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NAL13_HUMAN
ID   NAL13_HUMAN             Reviewed;        1043 AA.
AC   Q86W25; Q7RTR5;
DT   13-APR-2004, integrated into UniProtKB/Swiss-Prot.
DT   17-APR-2007, sequence version 2.
DT   03-AUG-2022, entry version 154.
DE   RecName: Full=NACHT, LRR and PYD domains-containing protein 13;
DE   AltName: Full=Nucleotide-binding oligomerization domain protein 14;
GN   Name=NLRP13; Synonyms=NALP13, NOD14;
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], AND VARIANT ARG-247.
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   NUCLEOTIDE SEQUENCE [MRNA].
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).
CC   -!- FUNCTION: Involved in inflammation. {ECO:0000305}.
CC   -!- SIMILARITY: Belongs to the NLRP family. {ECO:0000305}.
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DR   EMBL; AY154468; AAO18164.1; -; mRNA.
DR   EMBL; BK001108; DAA01241.1; -; mRNA.
DR   CCDS; CCDS33119.1; -.
DR   RefSeq; NP_001307986.1; NM_001321057.1.
DR   RefSeq; NP_789780.2; NM_176810.2.
DR   AlphaFoldDB; Q86W25; -.
DR   SMR; Q86W25; -.
DR   BioGRID; 125963; 3.
DR   STRING; 9606.ENSP00000343891; -.
DR   iPTMnet; Q86W25; -.
DR   PhosphoSitePlus; Q86W25; -.
DR   BioMuta; NLRP13; -.
DR   DMDM; 145559500; -.
DR   jPOST; Q86W25; -.
DR   MassIVE; Q86W25; -.
DR   PaxDb; Q86W25; -.
DR   PeptideAtlas; Q86W25; -.
DR   PRIDE; Q86W25; -.
DR   ProteomicsDB; 70104; -.
DR   Antibodypedia; 59163; 44 antibodies from 19 providers.
DR   DNASU; 126204; -.
DR   Ensembl; ENST00000342929.4; ENSP00000343891.3; ENSG00000173572.12.
DR   GeneID; 126204; -.
DR   KEGG; hsa:126204; -.
DR   MANE-Select; ENST00000342929.4; ENSP00000343891.3; NM_176810.2; NP_789780.2.
DR   UCSC; uc010ygg.3; human.
DR   CTD; 126204; -.
DR   DisGeNET; 126204; -.
DR   GeneCards; NLRP13; -.
DR   HGNC; HGNC:22937; NLRP13.
DR   HPA; ENSG00000173572; Not detected.
DR   MIM; 609660; gene.
DR   neXtProt; NX_Q86W25; -.
DR   OpenTargets; ENSG00000173572; -.
DR   PharmGKB; PA162397891; -.
DR   VEuPathDB; HostDB:ENSG00000173572; -.
DR   eggNOG; ENOG502QV55; Eukaryota.
DR   GeneTree; ENSGT00940000163591; -.
DR   HOGENOM; CLU_002274_2_1_1; -.
DR   InParanoid; Q86W25; -.
DR   OMA; CITFTHL; -.
DR   OrthoDB; 114368at2759; -.
DR   PhylomeDB; Q86W25; -.
DR   PathwayCommons; Q86W25; -.
DR   BioGRID-ORCS; 126204; 12 hits in 1061 CRISPR screens.
DR   GeneWiki; NLRP13; -.
DR   GenomeRNAi; 126204; -.
DR   Pharos; Q86W25; Tdark.
DR   PRO; PR:Q86W25; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   RNAct; Q86W25; protein.
DR   Bgee; ENSG00000173572; Expressed in oocyte and 37 other tissues.
DR   ExpressionAtlas; Q86W25; baseline and differential.
DR   Genevisible; Q86W25; 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; -; 3.
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; 4.
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   ATP-binding; Leucine-rich repeat; Nucleotide-binding; Reference proteome;
KW   Repeat.
FT   CHAIN           1..1043
FT                   /note="NACHT, LRR and PYD domains-containing protein 13"
FT                   /id="PRO_0000080900"
FT   DOMAIN          1..107
FT                   /note="Pyrin"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00061"
FT   DOMAIN          229..558
FT                   /note="NACHT"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00136"
FT   REPEAT          725..749
FT                   /note="LRR 1"
FT   REPEAT          781..804
FT                   /note="LRR 2"
FT   REPEAT          837..864
FT                   /note="LRR 3"
FT   REPEAT          894..917
FT                   /note="LRR 4"
FT   REPEAT          923..946
FT                   /note="LRR 5"
FT   REPEAT          951..978
FT                   /note="LRR 6"
FT   REPEAT          1007..1030
FT                   /note="LRR 7"
FT   BINDING         235..242
FT                   /ligand="ATP"
FT                   /ligand_id="ChEBI:CHEBI:30616"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00136"
FT   VARIANT         247
FT                   /note="Q -> R (in dbSNP:rs303997)"
FT                   /evidence="ECO:0000269|PubMed:12563287"
FT                   /id="VAR_031707"
FT   VARIANT         781
FT                   /note="N -> S (in dbSNP:rs17711239)"
FT                   /id="VAR_031708"
FT   CONFLICT        1030..1043
FT                   /note="KALKKSTCRLQKLG -> FKKTCTM (in Ref. 2; DAA01241)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1043 AA;  118884 MW;  D2BAE6D83ACCA112 CRC64;
     MNFSVITCPN GGTNQGLLPY LMALDQYQLE EFKLCLEPQQ LMDFWSAPQG HFPRIPWANL
     RAADPLNLSF LLDEHFPKGQ AWKVVLGIFQ TMNLTSLCEK VRAEMKENVQ TQELQDPTQE
     DLEMLEAAAG NMQTQGCQDP NQEELDELEE ETGNVQAQGC QDPNQEEPEM LEEADHRRKY
     RENMKAELLE TWDNISWPKD HVYIRNTSKD EHEELQRLLD PNRTRAQAQT IVLVGRAGVG
     KTTLAMQAML HWANGVLFQQ RFSYVFYLSC HKIRYMKETT FAELISLDWP DFDAPIEEFM
     SQPEKLLFII DGFEEIIISE SRSESLDDGS PCTDWYQELP VTKILHSLLK KELVPLATLL
     ITIKTWFVRD LKASLVNPCF VQITGFTGDD LRVYFMRHFD DSSEVEKILQ QLRKNETLFH
     SCSAPMVCWT VCSCLKQPKV RYYDLQSITQ TTTSLYAYFF SNLFSTAEVD LADDSWPGQW
     RALCSLAIEG LWSMNFTFNK EDTEIEGLEV PFIDSLYEFN ILQKINDCGG CTTFTHLSFQ
     EFFAAMSFVL EEPREFPPHS TKPQEMKMLL QHVLLDKEAY WTPVVLFFFG LLNKNIAREL
     EDTLHCKISP RVMEELLKWG EELGKAESAS LQFHILRLFH CLHESQEEDF TKKMLGRIFE
     VDLNILEDEE LQASSFCLKH CKRLNKLRLS VSSHILERDL EILETSKFDS RMHAWNSICS
     TLVTNENLHE LDLSNSKLHA SSVKGLCLAL KNPRCKVQKL TCKSVTPEWV LQDLIIALQG
     NSKLTHLNFS SNKLGMTVPL ILKALRHSAC NLKYLCLEKC NLSAASCQDL ALFLTSIQHV
     TRLCLGFNRL QDDGIKLLCA ALTHPKCALE RLELWFCQLA APACKHLSDA LLQNRSLTHL
     NLSKNSLRDE GVKFLCEALG RPDGNLQSLN LSGCSFTREG CGELANALSH NHNVKILDLG
     ENDLQDDGVK LLCEALKPHR ALHTLGLAKC NLTTACCQHL FSVLSSSKSL VNLNLLGNEL
     DTDGVKMLCK ALKKSTCRLQ KLG
 
 
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