LOCUS       NP_789790                991 aa            linear   PRI 08-JUN-2024
DEFINITION  NACHT, LRR and PYD domains-containing protein 9 [Homo sapiens].
ACCESSION   NP_789790
VERSION     NP_789790.2
DBSOURCE    REFSEQ: accession NM_176820.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 991)
  AUTHORS   Moon,S.W., Son,H.J., Mo,H.Y., Yoo,N.J. and Lee,S.H.
  TITLE     Somatic Mutation of NLRP Genes in Gastric and Colonic Cancers
  JOURNAL   Pathol Oncol Res 27, 607385 (2021)
   PUBMED   34257569
  REMARK    GeneRIF: Somatic Mutation of NLRP Genes in Gastric and Colonic
            Cancers.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 991)
  AUTHORS   Ha,H.J. and Park,H.H.
  TITLE     Crystal structure of the human NLRP9 pyrin domain reveals a bent
            N-terminal loop that may regulate inflammasome assembly
  JOURNAL   FEBS Lett 594 (15), 2396-2405 (2020)
   PUBMED   32542766
  REMARK    GeneRIF: Crystal structure of the human NLRP9 pyrin domain reveals
            a bent N-terminal loop that may regulate inflammasome assembly.
REFERENCE   3  (residues 1 to 991)
  AUTHORS   Marleaux,M., Anand,K., Latz,E. and Geyer,M.
  TITLE     Crystal structure of the human NLRP9 pyrin domain suggests a
            distinct mode of inflammasome assembly
  JOURNAL   FEBS Lett 594 (15), 2383-2395 (2020)
   PUBMED   32542665
  REMARK    GeneRIF: Crystal structure of the human NLRP9 pyrin domain suggests
            a distinct mode of inflammasome assembly.
REFERENCE   4  (residues 1 to 991)
  AUTHORS   Amoushahi,M., Steffensen,L.L., Galieva,A., Agger,J., Heuck,A.,
            Siupka,P., Ernst,E., Nielsen,M.S., Sunde,L. and Lykke-Hartmann,K.
  TITLE     Maternally contributed Nlrp9b expressed in human and mouse ovarian
            follicles contributes to early murine preimplantation development
  JOURNAL   J Assist Reprod Genet 37 (6), 1355-1365 (2020)
   PUBMED   32399794
  REMARK    GeneRIF: Maternally contributed Nlrp9b expressed in human and mouse
            ovarian follicles contributes to early murine preimplantation
            development.
REFERENCE   5  (residues 1 to 991)
  AUTHORS   Gil-Varea,E., Urcelay,E., Vilarino-Guell,C., Costa,C., Midaglia,L.,
            Matesanz,F., Rodriguez-Antiguedad,A., Oksenberg,J.,
            Espino-Paisan,L., Dessa Sadovnick,A., Saiz,A., Villar,L.M.,
            Garcia-Merino,J.A., Ramio-Torrenta,L., Trivino,J.C., Quintana,E.,
            Robles,R., Sanchez-Lopez,A., Arroyo,R., Alvarez-Cermeno,J.C.,
            Vidal-Jordana,A., Malhotra,S., Fissolo,N., Montalban,X. and
            Comabella,M.
  TITLE     Exome sequencing study in patients with multiple sclerosis reveals
            variants associated with disease course
  JOURNAL   J Neuroinflammation 15 (1), 265 (2018)
   PUBMED   30217166
  REMARK    GeneRIF: The Genetic variants located in NLRP9 have the potential
            to modulate disease course in MS patients and may be used as
            disease activity biomarkers to identify patients with divergent
            disease courses.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 991)
  AUTHORS   Zhu,S., Ding,S., Wang,P., Wei,Z., Pan,W., Palm,N.W., Yang,Y.,
            Yu,H., Li,H.B., Wang,G., Lei,X., de Zoete,M.R., Zhao,J., Zheng,Y.,
            Chen,H., Zhao,Y., Jurado,K.A., Feng,N., Shan,L., Kluger,Y., Lu,J.,
            Abraham,C., Fikrig,E., Greenberg,H.B. and Flavell,R.A.
  TITLE     Nlrp9b inflammasome restricts rotavirus infection in intestinal
            epithelial cells
  JOURNAL   Nature 546 (7660), 667-670 (2017)
   PUBMED   28636595
REFERENCE   7  (residues 1 to 991)
  CONSRTM   GENDEP Investigators; MARS Investigators; STAR*D Investigators
  TITLE     Common genetic variation and antidepressant efficacy in major
            depressive disorder: a meta-analysis of three genome-wide
            pharmacogenetic studies
  JOURNAL   Am J Psychiatry 170 (2), 207-217 (2013)
   PUBMED   23377640
REFERENCE   8  (residues 1 to 991)
  AUTHORS   Cummings,J.R., Cooney,R.M., Clarke,G., Beckly,J., Geremia,A.,
            Pathan,S., Hancock,L., Guo,C., Cardon,L.R. and Jewell,D.P.
  TITLE     The genetics of NOD-like receptors in Crohn's disease
  JOURNAL   Tissue Antigens 76 (1), 48-56 (2010)
   PUBMED   20403135
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 991)
  AUTHORS   Inohara,N. and Nunez,G.
  TITLE     NODs: intracellular proteins involved in inflammation and apoptosis
  JOURNAL   Nat Rev Immunol 3 (5), 371-382 (2003)
   PUBMED   12766759
  REMARK    Review article
REFERENCE   10 (residues 1 to 991)
  AUTHORS   Tschopp,J., Martinon,F. and Burns,K.
  TITLE     NALPs: a novel protein family involved in inflammation
  JOURNAL   Nat Rev Mol Cell Biol 4 (2), 95-104 (2003)
   PUBMED   12563287
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BK001114.1 and KC877756.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 8, 2003 this sequence version replaced NP_789790.1.
            
            Summary: The protein encoded by this gene belongs to the NALP
            protein family. Members of the NALP protein family typically
            contain a NACHT domain, a NACHT-associated domain (NAD), a
            C-terminal leucine-rich repeat (LRR) region, and an N-terminal
            pyrin domain (PYD). This protein may play a regulatory role in the
            innate immune system as similar family members belong to the
            signal-induced multiprotein complex, the inflammasome, that
            activates the pro-inflammatory caspases, caspase-1 and caspase-5.
            [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BK001114.1, BC136583.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142348 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332836.7/ ENSP00000331857.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..991
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..991
                     /product="NACHT, LRR and PYD domains-containing protein 9"
                     /note="NACHT, leucine rich repeat and PYD containing 9;
                     nucleotide-binding oligomerization domain, leucine rich
                     repeat and pyrin domain containing 9; NACHT, LRR and PYD
                     containing protein 9; PYRIN and NACHT-containing protein
                     12; nucleotide-binding oligomerization domain protein 6"
                     /calculated_mol_wt=113182
     Region          11..93
                     /region_name="Pyrin_NALPs"
                     /note="Pyrin death domain found in NALP proteins; cd08320"
                     /db_xref="CDD:260032"
     Region          146..314
                     /region_name="NACHT"
                     /note="NACHT domain; pfam05729"
                     /db_xref="CDD:428606"
     Region          392..440
                     /region_name="NOD2_WH"
                     /note="NOD2 winged helix domain; pfam17779"
                     /db_xref="CDD:465501"
     Region          445..560
                     /region_name="NLRC4_HD2"
                     /note="NLRC4 helical domain HD2; pfam17776"
                     /db_xref="CDD:465499"
     Region          622..897
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Site            order(632,635,637,638,640,661,664,666,669,671,687,690,692,
                     695,697,716,719,721,724,726,744,747,749,752,754,773,776,
                     778,781,783,801,804,806,809,811,830,833,835,838,840,858,
                     861,863,866,868,887,890,892,895,897)
                     /site_type="active"
                     /note="Leucine-rich repeats [active]"
                     /db_xref="CDD:238064"
     Site            order(668,723,751,808,834,836,862,891)
                     /site_type="other"
                     /note="Substrate binding site [chemical binding]"
                     /db_xref="CDD:238064"
     Region          743..763
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTR0.1)"
     Region          772..793
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTR0.1)"
     Region          800..820
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTR0.1)"
     Region          829..850
                     /region_name="LRR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTR0.1)"
     Region          857..877
                     /region_name="LRR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTR0.1)"
     Region          886..907
                     /region_name="LRR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTR0.1)"
     CDS             1..991
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /coded_by="NM_176820.4:29..3004"
                     /db_xref="CCDS:CCDS12934.1"
                     /db_xref="GeneID:338321"
                     /db_xref="HGNC:HGNC:22941"
                     /db_xref="MIM:609663"
ORIGIN      
        1 maesffsdfg llwylkelrk eefwkfkell kqplekfelk pipwaelkka skedvaklld
       61 khypgkqawe vtlnlflqin rkdlwtkaqe emrnklnpyr khmketfqli weketclhvp
      121 ehfyketmkn eykelndayt aaarrhtvvl egpdgigktt llrkvmldwa egnlwkdrft
      181 fvfflnvcem ngiaetslle llsrdwpess ekiedifsqp erilfimdgf eqlkfnlqlk
      241 adlsddwrqr qpmpiilssl lqkkmlpess llialgklam qkhyfmlrhp klikllgfse
      301 sekksyfsyf fgekskalkv fnfvrdngpl filchnpftc wlvctcvkqr lergedlein
      361 sqnttylyas flttvfkags qsfppkvnra rlkslcalaa egiwtytfvf shgdlrrngl
      421 sesegvmwvg mrllqrrgdc fafmhlciqe fcaamfyllk rpkddpnpai gsitqlvras
      481 vvqpqtlltq vgifmfgist eeivsmlets fgfplskdlk qeitqclesl sqceadreai
      541 afqelfiglf etqekefvtk vmnffeevfi yigniehlvi asfclkhcqh lttlrmcven
      601 ifpddsgcis dyneklvywr elcsmfitnk nfqildment slddpslail ckalaqpvck
      661 lrkliftsvy fghdselfka vlhnphlkll slygtslsqs dirhlcetlk hpmckieeli
      721 lgkcdissev cediasvlac nsklkhlslv enplrdegmt llcealkhsh calerlmlmy
      781 ccltsvscds isevllcsks lslldlgsna ledngvaslc aalkhpgcsi relwlmgcfl
      841 tsdsckdiaa vlicngklkt lklghneigd tgvrqlcaal qhphcklecl glqtcpitra
      901 ccddiaaali acktlrslnl dwialdadav vvlcealshp dcalqmlglh ksgfdeetqk
      961 ilmsveekip hltishgpwi deeykirgvl l
//
