ID   NALP6_HUMAN             Reviewed;         892 AA.
AC   P59044; A8K9F3;
DT   19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT   22-SEP-2009, sequence version 2.
DT   25-JAN-2012, entry version 83.
DE   RecName: Full=NACHT, LRR and PYD domains-containing protein 6;
DE   AltName: Full=PYRIN-containing APAF1-like protein 5;
GN   Name=NLRP6; Synonyms=NALP6, PYPAF5;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS LEU-163 AND PHE-361.
RX   MEDLINE=22162427; PubMed=12019269; DOI=10.1074/jbc.M203915200;
RA   Wang L., Manji G.A., Grenier J.M., Al-Garawi A., Merriam S.,
RA   Lora J.M., Geddes B.J., Briskin M., DiStefano P.S., Bertin J.;
RT   "PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates
RT   activation of NF-kappa B and caspase-1-dependent cytokine
RT   processing.";
RL   J. Biol. Chem. 277:29874-29880(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS LEU-163 AND PHE-361.
RX   MEDLINE=22451042; PubMed=12563287; DOI=10.1038/nrm1019;
RA   Tschopp J., Martinon F., Burns K.;
RT   "NALPs: a novel protein family involved in inflammation.";
RL   Nat. Rev. Mol. Cell Biol. 4:95-104(2003).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS LEU-163 AND
RP   PHE-361.
RC   TISSUE=Thymus;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16554811; DOI=10.1038/nature04632;
RA   Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA   Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
RA   Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
RA   FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
RA   Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
RA   Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
RA   Sakaki Y.;
RT   "Human chromosome 11 DNA sequence and analysis including novel gene
RT   identification.";
RL   Nature 440:497-500(2006).
RN   [5]
RP   FUNCTION.
RX   MEDLINE=22275822; PubMed=12387869; DOI=10.1016/S0014-5793(02)03416-6;
RA   Grenier J.M., Wang L., Manji G.A., Huang W.-J., Al-Garawi A.,
RA   Kelly R., Carlson A., Merriam S., Lora J.M., Briskin M.,
RA   DiStefano P.S., Bertin J.;
RT   "Functional screening of five PYPAF family members identifies PYPAF5
RT   as a novel regulator of NF-kappaB and caspase-1.";
RL   FEBS Lett. 530:73-78(2002).
CC   -!- FUNCTION: May mediate activation of CASP1 via ASC and promote
CC       activation of NF-kappa-B.
CC   -!- SUBUNIT: Binds to ASC with its DAPIN domain.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm.
CC   -!- TISSUE SPECIFICITY: Highly expressed in granulocytes. Detected at
CC       much lower levels in T-cells.
CC   -!- SIMILARITY: Belongs to the NLRP family.
CC   -!- SIMILARITY: Contains 1 DAPIN domain.
CC   -!- SIMILARITY: Contains 5 LRR (leucine-rich) repeats.
CC   -!- SIMILARITY: Contains 1 NACHT domain.
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DR   EMBL; AF479748; AAL87105.1; -; mRNA.
DR   EMBL; AY154461; AAO18157.1; -; mRNA.
DR   EMBL; AK292668; BAF85357.1; -; mRNA.
DR   EMBL; AC136475; -; NOT_ANNOTATED_CDS; mRNA.
DR   IPI; IPI00168279; -.
DR   RefSeq; NP_612202.1; NM_138329.1.
DR   UniGene; Hs.352611; -.
DR   ProteinModelPortal; P59044; -.
DR   SMR; P59044; 5-127, 192-217, 666-888.
DR   STRING; P59044; -.
DR   DMDM; 259016285; -.
DR   PRIDE; P59044; -.
DR   Ensembl; ENST00000312165; ENSP00000309767; ENSG00000174885.
DR   GeneID; 171389; -.
DR   KEGG; hsa:171389; -.
DR   UCSC; uc001loq.1; human.
DR   CTD; 171389; -.
DR   GeneCards; GC11P000269; -.
DR   H-InvDB; HIX0201710; -.
DR   HGNC; HGNC:22944; NLRP6.
DR   MIM; 609650; gene.
DR   neXtProt; NX_P59044; -.
DR   PharmGKB; PA162398002; -.
DR   eggNOG; prNOG13970; -.
DR   GeneTree; ENSGT00590000083026; -.
DR   HOGENOM; HBG283319; -.
DR   HOVERGEN; HBG108172; -.
DR   InParanoid; P59044; -.
DR   OMA; LGRRAQF; -.
DR   OrthoDB; EOG4VMFF2; -.
DR   PhylomeDB; P59044; -.
DR   NextBio; 89223; -.
DR   ArrayExpress; P59044; -.
DR   Bgee; P59044; -.
DR   CleanEx; HS_NLRP6; -.
DR   Genevestigator; P59044; -.
DR   GermOnline; ENSG00000174885; Homo sapiens.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   InterPro; IPR011029; DEATH-like.
DR   InterPro; IPR007111; NACHT_NTPase.
DR   InterPro; IPR004020; Pyrin.
DR   Gene3D; G3DSA:1.10.533.10; DEATH_like; 1.
DR   Pfam; PF02758; PAAD_DAPIN; 1.
DR   SUPFAM; SSF47986; DEATH_like; 1.
DR   PROSITE; PS50824; DAPIN; 1.
DR   PROSITE; PS50837; NACHT; 1.
PE   2: Evidence at transcript level;
KW   ATP-binding; Complete proteome; Cytoplasm; Leucine-rich repeat;
KW   Nucleotide-binding; Polymorphism; Reference proteome; Repeat.
FT   CHAIN         1    892       NACHT, LRR and PYD domains-containing
FT                                protein 6.
FT                                /FTId=PRO_0000080892.
FT   DOMAIN        1    103       DAPIN.
FT   DOMAIN      196    513       NACHT.
FT   REPEAT      462    487       LRR 1.
FT   REPEAT      727    747       LRR 2.
FT   REPEAT      755    778       LRR 3.
FT   REPEAT      811    834       LRR 4.
FT   REPEAT      845    868       LRR 5.
FT   NP_BIND     202    209       ATP (Potential).
FT   COMPBIAS    604    614       Poly-Glu.
FT   VARIANT     163    163       M -> L (in dbSNP:rs6421985).
FT                                /FTId=VAR_058968.
FT   VARIANT     361    361       Y -> F (in dbSNP:rs56159585).
FT                                /FTId=VAR_058969.
FT   CONFLICT    704    704       Missing (in Ref. 3; BAF85357).
SQ   SEQUENCE   892 AA;  98768 MW;  A987FDACE6448C6A CRC64;
     MDQPEAPCSS TGPRLAVARE LLLAALEELS QEQLKRFRHK LRDVGPDGRS IPWGRLERAD
     AVDLAEQLAQ FYGPEPALEV ARKTLKRADA RDVAAQLQER RLQRLGLGSG TLLSVSEYKK
     KYREHVLQLH ARVKERNARS VKITKRFTKL LIAPESAAPE EAMGPAEEPE PGRARRSDTH
     TFNRLFRRDE EGRRPLTVVL QGPAGIGKTM AAKKILYDWA AGKLYQGQVD FAFFMPCGEL
     LERPGTRSLA DLILDQCPDR GAPVPQMLAQ PQRLLFILDG ADELPALGGP EAAPCTDPFE
     AASGARVLGG LLSKALLPTA LLLVTTRAAA PGRLQGRLCS PQCAEVRGFS DKDKKKYFYK
     YFRDERRAER AYRFVKENET LFALCFVPFV CWIVCTVLRQ QLELGRDLSR TSKTTTSVYL
     LFITSVLSSA PVADGPRLQG DLRNLCRLAR EGVLGRRAQF AEKELEQLEL RGSKVQTLFL
     SKKELPGVLE TEVTYQFIDQ SFQEFLAALS YLLEDGGVPR TAAGGVGTLL RGDAQPHSHL
     VLTTRFLFGL LSAERMRDIE RHFGCMVSER VKQEALRWVQ GQGQGCPGVA PEVTEGAKGL
     EDTEEPEEEE EGEEPNYPLE LLYCLYETQE DAFVRQALCR FPELALQRVR FCRMDVAVLS
     YCVRCCPAGQ ALRLISCRLV AAQEKKKKSL GKRLQASLGG GSSSQGTTKQ LPASLLHPLF
     QAMTDPLCHL SSLTLSHCKL PDAVCRDLSE ALRAAPALTE LGLLHNRLSE AGLRMLSEGL
     AWPQCRVQTV RVQLPDPQRG LQYLVGMLRQ SPALTTLDLS GCQLPAPMVT YLCAVLQHQG
     CGLQTLSLAS VELSEQSLQE LQAVKRAKPD LVITHPALDG HPQPPKELIS TF
//