q96P20-1 ]
XP_005273095.1. XM_005273038.1. [Q96P20-4 ]
XP_006711796.1. XM_006711733.1. [Q96P20-1 ]
UniGenei Hs.159483.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3QF2 X-ray 1.70 A/B 3-112 [» ]
ProteinModelPortali Q96P20.
SMRi Q96P20. Positions 5-110.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125319. 5 interactions.
DIPi DIP-41153N.
IntActi Q96P20. 3 interactions.
MINTi MINT-230535.

Chemistry

ChEMBLi CHEMBL1741208.

PTM databases

PhosphoSitei Q96P20.

Polymorphism databases

DMDMi 262527566.

Proteomic databases

PaxDbi Q96P20.
PRIDEi Q96P20.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000336119 ; ENSP00000337383 ; ENSG00000162711 . [Q96P20-1 ]
ENST00000348069 ; ENSP00000294752 ; ENSG00000162711 . [Q96P20-2 ]
ENST00000366496 ; ENSP00000355452 ; ENSG00000162711 . [Q96P20-5 ]
ENST00000366497 ; ENSP00000355453 ; ENSG00000162711 . [Q96P20-5 ]
ENST00000391827 ; ENSP00000375703 ; ENSG00000162711 . [Q96P20-4 ]
ENST00000391828 ; ENSP00000375704 ; ENSG00000162711 . [Q96P20-1 ]
GeneIDi 114548.
KEGGi hsa:114548.
UCSCi uc001icr.3. human. [Q96P20-1 ]
uc001ics.3. human. [Q96P20-5 ]
uc001icv.3. human. [Q96P20-2 ]
uc001icw.3. human. [Q96P20-4 ]

Organism-specific databases

CTDi 114548.
GeneCardsi GC01P247579.
HGNCi HGNC:16400. NLRP3.
HPAi CAB009190.
HPA012878.
HPA017374.
MIMi 120100. phenotype.
191900. phenotype.
606416. gene.
607115. phenotype.
neXtProti NX_Q96P20.
Orphaneti 93365. CINCA syndrome with NLRP3 mutations.
47045. Familial cold urticaria.
575. Muckle-Wells syndrome.
PharmGKBi PA26512.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG82860.
GeneTreei ENSGT00770000120466.
HOVERGENi HBG063656.
InParanoidi Q96P20.
KOi K12800.
OMAi HLTSSFC.
OrthoDBi EOG7P5T07.
PhylomeDBi Q96P20.
TreeFami TF340267.

Enzyme and pathway databases

Reactomei REACT_75808. The NLRP3 inflammasome.

Miscellaneous databases

GeneWikii NALP3.
GenomeRNAii 114548.
NextBioi 35481188.
PROi Q96P20.
SOURCEi Search...

Gene expression databases

Bgeei Q96P20.
ExpressionAtlasi Q96P20. baseline and differential.
Genevestigatori Q96P20.

Family and domain databases

Gene3Di 1.10.533.10. 1 hit.
InterProi IPR004020. DAPIN.
IPR011029. DEATH-like_dom.
IPR003590. Leu-rich_rpt_RNase_inh_sub-typ.
IPR007111. NACHT_NTPase.
IPR029495. NATCH-assoc.
IPR027417. P-loop_NTPase.
[Graphical view ]
Pfami PF14484. FISNA. 1 hit.
PF02758. PYRIN. 1 hit.
[Graphical view ]
SMARTi SM00368. LRR_RI. 3 hits.
[Graphical view ]
SUPFAMi SSF47986. SSF47986. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEi PS50824. DAPIN. 1 hit.
PS50837. NACHT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. "The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing."
    Papin S., Cuenin S., Agostini L., Martinon F., Werner S., Beer H.D., Grutter C., Grutter M., Tschopp J.
    Cell Death Differ. 14:1457-1466(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MEFV.
  13. "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.
  14. "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.
  15. Cited for: INTERACTION WITH EIF2AK2.
  16. "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.
  17. "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.
  18. "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.
  19. "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.
  20. "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.
  21. "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.
  22. "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.
  23. "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.
  24. "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.
  25. "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.
  26. "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.

Entry informationi

Entry nameiNALP3_HUMAN
AccessioniPrimary (citable) accession number: Q96P20
Secondary accession number(s): B2RC97
, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: November 3, 2009
Last modified: January 7, 2015
This is version 151 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.
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