LOCUS       NM_176820               3478 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens NLR family pyrin domain containing 9 (NLRP9), mRNA.
ACCESSION   NM_176820
VERSION     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  (bases 1 to 3478)
  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  (bases 1 to 3478)
  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  (bases 1 to 3478)
  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  (bases 1 to 3478)
  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  (bases 1 to 3478)
  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  (bases 1 to 3478)
  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  (bases 1 to 3478)
  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  (bases 1 to 3478)
  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  (bases 1 to 3478)
  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 (bases 1 to 3478)
  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 May 17, 2019 this sequence version replaced NM_176820.3.
            
            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##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1953              BK001114.1         1-1953
            1954-1954           KC877756.1         286-286
            1955-3478           BK001114.1         1955-3478
FEATURES             Location/Qualifiers
     source          1..3478
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..3478
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /note="NLR family pyrin domain containing 9"
                     /db_xref="GeneID:338321"
                     /db_xref="HGNC:HGNC:22941"
                     /db_xref="MIM:609663"
     exon            1..308
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..3004
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /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"
                     /codon_start=1
                     /product="NACHT, LRR and PYD domains-containing protein 9"
                     /protein_id="NP_789790.2"
                     /db_xref="CCDS:CCDS12934.1"
                     /db_xref="GeneID:338321"
                     /db_xref="HGNC:HGNC:22941"
                     /db_xref="MIM:609663"
                     /translation="MAESFFSDFGLLWYLKELRKEEFWKFKELLKQPLEKFELKPIPW
                     AELKKASKEDVAKLLDKHYPGKQAWEVTLNLFLQINRKDLWTKAQEEMRNKLNPYRKH
                     MKETFQLIWEKETCLHVPEHFYKETMKNEYKELNDAYTAAARRHTVVLEGPDGIGKTT
                     LLRKVMLDWAEGNLWKDRFTFVFFLNVCEMNGIAETSLLELLSRDWPESSEKIEDIFS
                     QPERILFIMDGFEQLKFNLQLKADLSDDWRQRQPMPIILSSLLQKKMLPESSLLIALG
                     KLAMQKHYFMLRHPKLIKLLGFSESEKKSYFSYFFGEKSKALKVFNFVRDNGPLFILC
                     HNPFTCWLVCTCVKQRLERGEDLEINSQNTTYLYASFLTTVFKAGSQSFPPKVNRARL
                     KSLCALAAEGIWTYTFVFSHGDLRRNGLSESEGVMWVGMRLLQRRGDCFAFMHLCIQE
                     FCAAMFYLLKRPKDDPNPAIGSITQLVRASVVQPQTLLTQVGIFMFGISTEEIVSMLE
                     TSFGFPLSKDLKQEITQCLESLSQCEADREAIAFQELFIGLFETQEKEFVTKVMNFFE
                     EVFIYIGNIEHLVIASFCLKHCQHLTTLRMCVENIFPDDSGCISDYNEKLVYWRELCS
                     MFITNKNFQILDMENTSLDDPSLAILCKALAQPVCKLRKLIFTSVYFGHDSELFKAVL
                     HNPHLKLLSLYGTSLSQSDIRHLCETLKHPMCKIEELILGKCDISSEVCEDIASVLAC
                     NSKLKHLSLVENPLRDEGMTLLCEALKHSHCALERLMLMYCCLTSVSCDSISEVLLCS
                     KSLSLLDLGSNALEDNGVASLCAALKHPGCSIRELWLMGCFLTSDSCKDIAAVLICNG
                     KLKTLKLGHNEIGDTGVRQLCAALQHPHCKLECLGLQTCPITRACCDDIAAALIACKT
                     LRSLNLDWIALDADAVVVLCEALSHPDCALQMLGLHKSGFDEETQKILMSVEEKIPHL
                     TISHGPWIDEEYKIRGVLL"
     exon            309..1860
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /inference="alignment:Splign:2.1.0"
     exon            1861..2022
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /inference="alignment:Splign:2.1.0"
     exon            2023..2187
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /inference="alignment:Splign:2.1.0"
     exon            2188..2358
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /inference="alignment:Splign:2.1.0"
     exon            2359..2529
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /inference="alignment:Splign:2.1.0"
     exon            2530..2700
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /inference="alignment:Splign:2.1.0"
     exon            2701..2871
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /inference="alignment:Splign:2.1.0"
     exon            2872..3478
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3459..3464
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /note="hexamer: AATAAA"
     polyA_site      3478
                     /gene="NLRP9"
                     /gene_synonym="CLR19.1; NALP9; NOD6; PAN12"
                     /note="major polyA site"
ORIGIN      
        1 acacctcagt tcacaatcct ggggcgatat ggcagaatct tttttttcgg attttggctt
       61 gttgtggtat ctgaaggagc tcagaaagga agagttttgg aaatttaagg agctcctcaa
      121 acaacctttg gagaaatttg aactcaagcc aatcccctgg gctgagctga agaaggcctc
      181 caaagaagat gtagcaaagc tgctggacaa acattaccca ggaaagcagg catgggaggt
      241 aacactgaac ctgtttctac agatcaatag gaaagatctc tggacaaagg ctcaggaaga
      301 gatgagaaat aagctaaacc catacagaaa gcatatgaag gaaacatttc aactcatatg
      361 ggagaaggaa acctgtcttc acgtccctga gcatttctac aaagaaacca tgaaaaatga
      421 gtataaagaa ttgaatgacg catatactgc tgcggctaga cgacacactg tggtcctgga
      481 aggtcctgat ggaattggaa aaacaaccct tttaagaaaa gtgatgttgg actgggcaga
      541 gggaaactta tggaaggaca ggttcacatt tgtgtttttc ctcaatgtct gtgaaatgaa
      601 cggtatcgca gagaccagct tactggagct cctctctagg gactggccgg agtcttcaga
      661 gaagatcgaa gacatttttt cccagccaga gagaattctg ttcatcatgg atggctttga
      721 gcaactgaag tttaacttac aacttaaggc tgacttgagc gatgattgga ggcagcggca
      781 gccaatgcca attatcctga gcagtttgtt gcaaaaaaag atgcttccag aatcctctct
      841 ccttattgca ttaggaaaac tggctatgca aaaacactat tttatgttgc ggcatccaaa
      901 actcataaag ctcttaggat tcagtgaatc tgaaaagaag tcgtatttct cctacttctt
      961 tggtgagaag agcaaagccc tgaaagtctt caattttgtg agagataatg ggccgctgtt
     1021 tatcttgtgc cataatccct ttacgtgctg gttggtctgt acttgtgtga aacagaggct
     1081 agagagggga gaagaccttg aaataaactc ccaaaacacc acctatttat atgcatcctt
     1141 tttaacaact gtattcaaag caggaagtca gagttttcca cctaaggtga acagagcccg
     1201 actaaaaagc ctgtgtgctt tggctgcaga gggaatttgg acatatacat ttgtattttc
     1261 ccatggggat ctccggagga atgggttatc tgagtctgag ggcgtgatgt gggtgggtat
     1321 gagactcctc caaaggagag gggactgttt tgccttcatg catctgtgta tccaagagtt
     1381 ttgtgccgcc atgttttatt tgctcaaacg acccaaagac gatcctaacc cggccattgg
     1441 aagcataacc cagcttgtaa gagcaagtgt ggttcagcct caaaccctct tgacccaggt
     1501 ggggatattc atgtttggaa tttcaacaga agaaatcgtc agcatgctgg agacctcctt
     1561 tggttttcca ctgtcaaaag acctaaagca ggaaataacc caatgccttg aaagtttaag
     1621 tcaatgtgaa gctgataggg aagccatagc tttccaggaa ctattcattg gtttgtttga
     1681 aactcaggaa aaagaatttg taaccaaagt gatgaatttc tttgaagaag ttttcattta
     1741 tattggtaac atagaacatt tggtaatagc ttcattctgc ctgaagcatt gtcaacattt
     1801 aacgacactt cgcatgtgtg tggagaatat ctttccagat gactcaggat gcatctcaga
     1861 ttacaatgag aagctcgtct actggcggga gctttgctca atgttcatta ccaacaagaa
     1921 cttccagatt ttagacatgg aaaataccag cctcgatgat ccctccctgg cgattctttg
     1981 caaagcgctg gctcagcctg tttgtaaact ccgaaaactc atatttactt ctgtgtactt
     2041 tggacatgat tcagaattat ttaaggcagt tcttcacaac cctcatctga aacttctgag
     2101 cctgtacggc actagcctct cccagtctga catcagacac ctgtgtgaga cgctgaaaca
     2161 tccaatgtgc aagatagaag agctgatact gggaaagtgt gacatctcca gtgaagtttg
     2221 tgaagacatc gcctccgtcc tggcctgcaa cagcaagctg aaacacctct ccttggtaga
     2281 aaatcccttg agggacgaag gaatgacgtt gctgtgtgaa gccctgaagc actcacactg
     2341 tgccctggag aggctgatgt tgatgtactg ctgtctcacc tctgtctcct gtgactccat
     2401 ttccgaagtc ctcttgtgca gtaagtccct gtccctcctc gatctgggct caaatgccct
     2461 ggaagataat ggagtggcat ctctgtgtgc agcgctgaag cacccaggct gcagcatacg
     2521 ggagctgtgg ttgatgggct gtttccttac ttccgattcc tgtaaggaca ttgctgctgt
     2581 tcttatttgc aatgggaaac tgaagaccct gaaacttggg cataatgaaa taggagacac
     2641 tggtgtcaga cagttatgtg cagctttgca gcatcctcac tgtaaattag agtgtctcgg
     2701 gctgcaaacg tgtccgatca cccgtgcctg ctgcgacgac atcgccgcag cactcatcgc
     2761 ctgcaaaaca ctgaggagcc tgaacctcga ctggattgcc ttggatgctg atgcagtggt
     2821 ggtgctgtgt gaggcattga gccacccgga ctgtgccctg cagatgctgg ggctgcacaa
     2881 atctggcttt gatgaagaaa ctcagaagat cctgatgtct gtggaagaaa aaattcccca
     2941 tctgaccatt tcacatggac cttggattga cgaggaatac aagatcaggg gtgtgctcct
     3001 ctgatgggga acaccctgaa gtagtcgtct cacaaaggct ttccttggcc acagtgggac
     3061 cttcacctgg cacctctatc ctgtaattgc acatcatggc agcagggctg tgatttcaga
     3121 ggtactccct aagtgttcta gcaatatgat tatggagtgt gattcagtgt acatgctgat
     3181 tgtctttgcc tcggtcctat atccccttgt ctttagaaat cccatcctgc cttgtgatat
     3241 ttagaagcac aagtacgtta aacaagtgct aaacgctctg gaaagcatgg ctttattttc
     3301 ttaatggatg tcttggtgtg taggagcatg catttgtagg caccacaatc cggatacttc
     3361 tgacacagaa gtgatgctag aatgtgtcta tagattgtat tgctagcatc cagactttct
     3421 agtttgtcca gatttcgatt tgatcaattt tcttgtccaa taaaaaagca tttccaaa
//
