ExPASy logo ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
Notice: This page will be replaced with www.uniprot.org. Please send us your feedback!
Search for

UniProtKB/Swiss-Prot entry Q9NX02


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents.
Entry information
Entry name NALP2_HUMAN
Primary accession number Q9NX02
Secondary accession numbers Q53FL5 Q59G09 Q8IXT0 Q9BVN5 Q9H6G6 Q9HAV9 Q9NWK3
Integrated into Swiss-Prot on October 18, 2001
Sequence was last modified on October 1, 2000 (Sequence version 1)
Annotations were last modified on    June 16, 2009 (Entry version 88)
Name and origin of the protein
Protein name NACHT, LRR and PYD domains-containing protein 2
Synonyms PYRIN domain and NACHT domain-containing protein 1
PYRIN-containing APAF1-like protein 2
Nucleotide-binding site protein 1
Gene name
Name: NLRP2
Synonyms: NALP2, NBS1, PAN1, PYPAF2
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
DOI=10.1038/sj.cdd.4400774; PubMed=11270363 [NCBI, ExPASy, EBI, Israel, Japan]
Bertin J., DiStefano P.S.;
"The PYRIN domain: a novel motif found in apoptosis and inflammation proteins.";
Cell Death Differ. 7:1273-1274(2000).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
DOI=10.1016/S0960-9822(01)00056-2; PubMed=11250163 [NCBI, ExPASy, EBI, Israel, Japan]
Martinon F., Hofmann K., Tschopp J.;
"The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation.";
Curr. Biol. 11:R118-R120(2001).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
DOI=10.1074/jbc.M203915200; PubMed=12019269 [NCBI, ExPASy, EBI, Israel, Japan]
Wang L., Manji G.A., Grenier J.M., Al-Garawi A., Merriam S., Lora J.M., Geddes B.J., Briskin M., DiStefano P.S., Bertin J.;
"PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing.";
J. Biol. Chem. 277:29874-29880(2002).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Colon, and Kidney epithelium;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4).
TISSUE=Brain, and Gastric mucosa;
Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.;
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT GLU-1052.
TISSUE=Lung, Placenta, and Testis;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
INTERACTION WITH PYCARD AND CARD8, AND SUBCELLULAR LOCATION.
DOI=10.1016/S1074-7613(04)00046-9; PubMed=15030775 [NCBI, ExPASy, EBI, Israel, Japan]
Agostini L., Martinon F., Burns K., McDermott M.F., Hawkins P.N., Tschopp J.;
"NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder.";
Immunity 20:319-325(2004).
[8]
FUNCTION, INTERACTION WITH CHUK; IKBKB; IKBKG AND PYCARD, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INDUCTION.
DOI=10.1074/jbc.M406741200; PubMed=15456791 [NCBI, ExPASy, EBI, Israel, Japan]
Bruey J.-M., Bruey-Sedano N., Newman R., Chandler S., Stehlik C., Reed J.C.;
"PAN1/NALP2/PYPAF2, an inducible inflammatory mediator that regulates NF-kappaB and caspase-1 activation in macrophages.";
J. Biol. Chem. 279:51897-51907(2004).
[9]
IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J., Superti-Furga G., Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
Comments
  • FUNCTION: Suppresses TNF- and CD40-induced NFKB1 activity at the level of the IKK complex, by inhibiting NFKBIA degradation induced by TNF. When associated with PYCARD, activates CASP1, leading to the secretion of mature proinflammatory cytokine IL1B. May be a component of the inflammasome, a protein complex which also includes PYCARD, CARD8 and CASP1 and whose function would be the activation of proinflammatory caspases.
  • SUBUNIT: Interacts with CHUK, IKBKB and IKBKG, as well as with full-length PYCARD and with the DAPIN domain of NAPL1, but not the full-length protein.
  • SUBCELLULAR LOCATION: Cytoplasm.
  • ALTERNATIVE PRODUCTS: 4 named isoforms [FASTA] produced by alternative splicing.
    Name1
    Isoform IDQ9NX02-1
    This is the isoform sequence displayed in this entry.
    Name2
    Isoform IDQ9NX02-2
    Features which should be applied to build the isoform sequence: VSP_005522.
    Name3
    Isoform IDQ9NX02-3
    Note: No experimental confirmation available.
    Features which should be applied to build the isoform sequence: VSP_017086.
    Name4
    Isoform IDQ9NX02-4
    Note: No experimental confirmation available.
    Features which should be applied to build the isoform sequence: VSP_017085.
  • TISSUE SPECIFICITY: Expressed at high levels in lung, placenta and thymus and at lower levels in ovary, intestine and brain.
  • INDUCTION: By interferons and lipopolysaccharide (LPS).
  • DOMAIN: The DAPIN domain is necessary and sufficient for suppression of NFKB1 activation induced by TNF and for inducing IL1B secretion in collaboration with caspase-1. It is involved in interaction with PYCARD.
  • DOMAIN: When isolated, the NACHT domain is involved in interaction with CARD8. This interaction is not detected for the full-length protein, maybe due to autoinhibition, this inhibition might by relieved by an inducible change in protein folding.
  • SIMILARITY: Belongs to the NLRP family.
  • SIMILARITY: Contains 1 DAPIN domain.
  • SIMILARITY: Contains 9 LRR (leucine-rich) repeats.
  • SIMILARITY: Contains 1 NACHT domain.
  • SEQUENCE CAUTION:
    • Sequence=BAD92537.1; Type=Frameshift; Positions=769;
    • Sequence=BAD92537.1; Type=Miscellaneous discrepancy; Note=Erroneous prediction of the initiator methionine
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF298547; AAG15253.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF310106; AAG30289.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF464764; AAL69962.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK000517; BAA91223.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK025952; BAB15293.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK000784; BAA91377.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB209300; BAD92537.1; ALT_SEQ; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK223253; BAD96973.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK223269; BAD96989.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC001039; AAH01039.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC003592; AAH03592.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC039269; AAH39269.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00016480; -.
IPI00218560; -.
IPI00719706; -.
IPI00719715; -.
RefSeq NP_060322.1; -.
UniGene Hs.369279
3D structure databases
HSSP P10775; 2BNH. [HSSP ENTRY / PDB]
ModBase Q9NX02.
Organism-specific databases
GeneCards GC19P060170; -.
H-InvDB HIX0015449; -.
HIX0057240; -.
HGNC HGNC:22948; NLRP2.
GenAtlas NLRP2.
MIM 609364; gene. [NCBI / EBI]
Gene expression databases
ArrayExpress Q9NX02; -.
Bgee Q9NX02; -.
CleanEx HS_NLRP2; -.
GermOnline ENSG00000022556; Homo sapiens.
Ontologies
GO
GO:0005737; Cellular component: cytoplasm (inferred from direct assay from HGNC).
GO:0005524; Molecular function: ATP binding (inferred from electronic annotation from UniProtKB-KW).
GO:0032090; Molecular function: Pyrin domain binding (inferred from physical interaction from HGNC).
GO:0006915; Biological process: apoptosis (inferred from electronic annotation from UniProtKB-KW).
GO:0043280; Biological process: positive regulation of caspase activity (inferred from direct assay from HGNC).
GO:0050718; Biological process: positive regulation of interleukin-1 beta secretion (inferred from direct assay from HGNC).
QuickGo view.
Family and domain databases
InterPro IPR011029; DEATH-like.
IPR007111; NACHT_NTPase.
IPR004020; Pyrin.
Graphical view of domain structure.
Gene3D G3DSA:1.10.533.10; DEATH_like; 1.
Pfam PF05729; NACHT; 1.
PF02758; PAAD_DAPIN; 1.
Pfam graphical view of domain structure.
PROSITE PS50824; DAPIN; 1.
PS50837; NACHT; 1.
PROSITE graphical view of domain structure (profiles).
Proteomic databases
PeptideAtlas Q9NX02; -.
PRIDE Q9NX02; -.
Genome annotation databases
Ensembl ENSG00000022556; Homo sapiens. [Contig view]
GeneID 55655; -.
KEGG hsa:55655; -.
Phylogenomic databases
HOVERGEN Q9NX02; -.
OMA Q9NX02; YWVEMAS.
Other
NextBio 60371; -.
SOURCE NLRP2; Homo sapiens.
ProtoNet Q9NX02.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Apoptosis; ATP-binding; Cytoplasm; Leucine-rich repeat; Nucleotide-binding; Polymorphism; Repeat.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom    To Length Description FTId
CHAIN   1   1062  1062     NACHT, LRR and PYD domains-containing protein 2. PRO_0000080888
DOMAIN   1     94  94     DAPIN. 
DOMAIN   207    526  320     NACHT. 
REPEAT   467    491  25     LRR 1. 
REPEAT   622    645  24     LRR 2. 
REPEAT   754    777  24     LRR 3. 
REPEAT   810    832  23     LRR 4. 
REPEAT   839    862  24     LRR 5. 
REPEAT   867    890  24     LRR 6. 
REPEAT   924    947  24     LRR 7. 
REPEAT   981   1005  25     LRR 8. 
REPEAT   1010   1033  24     LRR 9. 
NP_BIND   213    220  8     ATP (Potential). 
COMPBIAS   518    523  6     Poly-Glu. 
VAR_SEQ   109    132        Missing (in isoform 4). VSP_017085
VAR_SEQ   133    154        Missing (in isoform 2). VSP_005522
VAR_SEQ   847   1062        Missing (in isoform 3). VSP_017086
VARIANT   221    221  1     T -> M (in dbSNP:rs17699678 [NCBI]). VAR_053616 
VARIANT   302    302  1     E -> Q (in dbSNP:rs3745904 [NCBI]). VAR_053617 
VARIANT   364    364  1     R -> K (in dbSNP:rs4306647 [NCBI]). VAR_025011 
VARIANT   1052   1052  1     A -> E (in dbSNP:rs1043673 [NCBI]). VAR_020006 
CONFLICT   1      1        M -> V (in Ref. 1). 
CONFLICT   35     35        L -> P (in Ref. 1). 
CONFLICT   58     58        I -> V (in Ref. 6; AAH39269). 
CONFLICT   175    175        W -> C (in Ref. 5; BAD96973/BAD96989). 
CONFLICT   304    304        I -> S (in Ref. 4; BAB15293). 
CONFLICT   529    529        T -> A (in Ref. 5; BAD92537). 
CONFLICT   980    980        Missing (in Ref. 1). 
Sequence information
Length: 1062 AA [This is the length of the unprocessed precursor] Molecular weight: 120515 Da [This is the MW of the unprocessed precursor] CRC64: 4DBB0F6E9C2BC8A7 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT 

        70         80         90        100        110        120 
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV 

       130        140        150        160        170        180 
DEMLERFKTE AQAFTETKGN VICLGKEVFK GKKPDKDNRC RYILKTKFRE MWKSWPGDSK 

       190        200        210        220        230        240 
EVQVMAERYK MLIPFSNPRV LPGPFSYTVV LYGPAGLGKT TLAQKLMLDW AEDNLIHKFK 

       250        260        270        280        290        300 
YAFYLSCREL SRLGPCSFAE LVFRDWPELQ DDIPHILAQA RKILFVIDGF DELGAAPGAL 

       310        320        330        340        350        360 
IEDICGDWEK KKPVPVLLGS LLNRVMLPKA ALLVTTRPRA LRDLRILAEE PIYIRVEGFL 

       370        380        390        400        410        420 
EEDRRAYFLR HFGDEDQAMR AFELMRSNAA LFQLGSAPAV CWIVCTTLKL QMEKGEDPVP 

       430        440        450        460        470        480 
TCLTRTGLFL RFLCSRFPQG AQLRGALRTL SLLAAQGLWA QTSVLHREDL ERLGVQESDL 

       490        500        510        520        530        540 
RLFLDGDILR QDRVSKGCYS FIHLSFQQFL TALFYTLEKE EEEDRDGHTW DIGDVQKLLS 

       550        560        570        580        590        600 
GVERLRNPDL IQAGYYSFGL ANEKRAKELE ATFGCRMSPD IKQELLRCDI SCKGGHSTVT 

       610        620        630        640        650        660 
DLQELLGCLY ESQEEELVKE VMAQFKEISL HLNAVDVVPS SFCVKHCRNL QKMSLQVIKE 

       670        680        690        700        710        720 
NLPENVTASE SDAEVERSQD DQHMLPFWTD LCSIFGSNKD LMGLAINDSF LSASLVRILC 

       730        740        750        760        770        780 
EQIASDTCHL QRVVFKNISP ADAHRNLCLA LRGHKTVTYL TLQGNDQDDM FPALCEVLRH 

       790        800        810        820        830        840 
PECNLRYLGL VSCSATTQQW ADLSLALEVN QSLTCVNLSD NELLDEGAKL LYTTLRHPKC 

       850        860        870        880        890        900 
FLQRLSLENC HLTEANCKDL AAVLVVSREL THLCLAKNPI GNTGVKFLCE GLRYPECKLQ 

       910        920        930        940        950        960 
TLVLWNCDIT SDGCCDLTKL LQEKSSLLCL DLGLNHIGVK GMKFLCEALR KPLCNLRCLW 

       970        980        990       1000       1010       1020 
LWGCSIPPFS CEDLCSALSC NQSLVTLDLG QNPLGSSGVK MLFETLTCSS GTLRTLRLKI 

      1030       1040       1050       1060 
DDFNDELNKL LEEIEEKNPQ LIIDTEKHHP WAERPSSHDF MI 

Q9NX02 in FASTA format

View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

BLAST logo BLAST submission on ExPASy/SIB
or at NCBI (USA)
Tools Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
PROSITE logo ScanProsite, MotifScan SWISS-MODEL Submit a homology modeling request to SWISS-MODEL
NPSA logo NPSA Sequence analysis tools

ExPASy logo ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
 Hosted by ch flag SIB Switzerland Mirror sites: Australia  Brazil  Canada  China  Korea
Notice: This page will be replaced with www.uniprot.org. Please send us your feedback!