NALP8_HUMAN
ID NALP8_HUMAN Reviewed; 1048 AA.
AC Q86W28; Q7RTR4;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 03-APR-2007, sequence version 2.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=NACHT, LRR and PYD domains-containing protein 8;
DE AltName: Full=Nucleotide-binding oligomerization domain protein 16;
DE AltName: Full=PYRIN and NACHT-containing protein 4;
GN Name=NLRP8; Synonyms=NALP8, NOD16, PAN4;
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 2).
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 [2]
RP IDENTIFICATION [MRNA] (ISOFORM 1).
RX PubMed=12766759; DOI=10.1038/nri1086;
RA Inohara N., Nunez G.;
RT "NODs: intracellular proteins involved in inflammation and apoptosis.";
RL Nat. Rev. Immunol. 3:371-382(2003).
RN [3]
RP VARIANTS [LARGE SCALE ANALYSIS] ARG-126; VAL-375 AND LEU-1045.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Involved in inflammation. {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86W28-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86W28-2; Sequence=VSP_024274;
CC -!- SIMILARITY: Belongs to the NLRP family. {ECO:0000305}.
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DR EMBL; AY154463; AAO18159.1; -; mRNA.
DR EMBL; BK001109; DAA01242.1; -; mRNA.
DR CCDS; CCDS12937.1; -. [Q86W28-1]
DR CCDS; CCDS82402.1; -. [Q86W28-2]
DR RefSeq; NP_001303929.1; NM_001317000.1. [Q86W28-2]
DR RefSeq; NP_789781.2; NM_176811.2. [Q86W28-1]
DR AlphaFoldDB; Q86W28; -.
DR SMR; Q86W28; -.
DR BioGRID; 125964; 21.
DR STRING; 9606.ENSP00000291971; -.
DR iPTMnet; Q86W28; -.
DR PhosphoSitePlus; Q86W28; -.
DR BioMuta; NLRP8; -.
DR DMDM; 143355070; -.
DR MassIVE; Q86W28; -.
DR PaxDb; Q86W28; -.
DR PeptideAtlas; Q86W28; -.
DR PRIDE; Q86W28; -.
DR ProteomicsDB; 70106; -. [Q86W28-1]
DR ProteomicsDB; 70107; -. [Q86W28-2]
DR Antibodypedia; 46494; 44 antibodies from 19 providers.
DR DNASU; 126205; -.
DR Ensembl; ENST00000291971.7; ENSP00000291971.3; ENSG00000179709.8. [Q86W28-1]
DR Ensembl; ENST00000590542.1; ENSP00000468121.1; ENSG00000179709.8. [Q86W28-2]
DR GeneID; 126205; -.
DR KEGG; hsa:126205; -.
DR MANE-Select; ENST00000291971.7; ENSP00000291971.3; NM_176811.2; NP_789781.2.
DR UCSC; uc002qmh.3; human. [Q86W28-1]
DR CTD; 126205; -.
DR DisGeNET; 126205; -.
DR GeneCards; NLRP8; -.
DR HGNC; HGNC:22940; NLRP8.
DR HPA; ENSG00000179709; Not detected.
DR MIM; 609659; gene.
DR neXtProt; NX_Q86W28; -.
DR OpenTargets; ENSG00000179709; -.
DR PharmGKB; PA162398028; -.
DR VEuPathDB; HostDB:ENSG00000179709; -.
DR eggNOG; ENOG502RSHR; Eukaryota.
DR GeneTree; ENSGT00940000163909; -.
DR HOGENOM; CLU_002274_2_1_1; -.
DR InParanoid; Q86W28; -.
DR OMA; FPGRLAW; -.
DR OrthoDB; 114368at2759; -.
DR PhylomeDB; Q86W28; -.
DR PathwayCommons; Q86W28; -.
DR SignaLink; Q86W28; -.
DR BioGRID-ORCS; 126205; 7 hits in 1062 CRISPR screens.
DR ChiTaRS; NLRP8; human.
DR GeneWiki; NLRP8; -.
DR GenomeRNAi; 126205; -.
DR Pharos; Q86W28; Tdark.
DR PRO; PR:Q86W28; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q86W28; protein.
DR Bgee; ENSG00000179709; Expressed in secondary oocyte.
DR Genevisible; Q86W28; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
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; -; 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; 3.
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 SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS50824; DAPIN; 1.
DR PROSITE; PS50837; NACHT; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ATP-binding; Cytoplasm; Leucine-rich repeat;
KW Nucleotide-binding; Reference proteome; Repeat.
FT CHAIN 1..1048
FT /note="NACHT, LRR and PYD domains-containing protein 8"
FT /id="PRO_0000282990"
FT DOMAIN 33..131
FT /note="Pyrin"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00061"
FT DOMAIN 204..527
FT /note="NACHT"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00136"
FT REPEAT 815..838
FT /note="LRR 2"
FT REPEAT 839..861
FT /note="LRR 3"
FT REPEAT 866..890
FT /note="LRR 4"
FT REPEAT 923..950
FT /note="LRR 5"
FT REPEAT 980..1007
FT /note="LRR 6"
FT REGION 1..23
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1029..1048
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 210..217
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00136"
FT VAR_SEQ 846..864
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12563287"
FT /id="VSP_024274"
FT VARIANT 25
FT /note="P -> L (in dbSNP:rs306507)"
FT /id="VAR_031452"
FT VARIANT 116
FT /note="V -> L (in dbSNP:rs306506)"
FT /id="VAR_031453"
FT VARIANT 126
FT /note="P -> R (in a breast cancer sample; somatic mutation;
FT dbSNP:rs61739987)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036383"
FT VARIANT 234
FT /note="A -> T (in dbSNP:rs11880691)"
FT /id="VAR_031454"
FT VARIANT 268
FT /note="Q -> R (in dbSNP:rs7259764)"
FT /id="VAR_031455"
FT VARIANT 367
FT /note="Q -> E (in dbSNP:rs11880748)"
FT /id="VAR_031456"
FT VARIANT 375
FT /note="E -> V (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036384"
FT VARIANT 543
FT /note="A -> V (in dbSNP:rs41391053)"
FT /id="VAR_053618"
FT VARIANT 651
FT /note="R -> W (in dbSNP:rs41481648)"
FT /id="VAR_053619"
FT VARIANT 782
FT /note="V -> A (in dbSNP:rs306496)"
FT /id="VAR_031457"
FT VARIANT 937
FT /note="K -> R (in dbSNP:rs306481)"
FT /id="VAR_031458"
FT VARIANT 1045
FT /note="Q -> L (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036385"
SQ SEQUENCE 1048 AA; 119430 MW; BE429B78960FF746 CRC64;
MSDVNPPSDT PIPFSSSSTH SSHIPPWTFS CYPGSPCENG VMLYMRNVSH EELQRFKQLL
LTELSTGTMP ITWDQVETAS WAEVVHLLIE RFPGRRAWDV TSNIFAIMNC DKMCVVVRRE
INAILPTLEP EDLNVGETQV NLEEGESGKI RRYKSNVMEK FFPIWDITTW PGNQRDFFYQ
GVHRHEEYLP CLLLPKRPQG RQPKTVAIQG APGIGKTILA KKVMFEWARN KFYAHKRWCA
FYFHCQEVNQ TTDQSFSELI EQKWPGSQDL VSKIMSKPDQ LLLLLDGFEE LTSTLIDRLE
DLSEDWRQKL PGSVLLSSLL SKTMLPEATL LIMIRFTSWQ TCKPLLKCPS LVTLPGFNTM
EKIKYFQMYF GHTEEGDQVL SFAMENTILF SMCRVPVVCW MVCSGLKQQM ERGNNLTQSC
PNATSVFVRY ISSLFPTRAE NFSRKIHQAQ LEGLCHLAAD SMWHRKWVLG KEDLEEAKLD
QTGVTAFLGM SILRRIAGEE DHYVFTLVTF QEFFAALFYV LCFPQRLKNF HVLSHVNIQR
LIASPRGSKS YLSHMGLFLF GFLNEACASA VEQSFQCKVS FGNKRKLLKV IPLLHKCDPP
SPGSGVPQLF YCLHEIREEA FVSQALNDYH KVVLRIGNNK EVQVSAFCLK RCQYLHEVEL
TVTLNFMNVW KLSSSSHPGS EAPESNGLHR WWQDLCSVFA TNDKLEVLTM TNSVLGPPFL
KALAAALRHP QCKLQKLLLR RVNSTMLNQD LIGVLTGNQH LRYLEIQHVE VESKAVKLLC
RVLRSPRCRL QCLRLEDCLA TPRIWTDLGN NLQGNGHLKT LILRKNSLEN CGAYYLSVAQ
LERLSIENCN LTQLTCESLA SCLRQSKMLT HLSLAENALK DEGAKHIWNA LPHLRCPLQR
LVLRKCDLTF NCCQDMISAL CKNKTLKSLD LSFNSLKDDG VILLCEALKN PDCTLQILEL
ENCLFTSICC QAMASMLRKN QHLRHLDLSK NAIGVYGILT LCEAFSSQKK REEVIFCIPA
WTRITSFSPT PHPPDFTGKS DCLSQINP
