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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
 
 
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