NAL11_HUMAN
ID NAL11_HUMAN Reviewed; 1033 AA.
AC P59045; C9JSF5; Q2TV85; Q2TV86; Q53ZZ0; Q8NBF5;
DT 19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 09-FEB-2010, sequence version 2.
DT 03-AUG-2022, entry version 169.
DE RecName: Full=NACHT, LRR and PYD domains-containing protein 11;
DE AltName: Full=Nucleotide-binding oligomerization domain protein 17;
DE AltName: Full=PAAD-and NACHT domain-containing protein 10;
DE AltName: Full=PYRIN-containing APAF1-like protein 6;
GN Name=NLRP11; Synonyms=NALP11, NOD17, PAN10, PYPAF6;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT SER-188.
RX PubMed=12019269; DOI=10.1074/jbc.m203915200;
RA Wang L., Manji G.A., Grenier J.M., Al-Garawi A., Merriam S., Lora J.M.,
RA 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 processing.";
RL J. Biol. Chem. 277:29874-29880(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT SER-188.
RX PubMed=12615073; DOI=10.1016/s0006-291x(03)00221-3;
RA Dowds T.A., Masumoto J., Chen F.F., Ogura Y., Inohara N., Nunez G.;
RT "Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial
RT Mediterranean fever gene product.";
RL Biochem. Biophys. Res. Commun. 302:575-580(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT SER-188.
RX 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 [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), AND VARIANT SER-188.
RA Stehlik C., Xu F., Stassinopoulos A., Godzik A., Reed J.C.;
RT "PAN10: a novel PAAD-containing protein.";
RL Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT SER-188.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT SER-188.
RC TISSUE=Lymph;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 365-1033 (ISOFORM 2).
RC TISSUE=Glial tumor;
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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
CC -!- FUNCTION: Involved in inflammation. {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P59045-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P59045-2; Sequence=VSP_007068;
CC Name=3;
CC IsoId=P59045-3; Sequence=VSP_038210;
CC -!- SIMILARITY: Belongs to the NLRP family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC03490.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AY095145; AAM14632.1; -; mRNA.
DR EMBL; AY226382; AAO59428.1; -; mRNA.
DR EMBL; AY154466; AAO18162.1; -; mRNA.
DR EMBL; AY168967; AAO12532.1; -; mRNA.
DR EMBL; AY168968; AAO12533.1; -; mRNA.
DR EMBL; AC008749; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC012310; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471135; EAW72415.1; -; Genomic_DNA.
DR EMBL; BC034730; AAH34730.1; -; mRNA.
DR EMBL; AK090621; BAC03490.1; ALT_INIT; mRNA.
DR CCDS; CCDS12935.1; -. [P59045-1]
DR CCDS; CCDS74458.1; -. [P59045-3]
DR RefSeq; NP_001284672.1; NM_001297743.1. [P59045-3]
DR RefSeq; NP_659444.2; NM_145007.3. [P59045-1]
DR AlphaFoldDB; P59045; -.
DR SMR; P59045; -.
DR BioGRID; 128489; 1.
DR IntAct; P59045; 2.
DR STRING; 9606.ENSP00000466285; -.
DR iPTMnet; P59045; -.
DR PhosphoSitePlus; P59045; -.
DR BioMuta; NLRP11; -.
DR DMDM; 288558818; -.
DR jPOST; P59045; -.
DR MassIVE; P59045; -.
DR PaxDb; P59045; -.
DR PeptideAtlas; P59045; -.
DR PRIDE; P59045; -.
DR ProteomicsDB; 57114; -. [P59045-1]
DR ProteomicsDB; 57115; -. [P59045-2]
DR ProteomicsDB; 57116; -. [P59045-3]
DR Antibodypedia; 33155; 107 antibodies from 25 providers.
DR DNASU; 204801; -.
DR Ensembl; ENST00000589093.5; ENSP00000466285.1; ENSG00000179873.14. [P59045-1]
DR Ensembl; ENST00000589824.6; ENSP00000468082.1; ENSG00000179873.14. [P59045-2]
DR Ensembl; ENST00000592953.5; ENSP00000468196.1; ENSG00000179873.14. [P59045-3]
DR GeneID; 204801; -.
DR KEGG; hsa:204801; -.
DR MANE-Select; ENST00000589093.6; ENSP00000466285.1; NM_001394894.2; NP_001381823.1.
DR UCSC; uc002qlz.4; human. [P59045-1]
DR CTD; 204801; -.
DR DisGeNET; 204801; -.
DR GeneCards; NLRP11; -.
DR HGNC; HGNC:22945; NLRP11.
DR HPA; ENSG00000179873; Tissue enhanced (epididymis, liver).
DR MIM; 609664; gene.
DR neXtProt; NX_P59045; -.
DR OpenTargets; ENSG00000179873; -.
DR PharmGKB; PA162397841; -.
DR VEuPathDB; HostDB:ENSG00000179873; -.
DR eggNOG; ENOG502QQ5H; Eukaryota.
DR GeneTree; ENSGT00940000163635; -.
DR HOGENOM; CLU_002274_2_1_1; -.
DR InParanoid; P59045; -.
DR OMA; WRDICSL; -.
DR OrthoDB; 114368at2759; -.
DR PhylomeDB; P59045; -.
DR PathwayCommons; P59045; -.
DR SignaLink; P59045; -.
DR BioGRID-ORCS; 204801; 12 hits in 1060 CRISPR screens.
DR ChiTaRS; NLRP11; human.
DR GeneWiki; NLRP11; -.
DR GenomeRNAi; 204801; -.
DR Pharos; P59045; Tbio.
DR PRO; PR:P59045; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; P59045; protein.
DR Bgee; ENSG00000179873; Expressed in secondary oocyte and 19 other tissues.
DR ExpressionAtlas; P59045; baseline and differential.
DR Genevisible; P59045; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0016715; F:oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen; IEA:InterPro.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0050727; P:regulation of inflammatory response; IBA:GO_Central.
DR Gene3D; 1.10.533.10; -; 1.
DR Gene3D; 3.40.50.300; -; 1.
DR Gene3D; 3.80.10.10; -; 3.
DR InterPro; IPR020611; Cu2_ascorb_mOase_CS-1.
DR InterPro; IPR004020; DAPIN.
DR InterPro; IPR011029; DEATH-like_dom_sf.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR007111; NACHT_NTPase.
DR InterPro; IPR041267; NLRP_HD2.
DR InterPro; IPR041075; NOD2_WH.
DR InterPro; IPR027417; P-loop_NTPase.
DR Pfam; PF13516; LRR_6; 2.
DR Pfam; PF05729; NACHT; 1.
DR Pfam; PF17776; NLRC4_HD2; 1.
DR Pfam; PF17779; NOD2_WH; 1.
DR Pfam; PF02758; PYRIN; 1.
DR SMART; SM01289; PYRIN; 1.
DR SUPFAM; SSF47986; SSF47986; 1.
DR PROSITE; PS50824; DAPIN; 1.
DR PROSITE; PS50837; NACHT; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ATP-binding; Leucine-rich repeat; Nucleotide-binding;
KW Reference proteome; Repeat.
FT CHAIN 1..1033
FT /note="NACHT, LRR and PYD domains-containing protein 11"
FT /id="PRO_0000080898"
FT DOMAIN 1..91
FT /note="Pyrin"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00061"
FT DOMAIN 147..470
FT /note="NACHT"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00136"
FT REPEAT 588..611
FT /note="LRR 1"
FT REPEAT 632..655
FT /note="LRR 2"
FT REPEAT 745..768
FT /note="LRR 3"
FT REPEAT 802..827
FT /note="LRR 4"
FT REPEAT 859..882
FT /note="LRR 5"
FT REPEAT 919..944
FT /note="LRR 6"
FT BINDING 153..160
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00136"
FT VAR_SEQ 1..99
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.4"
FT /id="VSP_038210"
FT VAR_SEQ 614..668
FT /note="SQMKSLVYWREICSLFYTMESLRELHIFDNDLNGISERILSKALEHSSCKLR
FT TLK -> R (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_007068"
FT VARIANT 188
FT /note="A -> S (in dbSNP:rs299163)"
FT /evidence="ECO:0000269|PubMed:12019269,
FT ECO:0000269|PubMed:12563287, ECO:0000269|PubMed:12615073,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4,
FT ECO:0000269|Ref.6"
FT /id="VAR_060212"
FT VARIANT 233
FT /note="N -> D (in dbSNP:rs59244027)"
FT /id="VAR_062141"
FT VARIANT 438
FT /note="P -> L (in dbSNP:rs12461110)"
FT /id="VAR_057710"
FT CONFLICT 788
FT /note="T -> I (in Ref. 8; BAC03490)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1033 AA; 117779 MW; FFC12B960F0B63B6 CRC64;
MAESDSTDFD LLWYLENLSD KEFQSFKKYL ARKILDFKLP QFPLIQMTKE ELANVLPISY
EGQYIWNMLF SIFSMMRKED LCRKIIGRRN RNQEACKAVM RRKFMLQWES HTFGKFHYKF
FRDVSSDVFY ILQLAYDSTS YYSANNLNVF LMGERASGKT IVINLAVLRW IKGEMWQNMI
SYVVHLTAHE INQMTNSSLA ELIAKDWPDG QAPIADILSD PKKLLFILED LDNIRFELNV
NESALCSNST QKVPIPVLLV SLLKRKMAPG CWFLISSRPT RGNNVKTFLK EVDCCTTLQL
SNGKREIYFN SFFKDRQRAS AALQLVHEDE ILVGLCRVAI LCWITCTVLK RQMDKGRDFQ
LCCQTPTDLH AHFLADALTS EAGLTANQYH LGLLKRLCLL AAGGLFLSTL NFSGEDLRCV
GFTEADVSVL QAANILLPSN THKDRYKFIH LNVQEFCTAI AFLMAVPNYL IPSGSREYKE
KREQYSDFNQ VFTFIFGLLN ANRRKILETS FGYQLPMVDS FKWYSVGYMK HLDRDPEKLT
HHMPLFYCLY ENREEEFVKT IVDALMEVTV YLQSDKDMMV SLYCLDYCCH LRTLKLSVQR
IFQNKEPLIR PTASQMKSLV YWREICSLFY TMESLRELHI FDNDLNGISE RILSKALEHS
SCKLRTLKLS YVSTASGFED LLKALARNRS LTYLSINCTS ISLNMFSLLH DILHEPTCQI
SHLSLMKCDL RASECEEIAS LLISGGSLRK LTLSSNPLRS DGMNILCDAL LHPNCTLISL
VLVFCCLTEN CCSALGRVLL FSPTLRQLDL CVNRLKNYGV LHVTFPLLFP TCQLEELHLS
GCFFSSDICQ YIAIVIATNE KLRSLEIGSN KIEDAGMQLL CGGLRHPNCM LVNIGLEECM
LTSACCRSLA SVLTTNKTLE RLNLLQNHLG NDGVAKLLES LISPDCVLKV VGLPLTGLNT
QTQQLLMTVK ERKPSLIFLS ETWSLKEGRE IGVTPASQPG SIIPNSNLDY MFFKFPRMSA
AMRTSNTASR QPL