LOCUS       NM_144687               3634 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens NLR family pyrin domain containing 12 (NLRP12),
            transcript variant 2, mRNA.
ACCESSION   NM_144687
VERSION     NM_144687.4
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 3634)
  AUTHORS   Huang,Y., Xu,L., Yang,Q., Xiao,X., Ye,Z., Li,R., Guan,Y. and Wu,X.
  TITLE     NLRP12 c.1382dup promotes the development of Crohn's disease
            through the ERK/NLRP3/ IL-1beta pathway
  JOURNAL   Gene 931, 148855 (2024)
   PUBMED   39181275
  REMARK    GeneRIF: NLRP12 c.1382dup promotes the development of Crohn's
            disease through the ERK/NLRP3/ IL-1beta pathway.
REFERENCE   2  (bases 1 to 3634)
  AUTHORS   Coombs,J.R., Zamoshnikova,A., Holley,C.L., Maddugoda,M.P.,
            Teo,D.E.T., Chauvin,C., Poulin,L.F., Vitak,N., Ross,C.M.,
            Mellacheruvu,M., Coll,R.C., Heinz,L.X., Burgener,S.S., Emming,S.,
            Chamaillard,M., Boucher,D. and Schroder,K.
  TITLE     NLRP12 interacts with NLRP3 to block the activation of the human
            NLRP3 inflammasome
  JOURNAL   Sci Signal 17 (820), eabg8145 (2024)
   PUBMED   38261657
  REMARK    GeneRIF: NLRP12 interacts with NLRP3 to block the activation of the
            human NLRP3 inflammasome.
REFERENCE   3  (bases 1 to 3634)
  AUTHORS   Higuchi,T., Oka,S., Furukawa,H. and Tohma,S.
  TITLE     The contributions of deleterious rare alleles in NLRP12 and
            inflammasome-related genes to polymyalgia rheumatica
  JOURNAL   Sci Rep 14 (1), 490 (2024)
   PUBMED   38177227
  REMARK    GeneRIF: The contributions of deleterious rare alleles in NLRP12
            and inflammasome-related genes to polymyalgia rheumatica.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3634)
  AUTHORS   Miao,J., Zhang,J., Huang,X., Wu,N., Wu,D. and Shen,M.
  TITLE     NLRP12-associated autoinflammatory disease in Chinese adult
            patients: a single-centre study
  JOURNAL   RMD Open 9 (4), e003598 (2023)
   PUBMED   38123482
  REMARK    GeneRIF: NLRP12-associated autoinflammatory disease in Chinese
            adult patients: a single-centre study.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3634)
  AUTHORS   Lich,J.D., Williams,K.L., Moore,C.B., Arthur,J.C., Davis,B.K.,
            Taxman,D.J. and Ting,J.P.
  TITLE     Monarch-1 suppresses non-canonical NF-kappaB activation and
            p52-dependent chemokine expression in monocytes
  JOURNAL   J Immunol 178 (3), 1256-1260 (2007)
   PUBMED   17237370
  REMARK    GeneRIF: Monarch-1 inhibits CD40-mediated activation of NF-kappaB
            via the non-canonical pathway in human monocytes. This inhibition
            stems from the ability of Monarch-1 to associate with and induce
            proteasome-mediated degradation of NF-kappaB inducing kinase
REFERENCE   6  (bases 1 to 3634)
  AUTHORS   Williams,K.L., Lich,J.D., Duncan,J.A., Reed,W., Rallabhandi,P.,
            Moore,C., Kurtz,S., Coffield,V.M., Accavitti-Loper,M.A., Su,L.,
            Vogel,S.N., Braunstein,M. and Ting,J.P.
  TITLE     The CATERPILLER protein monarch-1 is an antagonist of toll-like
            receptor-, tumor necrosis factor alpha-, and Mycobacterium
            tuberculosis-induced pro-inflammatory signals
  JOURNAL   J Biol Chem 280 (48), 39914-39924 (2005)
   PUBMED   16203735
  REMARK    GeneRIF: Monarch-1 associates with IRAK-1 but not MyD88, resulting
            in the blockage of IRAK-1 hyperphosphorylation
REFERENCE   7  (bases 1 to 3634)
  AUTHORS   Williams,K.L., Taxman,D.J., Linhoff,M.W., Reed,W. and Ting,J.P.
  TITLE     Cutting edge: Monarch-1: a pyrin/nucleotide-binding
            domain/leucine-rich repeat protein that controls classical and
            nonclassical MHC class I genes
  JOURNAL   J Immunol 170 (11), 5354-5358 (2003)
   PUBMED   12759408
  REMARK    GeneRIF: Monarch-1 enhances nonclassical and classical major
            histocompatibility complex class I expression at the level of the
            promoter, RNA, and protein expression.
REFERENCE   8  (bases 1 to 3634)
  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
REFERENCE   9  (bases 1 to 3634)
  AUTHORS   Wang,L., Manji,G.A., Grenier,J.M., Al-Garawi,A., Merriam,S.,
            Lora,J.M., Geddes,B.J., Briskin,M., DiStefano,P.S. and Bertin,J.
  TITLE     PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates
            activation of NF-kappa B and caspase-1-dependent cytokine
            processing
  JOURNAL   J Biol Chem 277 (33), 29874-29880 (2002)
   PUBMED   12019269
  REMARK    GeneRIF: regulates activation of NF-kappa B and caspase-1-dependent
            cytokine processing
REFERENCE   10 (bases 1 to 3634)
  AUTHORS   Shami,P.J., Kanai,N., Wang,L.Y., Vreeke,T.M. and Parker,C.H.
  TITLE     Identification and characterization of a novel gene that is
            upregulated in leukaemia cells by nitric oxide
  JOURNAL   Br J Haematol 112 (1), 138-147 (2001)
   PUBMED   11167794
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY154467.1, AC008753.9 and
            BC028069.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 19, 2019 this sequence version replaced NM_144687.3.
            
            Summary: This gene encodes a member of the CATERPILLER family of
            cytoplasmic proteins. The encoded protein, which contains an
            N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain,
            and a C-terminus leucine-rich repeat region, functions as an
            attenuating factor of inflammation by suppressing inflammatory
            responses in activated monocytes. Mutations in this gene cause
            familial cold autoinflammatory syndrome type 2. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Mar 2013].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the central coding region, compared to variant 3, resulting in
            an isoform (2) that is 1 aa shorter than isoform 3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY154467.1, AY095146.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324134.11/ ENSP00000319377.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2533              AY154467.1         37-2569
            2534-2534           AC008753.9         74032-74032         c
            2535-2608           AY154467.1         2571-2644
            2609-3491           BC028069.1         2588-3470
            3492-3634           AY154467.1         3528-3670
FEATURES             Location/Qualifiers
     source          1..3634
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..3634
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /note="NLR family pyrin domain containing 12"
                     /db_xref="GeneID:91662"
                     /db_xref="HGNC:HGNC:22938"
                     /db_xref="MIM:609648"
     exon            1..429
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /inference="alignment:Splign:2.1.0"
     CDS             141..3326
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     nucleotide-binding oligomerization domain, leucine rich
                     repeat and pyrin domain containing 12; NACHT, LRR and PYD
                     domains-containing protein 12; PYRIN-containing APAF1-like
                     protein 7; monarch 1; regulated by nitric oxide"
                     /codon_start=1
                     /product="NACHT, LRR and PYD domains-containing protein 12
                     isoform 2"
                     /protein_id="NP_653288.1"
                     /db_xref="CCDS:CCDS12864.1"
                     /db_xref="GeneID:91662"
                     /db_xref="HGNC:HGNC:22938"
                     /db_xref="MIM:609648"
                     /translation="MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELGEGKIP
                     WGSMEKAGPLEMAQLLITHFGPEEAWRLALSTFERINRKDLWERGQREDLVRDTPPGG
                     PSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRL
                     LLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGA
                     AGIGKSMLAHKVMLDWADGKLFQGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPS
                     APLQELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPTELLLNSLIRKKLLP
                     ELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVR
                     DNEPLFTMCFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAP
                     RLQPPPNQRGLCSLAADGLWNQKILFEEQDLRKHGLDGEDVSAFLNMNIFQKDINCER
                     YYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTSRFLFGL
                     LNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEE
                     FIQQALSHFQVIVVSNIASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSA
                     GAHTLLVQLPERTVLLDAYSEHLAAALCTNPNLIELSLYRNALGSRGVKLLCQGLRHP
                     NCKLQNLRLKRCRISSSACEDLSAALIANKNLTRMDLSGNGVGFPGMMLLCEGLRHPQ
                     CRLQMIQLRKCQLESGACQEMASVLGTNPHLVELDLTGNALEDLGLRLLCQGLRHPVC
                     RLRTLWLKICRLTAAACDELASTLSVNQSLRELDLSLNELGDLGVLLLCEGLRHPTCK
                     LQTLRLGICRLGSAACEGLSVVLQANHNLRELDLSFNDLGDWGLWLLAEGLQHPACRL
                     QKLWLDSCGLTAKACENLYFTLGINQTLTDLYLTNNALGDTGVRLLCKRLSHPGCKLR
                     VLWLFGMDLNKMTHSRLAALRVTKPYLDIGC"
     exon            430..510
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            511..2212
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2213..2383
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2384..2554
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2555..2725
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2726..2896
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2897..3067
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            3068..3238
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /inference="alignment:Splign:2.1.0"
     exon            3239..3634
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3612..3617
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /note="hexamer: AATAAA"
     polyA_site      3634
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /note="major polyA site"
ORIGIN      
        1 tctcctccaa ccactggctc agcctctccg cccgctgcct gtgaatgatg caatggaagg
       61 tgtgctgggg tcgccctgtg tcccgtgcat aggagcatct cagcctccag gtcctctcct
      121 ttggggctca cggcaccccc atgctacgaa ccgcaggcag ggacggcctc tgtcgcctgt
      181 ccacctactt ggaagaactc gaggctgtgg aactgaagaa gttcaagtta tacctgggga
      241 ccgcgacaga gctgggagaa ggcaagatcc cctggggaag catggagaag gccggtcccc
      301 tggaaatggc ccagctgctc atcacccact tcgggccaga ggaggcctgg aggttggctc
      361 tcagcacctt tgagcggata aacaggaagg acctgtggga gagaggacag agagaggacc
      421 tggtgaggga taccccacct ggtggcccgt cctcacttgg gaaccagtca acatgccttc
      481 tggaagtctc tcttgtcact ccaagaaaag atccccagga aacctacagg gactatgtcc
      541 gcaggaaatt ccggctcatg gaagaccgca atgcgcgcct aggggaatgt gtcaacctca
      601 gccaccggta cacccggctc ctgctggtga aggagcactc aaaccccatg caggtccagc
      661 agcagcttct ggacacaggc cggggacacg cgaggaccgt gggacaccag gctagcccca
      721 tcaagataga gaccctcttt gagccagacg aggagcgccc cgagccaccg cgcaccgtgg
      781 tcatgcaagg cgcggcaggg ataggcaagt ccatgctggc acacaaggtg atgctggact
      841 gggcggacgg gaagctcttc caaggcagat ttgattatct cttctacatc aactgcaggg
      901 agatgaacca gagtgccacg gaatgcagca tgcaagacct catcttcagc tgctggcctg
      961 agcccagcgc gcctctccag gagctcatcc gagttcccga gcgcctcctt ttcatcatcg
     1021 acggcttcga tgagctcaag ccttctttcc acgatcctca gggaccctgg tgcctctgct
     1081 gggaggagaa acggcccacg gagctgcttc ttaacagctt aattcggaag aagctgctcc
     1141 ctgagctatc tttgctcatc accacacggc ccacggcttt ggagaagctc caccgtctgc
     1201 tggagcaccc caggcatgtg gagatcctgg gcttctctga ggcagaaagg aaggaatact
     1261 tctacaagta tttccacaat gcagagcagg cgggccaagt cttcaattac gtgagggaca
     1321 acgagcctct cttcaccatg tgcttcgtcc ccctggtgtg ctgggtggtg tgtacctgcc
     1381 tccagcagca gctggagggt ggggggctgt tgagacagac gtccaggacc accactgcag
     1441 tgtacatgct ctacctgctg agtctgatgc aacccaagcc gggggccccg cgcctccagc
     1501 ccccacccaa ccagagaggg ttgtgctcct tggcggcaga tgggctctgg aatcagaaaa
     1561 tcctatttga ggagcaggac ctccggaagc acggcctaga cggggaagac gtctctgcct
     1621 tcctcaacat gaacatcttc cagaaggaca tcaactgtga gaggtactac agcttcatcc
     1681 acttgagttt ccaggaattc tttgcagcta tgtactatat cctggacgag ggggagggcg
     1741 gggcaggccc agaccaggac gtgaccaggc tgttgaccga gtacgcgttt tctgaaagga
     1801 gcttcctggc actcaccagc cgcttcctgt ttggactcct gaacgaggag accaggagcc
     1861 acctggagaa gagtctctgc tggaaggtct cgccgcacat caagatggac ctgttgcagt
     1921 ggatccaaag caaagctcag agcgacggct ccaccctgca gcagggctcc ttggagttct
     1981 tcagctgctt gtacgagatc caggaggagg agtttatcca gcaggccctg agccacttcc
     2041 aggtgatcgt ggtcagcaac attgcctcca agatggagca catggtctcc tcgttctgtc
     2101 tgaagcgctg caggagcgcc caggtgctgc acttgtatgg cgccacctac agcgcggacg
     2161 gggaagaccg cgcgaggtgc tccgcaggag cgcacacgct gttggtgcag ctaccagaga
     2221 ggaccgttct gctggacgcc tacagtgaac atctggcagc ggccctgtgc accaatccaa
     2281 acctgataga gctgtctctg taccgaaatg ccctgggcag ccggggggtg aagctgctct
     2341 gtcaaggact cagacacccc aactgcaaac ttcagaacct gaggctgaag aggtgccgca
     2401 tctccagctc agcctgcgag gacctctctg cagctctcat agccaataag aatttgacaa
     2461 ggatggatct cagtggcaac ggcgttggat tcccaggcat gatgctgctt tgcgagggcc
     2521 tgcggcatcc ccagtgcagg ctgcagatga ttcagttgag gaagtgtcag ctggagtccg
     2581 gggcttgtca ggagatggct tctgtgctcg gcaccaaccc acatctggtt gagttggacc
     2641 tgacaggaaa tgcactggag gatttgggcc tgaggttact atgccaggga ctgaggcacc
     2701 cagtctgcag actacggact ttgtggctga agatctgccg cctcactgct gctgcctgtg
     2761 acgagctggc ctcaactctc agtgtgaacc agagcctgag agagctggac ctgagcctga
     2821 atgagctggg ggacctcggg gtgctgctgc tgtgtgaggg cctcaggcat cccacgtgca
     2881 agctccagac cctgcggttg ggcatctgcc ggctgggctc tgccgcctgt gagggtcttt
     2941 ctgtggtgct ccaggccaac cacaacctcc gggagctgga cttgagtttc aacgacctgg
     3001 gagactgggg cctgtggttg ctggctgagg ggctgcaaca tcccgcctgc agactccaga
     3061 aactgtggct ggatagctgt ggcctcacag ccaaggcttg tgagaatctt tacttcaccc
     3121 tggggatcaa ccagaccttg accgaccttt acctgaccaa caacgcccta ggggacacag
     3181 gtgtccgact gctttgcaag cggctgagcc atcctggctg caaactccga gtcctctggt
     3241 tatttgggat ggacctgaat aaaatgaccc acagtaggtt ggcagcgctt cgagtaacaa
     3301 aaccttattt ggacattggc tgctgaatgg tcctatctgc tggctctccc ctgagatctg
     3361 gacagaggaa gatgggaggg tgctcatcac ccccccagca taatgatcag cctccttcct
     3421 agagacagac tcatgcagat tgagatcaaa agtccctctg cttgggatca aattaatgtt
     3481 tgacagagct ggccaggcgt ggtggctcat gtatgtaatc ctagcacttc gagaggccga
     3541 ggcaggtgga tcacgaggtc aggagtttga gattagcctg gccaagatgg tgaaaccctg
     3601 tctctactaa aaataaaaaa aaattagcca ggca
//
