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 27-MAR-2024, entry version 162.
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; 4.
DR STRING; 9606.ENSP00000343891; -.
DR iPTMnet; Q86W25; -.
DR PhosphoSitePlus; Q86W25; -.
DR BioMuta; NLRP13; -.
DR DMDM; 145559500; -.
DR jPOST; Q86W25; -.
DR MassIVE; Q86W25; -.
DR PaxDb; 9606-ENSP00000343891; -.
DR PeptideAtlas; Q86W25; -.
DR ProteomicsDB; 70104; -.
DR Antibodypedia; 59163; 56 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 AGR; HGNC:22937; -.
DR DisGeNET; 126204; -.
DR GeneCards; NLRP13; -.
DR HGNC; HGNC:22937; NLRP13.
DR HPA; ENSG00000173572; Tissue enhanced (ovary).
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; TWDNIDW; -.
DR OrthoDB; 55870at2759; -.
DR PhylomeDB; Q86W25; -.
DR PathwayCommons; Q86W25; -.
DR BioGRID-ORCS; 126204; 14 hits in 1139 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 38 other cell types or 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 CDD; cd08320; Pyrin_NALPs; 1.
DR Gene3D; 1.10.533.10; Death Domain, Fas; 1.
DR Gene3D; 3.40.50.300; P-loop containing nucleotide triphosphate hydrolases; 1.
DR Gene3D; 3.80.10.10; Ribonuclease Inhibitor; 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 PANTHER; PTHR45690; NACHT, LRR AND PYD DOMAINS-CONTAINING PROTEIN 12; 1.
DR PANTHER; PTHR45690:SF16; NACHT, LRR AND PYD DOMAINS-CONTAINING PROTEIN 13; 1.
DR Pfam; PF00560; LRR_1; 1.
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; SM00368; LRR_RI; 9.
DR SMART; SM01289; PYRIN; 1.
DR SUPFAM; SSF47986; DEATH domain; 1.
DR SUPFAM; SSF52540; P-loop containing nucleoside triphosphate hydrolases; 1.
DR SUPFAM; SSF52047; RNI-like; 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
//
