LOCUS       NM_001243133            4187 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens NLR family pyrin domain containing 3 (NLRP3),
            transcript variant 6, mRNA.
ACCESSION   NM_001243133
VERSION     NM_001243133.2
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 4187)
  AUTHORS   Gao,K., Liu,Y., Sun,C., Wang,Y., Bao,H., Liu,G., Ou,J. and Sun,P.
  TITLE     TNF-a induces mitochondrial dysfunction to drive
            NLRP3/Caspase-1/GSDMD-mediated pyroptosis in MCF-7 cells
  JOURNAL   Sci Rep 14 (1), 25880 (2024)
   PUBMED   39468189
  REMARK    GeneRIF: TNF-a induces mitochondrial dysfunction to drive
            NLRP3/Caspase-1/GSDMD-mediated pyroptosis in MCF-7 cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4187)
  AUTHORS   Jabeen,A., Riaz,S., Usman,M., Parveen,A., Mukhtar,M., Wajid,A.,
            Hanif,A. and Batool,A.
  TITLE     Association of polymorphism of NLRP3, ICAM-1, PTPN22, INS genes in
            childhood onset type 1 diabetes in a Pakistani population
  JOURNAL   Mol Biol Rep 51 (1), 1070 (2024)
   PUBMED   39425874
  REMARK    GeneRIF: Association of polymorphism of NLRP3, ICAM-1, PTPN22, INS
            genes in childhood onset type 1 diabetes in a Pakistani population.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4187)
  AUTHORS   Li,Q. and Mu,S.
  TITLE     FTO mediates the diabetic kidney disease progression through
            regulating the m6A modification of NLRP3
  JOURNAL   BMC Nephrol 25 (1), 345 (2024)
   PUBMED   39390397
  REMARK    GeneRIF: FTO mediates the diabetic kidney disease progression
            through regulating the m[6]A modification of NLRP3.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4187)
  AUTHORS   Chen,I.Y., Moriyama,M., Chang,M.F. and Ichinohe,T.
  TITLE     Severe Acute Respiratory Syndrome Coronavirus Viroporin 3a
            Activates the NLRP3 Inflammasome
  JOURNAL   Front Microbiol 10, 50 (2019)
   PUBMED   30761102
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4187)
  AUTHORS   Hoffman,H.M., Gregory,S.G., Mueller,J.L., Tresierras,M.,
            Broide,D.H., Wanderer,A.A. and Kolodner,R.D.
  TITLE     Fine structure mapping of CIAS1: identification of an ancestral
            haplotype and a common FCAS mutation, L353P
  JOURNAL   Hum Genet 112 (2), 209-216 (2003)
   PUBMED   12522564
  REMARK    GeneRIF: a single heterozygous missense mutation (T1058C=L353P) in
            exon 3 of CIAS1 in all four families that is responsible for the
            large majority of FCAS cases
REFERENCE   6  (bases 1 to 4187)
  AUTHORS   Feldmann,J., Prieur,A.M., Quartier,P., Berquin,P., Certain,S.,
            Cortis,E., Teillac-Hamel,D., Fischer,A. and de Saint Basile,G.
  TITLE     Chronic infantile neurological cutaneous and articular syndrome is
            caused by mutations in CIAS1, a gene highly expressed in
            polymorphonuclear cells and chondrocytes
  JOURNAL   Am J Hum Genet 71 (1), 198-203 (2002)
   PUBMED   12032915
  REMARK    GeneRIF: Chronic infantile neurological cutaneous and articular
            syndrome is caused by mutations in CIAS1, a gene highly expressed
            in polymorphonuclear cells and chondrocytes.
REFERENCE   7  (bases 1 to 4187)
  AUTHORS   Manji,G.A., Wang,L., Geddes,B.J., Brown,M., Merriam,S.,
            Al-Garawi,A., Mak,S., Lora,J.M., Briskin,M., Jurman,M., Cao,J.,
            DiStefano,P.S. and Bertin,J.
  TITLE     PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with
            ASC and regulates activation of NF-kappa B
  JOURNAL   J Biol Chem 277 (13), 11570-11575 (2002)
   PUBMED   11786556
REFERENCE   8  (bases 1 to 4187)
  AUTHORS   Hoffman,H.M., Mueller,J.L., Broide,D.H., Wanderer,A.A. and
            Kolodner,R.D.
  TITLE     Mutation of a new gene encoding a putative pyrin-like protein
            causes familial cold autoinflammatory syndrome and Muckle-Wells
            syndrome
  JOURNAL   Nat Genet 29 (3), 301-305 (2001)
   PUBMED   11687797
REFERENCE   9  (bases 1 to 4187)
  AUTHORS   Hoffman,H.M., Wright,F.A., Broide,D.H., Wanderer,A.A. and
            Kolodner,R.D.
  TITLE     Identification of a locus on chromosome 1q44 for familial cold
            urticaria
  JOURNAL   Am J Hum Genet 66 (5), 1693-1698 (2000)
   PUBMED   10741953
REFERENCE   10 (bases 1 to 4187)
  AUTHORS   Alva Quinones,J.
  TITLE     [Profanities and the profane person]
  JOURNAL   Acta Psiquiatr Psicol Am Lat 21 (2), 90-94 (1975)
   PUBMED   1189953
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Hal M. Hoffman. The reference sequence was
            derived from AC104335.2, AF427617.1 and AF410477.1.
            
            On Dec 17, 2019 this sequence version replaced NM_001243133.1.
            
            Summary: This gene encodes a pyrin-like protein containing a pyrin
            domain, a nucleotide-binding site (NBS) domain, and a leucine-rich
            repeat (LRR) motif. This protein interacts with the
            apoptosis-associated speck-like protein PYCARD/ASC, which contains
            a caspase recruitment domain, and is a member of the NLRP3
            inflammasome complex. This complex functions as an upstream
            activator of NF-kappaB signaling, and it plays a role in the
            regulation of inflammation, the immune response, and apoptosis. The
            SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has
            been shown to activate the NLRP3 inflammasome via the formation of
            ion channels in macrophages. Mutations in this gene are associated
            with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells
            syndrome (MWS), chronic infantile neurological cutaneous and
            articular (CINCA) syndrome, neonatal-onset multisystem inflammatory
            disease (NOMID), keratoendotheliitis fugax hereditarian, and
            deafness, autosomal dominant 34, with or without inflammation.
            Multiple alternatively spliced transcript variants encoding
            distinct isoforms have been identified for this gene. Alternative
            5' UTR structures are suggested by available data; however,
            insufficient evidence is available to determine if all of the
            represented 5' UTR splice patterns are biologically valid.
            [provided by RefSeq, Aug 2020].
            
            Transcript Variant: This variant (6) represents the longest
            transcript and encodes isoform e. Variants 1 and 6 represent the
            same transcript but use different translation start sites since
            both sites are likely used. The encoded isoform (e) uses the most
            conserved translation start site. Both variants 3 and 6 encode the
            same isoform (e).
            
            Sequence Note: The RefSeq record was created from transcript and
            genomic sequence data. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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##
            CDS exon combination :: AF468522.1, BC143362.1 [ECO:0000331]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: community standard
                                                (PMID:11687797)
            coronavirus related              :: involved in cytokine storm
                                                inflammatory response
            MANE Ensembl match               :: ENST00000336119.8/
                                                ENSP00000337383.4
            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
            1-21                AC104335.2         184616-184636
            22-190              AF427617.1         5-173
            191-695             AC104335.2         186665-187169
            696-1548            AF410477.1         679-1531
            1549-1549           AC104335.2         192672-192672
            1550-4187           AF410477.1         1533-4170
FEATURES             Location/Qualifiers
     source          1..4187
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..4187
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /note="NLR family pyrin domain containing 3"
                     /db_xref="GeneID:114548"
                     /db_xref="HGNC:HGNC:16400"
                     /db_xref="MIM:606416"
     exon            1..21
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            22..1046
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..1166
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1167..2919
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            2920..3090
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            3091..3261
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            3262..3432
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            3433..3603
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            3604..3774
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            3775..4187
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4166..4171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /note="hexamer: AATAAA"
     polyA_site      4187
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /note="major polyA site"
ORIGIN      
        1 gttcctgagg ctggcatctg gatgaggaaa ctgaagttga ggaatagtga agagtttgtc
       61 caatgtcata gccccgtaat caacgggaca aaaattttct tgctgatggg tcaagatggc
      121 atcgtgaagt ggttgttcac cgtaaactgt aatacaatcc tgtttatgga tttgtttgca
      181 tatttttccc tccataggga aacctttctt ccatggctca ggacacactc ctggatcgag
      241 ccaacaggag aactttctgg taagcatttg gctaactttt ttttttttga gatggagtct
      301 tgctgtgtcg cctaggctgg agtgcagtgg cgtgatcttg gctcactgca gcctccactt
      361 cccgggttca atcaattctc ctacctcaac ttcctgagta gctgggatta caggcgcccg
      421 ccaccacacc cggctcattt ttgtactttt agtagagaca cagttttgcc atgttggcca
      481 ggctggtctt gaattcctca gctcaggtga tctgcctgcc ttggcctctc aaagtgctgg
      541 gattacaggc gtgagccact gtgcccggcc ttggctaact tttcaaaatt aaagattttg
      601 acttgttaca gtcatgtgac atttttttct ttctgtttgc tgagtttttg ataatttata
      661 tctctcaaag tggagacttt aaaaaagact catccgtgtg ccgtgttcac tgcctggtat
      721 cttagtgtgg accgaagcct aaggaccctg aaaacagctg cagatgaaga tggcaagcac
      781 ccgctgcaag ctggccaggt acctggagga cctggaggat gtggacttga agaaatttaa
      841 gatgcactta gaggactatc ctccccagaa gggctgcatc cccctcccga ggggtcagac
      901 agagaaggca gaccatgtgg atctagccac gctaatgatc gacttcaatg gggaggagaa
      961 ggcgtgggcc atggccgtgt ggatcttcgc tgcgatcaac aggagagacc tttatgagaa
     1021 agcaaaaaga gatgagccga agtggggttc agataatgca cgtgtttcga atcccactgt
     1081 gatatgccag gaagacagca ttgaagagga gtggatgggt ttactggagt acctttcgag
     1141 aatctctatt tgtaaaatga agaaagatta ccgtaagaag tacagaaagt acgtgagaag
     1201 cagattccag tgcattgaag acaggaatgc ccgtctgggt gagagtgtga gcctcaacaa
     1261 acgctacaca cgactgcgtc tcatcaagga gcaccggagc cagcaggaga gggagcagga
     1321 gcttctggcc atcggcaaga ccaagacgtg tgagagcccc gtgagtccca ttaagatgga
     1381 gttgctgttt gaccccgatg atgagcattc tgagcctgtg cacaccgtgg tgttccaggg
     1441 ggcggcaggg attgggaaaa caatcctggc caggaagatg atgttggact gggcgtcggg
     1501 gacactctac caagacaggt ttgactatct gttctatatc cactgtcgag aggtgagcct
     1561 tgtgacacag aggagcctgg gggacctgat catgagctgc tgccccgacc caaacccacc
     1621 catccacaag atcgtgagaa aaccctccag aatcctcttc ctcatggacg gcttcgatga
     1681 gctgcaaggt gcctttgacg agcacatagg accgctctgc actgactggc agaaggccga
     1741 gcggggagac attctcctga gcagcctcat cagaaagaag ctgcttcccg aggcctctct
     1801 gctcatcacc acgagacctg tggccctgga gaaactgcag cacttgctgg accatcctcg
     1861 gcatgtggag atcctgggtt tctccgaggc caaaaggaaa gagtacttct tcaagtactt
     1921 ctctgatgag gcccaagcca gggcagcctt cagtctgatt caggagaacg aggtcctctt
     1981 caccatgtgc ttcatccccc tggtctgctg gatcgtgtgc actggactga aacagcagat
     2041 ggagagtggc aagagccttg cccagacatc caagaccacc accgcggtgt acgtcttctt
     2101 cctttccagt ttgctgcagc cccggggagg gagccaggag cacggcctct gcgcccacct
     2161 ctgggggctc tgctctttgg ctgcagatgg aatctggaac cagaaaatcc tgtttgagga
     2221 gtccgacctc aggaatcatg gactgcagaa ggcggatgtg tctgctttcc tgaggatgaa
     2281 cctgttccaa aaggaagtgg actgcgagaa gttctacagc ttcatccaca tgactttcca
     2341 ggagttcttt gccgccatgt actacctgct ggaagaggaa aaggaaggaa ggacgaacgt
     2401 tccagggagt cgtttgaagc ttcccagccg agacgtgaca gtccttctgg aaaactatgg
     2461 caaattcgaa aaggggtatt tgatttttgt tgtacgtttc ctctttggcc tggtaaacca
     2521 ggagaggacc tcctacttgg agaagaaatt aagttgcaag atctctcagc aaatcaggct
     2581 ggagctgctg aaatggattg aagtgaaagc caaagctaaa aagctgcaga tccagcccag
     2641 ccagctggaa ttgttctact gtttgtacga gatgcaggag gaggacttcg tgcaaagggc
     2701 catggactat ttccccaaga ttgagatcaa tctctccacc agaatggacc acatggtttc
     2761 ttccttttgc attgagaact gtcatcgggt ggagtcactg tccctggggt ttctccataa
     2821 catgcccaag gaggaagagg aggaggaaaa ggaaggccga caccttgata tggtgcagtg
     2881 tgtcctccca agctcctctc atgctgcctg ttctcatgga ttggtgaaca gccacctcac
     2941 ttccagtttt tgccggggcc tcttttcagt tctgagcacc agccagagtc taactgaatt
     3001 ggacctcagt gacaattctc tgggggaccc agggatgaga gtgttgtgtg aaacgctcca
     3061 gcatcctggc tgtaacattc ggagattgtg gttggggcgc tgtggcctct cgcatgagtg
     3121 ctgcttcgac atctccttgg tcctcagcag caaccagaag ctggtggagc tggacctgag
     3181 tgacaacgcc ctcggtgact tcggaatcag acttctgtgt gtgggactga agcacctgtt
     3241 gtgcaatctg aagaagctct ggttggtcag ctgctgcctc acatcagcat gttgtcagga
     3301 tcttgcatca gtattgagca ccagccattc cctgaccaga ctctatgtgg gggagaatgc
     3361 cttgggagac tcaggagtcg caattttatg tgaaaaagcc aagaatccac agtgtaacct
     3421 gcagaaactg gggttggtga attctggcct tacgtcagtc tgttgttcag ctttgtcctc
     3481 ggtactcagc actaatcaga atctcacgca cctttacctg cgaggcaaca ctctcggaga
     3541 caaggggatc aaactactct gtgagggact cttgcacccc gactgcaagc ttcaggtgtt
     3601 ggaattagac aactgcaacc tcacgtcaca ctgctgctgg gatctttcca cacttctgac
     3661 ctccagccag agcctgcgaa agctgagcct gggcaacaat gacctgggcg acctgggggt
     3721 catgatgttc tgtgaagtgc tgaaacagca gagctgcctc ctgcagaacc tggggttgtc
     3781 tgaaatgtat ttcaattatg agacaaaaag tgcgttagaa acacttcaag aagaaaagcc
     3841 tgagctgacc gtcgtctttg agccttcttg gtaggagtgg aaacggggct gccagacgcc
     3901 agtgttctcc ggtccctcca gctgggggcc ctcaggtgga gagagctgcg atccatccag
     3961 gccaagacca cagctctgtg atccttccgg tggagtgtcg gagaagagag cttgccgacg
     4021 atgccttcct gtgcagagct tgggcatctc ctttacgcca gggtgaggaa gacaccagga
     4081 caatgacagc atcgggtgtt gttgtcatca cagcgcctca gttagaggat gttcctcttg
     4141 gtgacctcat gtaattagct cattcaataa agcactttct ttatttt
//
