LOCUS       NM_001199138            3362 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens NLR family CARD domain containing 4 (NLRC4),
            transcript variant 2, mRNA.
ACCESSION   NM_001199138
VERSION     NM_001199138.2
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 3362)
  AUTHORS   Asna Ashari,K., Parvaneh,N., Mirnia,K., Ayati,M., Saeedi,M.,
            Salehzadeh,F., Shahrooei,M., Sangsari,R., Rohani,P. and Ziaee,V.
  TITLE     Three cases of autoinflammatory disease with novel NLRC4 mutations,
            and the first mutation reported in the CARD domain of NLRC4
            associated with autoinflammatory infantile enterocolitis (AIFEC)
  JOURNAL   Pediatr Rheumatol Online J 22 (1), 90 (2024)
   PUBMED   39425177
  REMARK    GeneRIF: Three cases of autoinflammatory disease with novel NLRC4
            mutations, and the first mutation reported in the CARD domain of
            NLRC4 associated with autoinflammatory infantile enterocolitis
            (AIFEC).
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3362)
  AUTHORS   Domblides,C., Crampton,S., Liu,H., Bartleson,J.M., Nguyen,A.,
            Champagne,C., Landy,E.E., Spiker,L., Proffitt,C., Bhattarai,S.,
            Grawe,A.P., Fuentealba Valenzuela,M., Lartigue,L., Mahouche,I.,
            Dupaul-Chicoine,J., Nishimura,K., Lefort,F., Decraecker,M.,
            Velasco,V., Netzer,S., Pitard,V., Roy,C., Soubeyran,I., Racine,V.,
            Blanco,P., Dechanet-Merville,J., Saleh,M., Canna,S.W., Furman,D.
            and Faustin,B.
  TITLE     Human NLRC4 expression promotes cancer survival and associates with
            type I interferon signaling and immune infiltration
  JOURNAL   J Clin Invest 134 (11), e166085 (2024)
   PUBMED   38652550
  REMARK    GeneRIF: Human NLRC4 expression promotes cancer survival and
            associates with type I interferon signaling and immune
            infiltration.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3362)
  AUTHORS   Hu,S., Lin,T., Chen,Y., Guo,Y., Sun,X., Shi,L. and Pan,J.
  TITLE     NLRC4-mediated pyroptosis was involved in coagulation disorders of
            acute pancreatitis
  JOURNAL   J Gene Med 26 (4), e3683 (2024)
   PUBMED   38571451
  REMARK    GeneRIF: NLRC4-mediated pyroptosis was involved in coagulation
            disorders of acute pancreatitis.
REFERENCE   4  (bases 1 to 3362)
  AUTHORS   Tsukalov,I., Sanchez-Cerrillo,I., Rajas,O., Avalos,E.,
            Iturricastillo,G., Esparcia,L., Buzon,M.J., Genesca,M.,
            Scagnetti,C., Popova,O., Martin-Cofreces,N., Calvet-Mirabent,M.,
            Marcos-Jimenez,A., Martinez-Fleta,P., Delgado-Arevalo,C., de Los
            Santos,I., Munoz-Calleja,C., Calzada,M.J., Gonzalez Alvaro,I.,
            Palacios-Calvo,J., Alfranca,A., Ancochea,J., Sanchez-Madrid,F. and
            Martin-Gayo,E.
  TITLE     NFkappaB and NLRP3/NLRC4 inflammasomes regulate differentiation,
            activation and functional properties of monocytes in response to
            distinct SARS-CoV-2 proteins
  JOURNAL   Nat Commun 15 (1), 2100 (2024)
   PUBMED   38453949
  REMARK    GeneRIF: NFkappaB and NLRP3/NLRC4 inflammasomes regulate
            differentiation, activation and functional properties of monocytes
            in response to distinct SARS-CoV-2 proteins.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3362)
  AUTHORS   Liang,K., Tang,C.Y., Ke,Z.J., Zhang,X.J. and Huang,J.H.
  TITLE     [Expressions of NLRP1 and NLRC4 inflammasomes in prostate cancer
            and their clinical value]
  JOURNAL   Zhonghua Nan Ke Xue 29 (1), 31-37 (2023)
   PUBMED   37846829
  REMARK    GeneRIF: [Expressions of NLRP1 and NLRC4 inflammasomes in prostate
            cancer and their clinical value].
REFERENCE   6  (bases 1 to 3362)
  AUTHORS   Masumoto,J., Dowds,T.A., Schaner,P., Chen,F.F., Ogura,Y., Li,M.,
            Zhu,L., Katsuyama,T., Sagara,J., Taniguchi,S., Gumucio,D.L.,
            Nunez,G. and Inohara,N.
  TITLE     ASC is an activating adaptor for NF-kappa B and caspase-8-dependent
            apoptosis
  JOURNAL   Biochem Biophys Res Commun 303 (1), 69-73 (2003)
   PUBMED   12646168
REFERENCE   7  (bases 1 to 3362)
  AUTHORS   Fu,W.N., Bertoni,F., Kelsey,S.M., McElwaine,S.M., Cotter,F.E.,
            Newland,A.C. and Jia,L.
  TITLE     Role of DNA methylation in the suppression of Apaf-1 protein in
            human leukaemia
  JOURNAL   Oncogene 22 (3), 451-455 (2003)
   PUBMED   12545166
  REMARK    GeneRIF: Apaf-1 protein expression did not correlate with Apaf-1
            mRNA levels in human leukaemic blasts.Apaf-1 DNA promoter
            methylation might contribute to the inactivation of Apaf-1
            expression
REFERENCE   8  (bases 1 to 3362)
  AUTHORS   Poyet,J.L., Srinivasula,S.M., Tnani,M., Razmara,M.,
            Fernandes-Alnemri,T. and Alnemri,E.S.
  TITLE     Identification of Ipaf, a human caspase-1-activating protein
            related to Apaf-1
  JOURNAL   J Biol Chem 276 (30), 28309-28313 (2001)
   PUBMED   11390368
REFERENCE   9  (bases 1 to 3362)
  AUTHORS   Damiano,J.S., Stehlik,C., Pio,F., Godzik,A. and Reed,J.C.
  TITLE     CLAN, a novel human CED-4-like gene
  JOURNAL   Genomics 75 (1-3), 77-83 (2001)
   PUBMED   11472070
REFERENCE   10 (bases 1 to 3362)
  AUTHORS   Geddes,B.J., Wang,L., Huang,W.J., Lavellee,M., Manji,G.A.,
            Brown,M., Jurman,M., Cao,J., Morgenstern,J., Merriam,S.,
            Glucksmann,M.A., DiStefano,P.S. and Bertin,J.
  TITLE     Human CARD12 is a novel CED4/Apaf-1 family member that induces
            apoptosis
  JOURNAL   Biochem Biophys Res Commun 284 (1), 77-82 (2001)
   PUBMED   11374873
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121653.2, AK095467.1 and
            BC031555.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001199138.1.
            
            Summary: This gene encodes a member of the caspase recruitment
            domain-containing NLR family. Family members play essential roles
            in innate immune response to a wide range of pathogenic organisms,
            tissue damage and other cellular stresses. Mutations in this gene
            result in autoinflammation with infantile enterocolitis.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (2) has an alternate 5' UTR exon
            and encodes the same protein, as compared to variant 1.
            
            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 :: BC031555.1, AY358152.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000402280.6/ ENSP00000385428.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AL121653.2         88589-88594         c
            7-36                AK095467.1         1-30
            37-3362             BC031555.1         1-3326
FEATURES             Location/Qualifiers
     source          1..3362
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.3"
     gene            1..3362
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /note="NLR family CARD domain containing 4"
                     /db_xref="GeneID:58484"
                     /db_xref="HGNC:HGNC:16412"
                     /db_xref="MIM:606831"
     exon            1..149
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /inference="alignment:Splign:2.1.0"
     exon            150..268
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /inference="alignment:Splign:2.1.0"
     CDS             268..3342
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /note="isoform a is encoded by transcript variant 2;
                     ICE-protease activating factor; caspase recruitment domain
                     family, member 12; NOD-like receptor C4;
                     nucleotide-binding oligomerization domain, leucine rich
                     repeat and CARD domain containing 4; CARD, LRR, and
                     NACHT-containing protein; caspase recruitment
                     domain-containing protein 12; CED-4-like protein Clan"
                     /codon_start=1
                     /product="NLR family CARD domain-containing protein 4
                     isoform a"
                     /protein_id="NP_001186067.1"
                     /db_xref="CCDS:CCDS33174.1"
                     /db_xref="GeneID:58484"
                     /db_xref="HGNC:HGNC:16412"
                     /db_xref="MIM:606831"
                     /translation="MNFIKDNSRALIQRMGMTVIKQITDDLFVWNVLNREEVNIICCE
                     KVEQDAARGIIHMILKKGSESCNLFLKSLKEWNYPLFQDLNGQSLFHQTSEGDLDDLA
                     QDLKDLYHTPSFLNFYPLGEDIDIIFNLKSTFTEPVLWRKDQHHHRVEQLTLNGLLQA
                     LQSPCIIEGESGKGKSTLLQRIAMLWGSGKCKALTKFKFVFFLRLSRAQGGLFETLCD
                     QLLDIPGTIRKQTFMAMLLKLRQRVLFLLDGYNEFKPQNCPEIEALIKENHRFKNMVI
                     VTTTTECLRHIRQFGALTAEVGDMTEDSAQALIREVLIKELAEGLLLQIQKSRCLRNL
                     MKTPLFVVITCAIQMGESEFHSHTQTTLFHTFYDLLIQKNKHKHKGVAASDFIRSLDH
                     CGDLALEGVFSHKFDFELQDVSSVNEDVLLTTGLLCKYTAQRFKPKYKFFHKSFQEYT
                     AGRRLSSLLTSHEPEEVTKGNGYLQKMVSISDITSTYSSLLRYTCGSSVEATRAVMKH
                     LAAVYQHGCLLGLSIAKRPLWRQESLQSVKNTTEQEILKAININSFVECGIHLYQEST
                     SKSALSQEFEAFFQGKSLYINSGNIPDYLFDFFEHLPNCASALDFIKLDFYGGAMASW
                     EKAAEDTGGIHMEEAPETYIPSRAVSLFFNWKQEFRTLEVTLRDFSKLNKQDIRYLGK
                     IFSSATSLRLQIKRCAGVAGSLSLVLSTCKNIYSLMVEASPLTIEDERHITSVTNLKT
                     LSIHDLQNQRLPGGLTDSLGNLKNLTKLIMDNIKMNEEDAIKLAEGLKNLKKMCLFHL
                     THLSDIGEGMDYIVKSLSSEPCDLEEIQLVSCCLSANAVKILAQNLHNLVKLSILDLS
                     ENYLEKDGNEALHELIDRMNVLEQLTALMLPWGCDVQGSLSSLLKHLEEVPQLVKLGL
                     KNWRLTDTEIRILGAFFGKNPLKNFQQLNLAGNRVSSDGWLAFMGVFENLKQLVFFDF
                     STKEFLPDPALVRKLSQVLSKLTFLQEARLVGWQFDDDDLSVITGAFKLVTA"
     exon            269..529
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /inference="alignment:Splign:2.1.0"
     exon            530..2524
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /inference="alignment:Splign:2.1.0"
     exon            2525..2617
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /inference="alignment:Splign:2.1.0"
     exon            2618..2788
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /inference="alignment:Splign:2.1.0"
     exon            2789..2881
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /inference="alignment:Splign:2.1.0"
     exon            2882..3049
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /inference="alignment:Splign:2.1.0"
     exon            3050..3362
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3342..3347
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /note="hexamer: AATAAA"
     polyA_site      3362
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /note="major polyA site"
ORIGIN      
        1 ctctgtacac tgtcctctca cagaacaaga aggtatctgg tctacaagaa ctcgaggcct
       61 cactgaaacg gaaagcaaat acaaagaaac tttattttaa aaacatgtct tggtctccca
      121 agaagagggc aattggattg ctcagccaga atgaagagta gttttacaga aaaaagagga
      181 caatattggg atcacctttg acctttccat ttggaaataa tattttctat tgtgttatag
      241 aaaggtggga agctttcatc cagaacaatg aatttcataa aggacaatag ccgagccctt
      301 attcaaagaa tgggaatgac tgttataaag caaatcacag atgacctatt tgtatggaat
      361 gttctgaatc gcgaagaagt aaacatcatt tgctgcgaga aggtggagca ggatgctgct
      421 agagggatca ttcacatgat tttgaaaaag ggttcagagt cctgtaacct ctttcttaaa
      481 tcccttaagg agtggaacta tcctctattt caggacttga atggacaaag tctttttcat
      541 cagacatcag aaggagactt ggacgatttg gctcaggatt taaaggactt gtaccatacc
      601 ccatcttttc tgaactttta tccccttggt gaagatattg acattatttt taacttgaaa
      661 agcaccttca cagaacctgt cctgtggagg aaggaccaac accatcaccg cgtggagcag
      721 ctgaccctga atggcctcct gcaggctctt cagagcccct gcatcattga aggggaatct
      781 ggcaaaggca agtccactct gctgcagcga attgccatgc tctggggctc cggaaagtgc
      841 aaggctctga ccaagttcaa attcgtcttc ttcctccgtc tcagcagggc ccagggtgga
      901 ctttttgaaa ccctctgtga tcaactcctg gatatacctg gcacaatcag gaagcagaca
      961 ttcatggcca tgctgctgaa gctgcggcag agggttcttt tccttcttga tggctacaat
     1021 gaattcaagc cccagaactg cccagaaatc gaagccctga taaaggaaaa ccaccgcttc
     1081 aagaacatgg tcatcgtcac cactaccact gagtgcctga ggcacatacg gcagtttggt
     1141 gccctgactg ctgaggtggg ggatatgaca gaagacagcg cccaggctct catccgagaa
     1201 gtgctgatca aggagcttgc tgaaggcttg ttgctccaaa ttcagaaatc caggtgcttg
     1261 aggaatctca tgaagacccc tctctttgtg gtcatcactt gtgcaatcca gatgggtgaa
     1321 agtgagttcc actctcacac acaaacaacg ctgttccata ccttctatga tctgttgata
     1381 cagaaaaaca aacacaaaca taaaggtgtg gctgcaagtg acttcattcg gagcctggac
     1441 cactgtggag acctagctct ggagggtgtg ttctcccaca agtttgattt cgaactgcag
     1501 gatgtgtcca gcgtgaatga ggatgtcctg ctgacaactg ggctcctctg taaatataca
     1561 gctcaaaggt tcaagccaaa gtataaattc tttcacaagt cattccagga gtacacagca
     1621 ggacgaagac tcagcagttt attgacgtct catgagccag aggaggtgac caaggggaat
     1681 ggttacttgc agaaaatggt ttccatttcg gacattacat ccacttatag cagcctgctc
     1741 cggtacacct gtgggtcatc tgtggaagcc accagggctg ttatgaagca cctcgcagca
     1801 gtgtatcaac acggctgcct tctcggactt tccatcgcca agaggcctct ctggagacag
     1861 gaatctttgc aaagtgtgaa aaacaccact gagcaagaaa ttctgaaagc cataaacatc
     1921 aattcctttg tagagtgtgg catccattta tatcaagaga gtacatccaa atcagccctg
     1981 agccaagaat ttgaagcttt ctttcaaggt aaaagcttat atatcaactc agggaacatc
     2041 cccgattact tatttgactt ctttgaacat ttgcccaatt gtgcaagtgc cctggacttc
     2101 attaaactgg acttttatgg gggagctatg gcttcatggg aaaaggctgc agaagacaca
     2161 ggtggaatcc acatggaaga ggccccagaa acctacattc ccagcagggc tgtatctttg
     2221 ttcttcaact ggaagcagga attcaggact ctggaggtca cactccggga tttcagcaag
     2281 ttgaataagc aagatatcag atatctgggg aaaatattca gctctgccac aagcctcagg
     2341 ctgcaaataa agagatgtgc tggtgtggct ggaagcctca gtttggtcct cagcacctgt
     2401 aagaacattt attctctcat ggtggaagcc agtcccctca ccatagaaga tgagaggcac
     2461 atcacatctg taacaaacct gaaaaccttg agtattcatg acctacagaa tcaacggctg
     2521 ccgggtggtc tgactgacag cttgggtaac ttgaagaacc ttacaaagct cataatggat
     2581 aacataaaga tgaatgaaga agatgctata aaactagctg aaggcctgaa aaacctgaag
     2641 aagatgtgtt tatttcattt gacccacttg tctgacattg gagagggaat ggattacata
     2701 gtcaagtctc tgtcaagtga accctgtgac cttgaagaaa ttcaattagt ctcctgctgc
     2761 ttgtctgcaa atgcagtgaa aatcctagct cagaatcttc acaatttggt caaactgagc
     2821 attcttgatt tatcagaaaa ttacctggaa aaagatggaa atgaagctct tcatgaactg
     2881 atcgacagga tgaacgtgct agaacagctc accgcactga tgctgccctg gggctgtgac
     2941 gtgcaaggca gcctgagcag cctgttgaaa catttggagg aggtcccaca actcgtcaag
     3001 cttgggttga aaaactggag actcacagat acagagatta gaattttagg tgcatttttt
     3061 ggaaagaacc ctctgaaaaa cttccagcag ttgaatttgg cgggaaatcg tgtgagcagt
     3121 gatggatggc ttgccttcat gggtgtattt gagaatctta agcaattagt gttttttgac
     3181 tttagtacta aagaatttct acctgatcca gcattagtca gaaaacttag ccaagtgtta
     3241 tccaagttaa cttttctgca agaagctagg cttgttgggt ggcaatttga tgatgatgat
     3301 ctcagtgtta ttacaggtgc ttttaaacta gtaactgctt aaataaagtg tactcgaagc
     3361 ca
//
