LOCUS       NM_134444               3713 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens NLR family pyrin domain containing 4 (NLRP4), mRNA.
ACCESSION   NM_134444
VERSION     NM_134444.5
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 3713)
  AUTHORS   Ruscitti,P., Berardicurti,O., Di Cola,I., Di Muzio,C., Di Nino,E.,
            Giacomelli,R. and Cipriani,P.
  TITLE     The hyper-expression of NLRP4 characterizes the occurrence of
            macrophage activation syndrome assessing STING pathway in
            adult-onset Still's disease
  JOURNAL   Clin Exp Immunol 208 (1), 95-102 (2022)
   PUBMED   35467709
  REMARK    GeneRIF: The hyper-expression of NLRP4 characterizes the occurrence
            of macrophage activation syndrome assessing STING pathway in
            adult-onset Still's disease.
REFERENCE   2  (bases 1 to 3713)
  AUTHORS   Wang,H., Xia,L., Yao,C.C., Dong,H., Yang,Y., Li,C., Ji,W.X.,
            Sun,R.M., Duan,H.Q., Mengzhou,W., Xia,W.M., Wang,S.J., Ji,P.,
            Li,Z., Jiao,L., Wang,Y. and Lu,S.
  TITLE     NLRP4 negatively regulates type I interferon response and
            influences the outcome in anti-programmed cell death protein
            (PD)-1/PD-ligand 1 therapy
  JOURNAL   Cancer Sci 113 (3), 838-851 (2022)
   PUBMED   34927309
  REMARK    GeneRIF: NLRP4 negatively regulates type I interferon response and
            influences the outcome in anti-programmed cell death protein
            (PD)-1/PD-ligand 1 therapy.
REFERENCE   3  (bases 1 to 3713)
  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   4  (bases 1 to 3713)
  AUTHORS   Cui,J., Li,Y., Zhu,L., Liu,D., Songyang,Z., Wang,H.Y. and Wang,R.F.
  TITLE     NLRP4 negatively regulates type I interferon signaling by targeting
            the kinase TBK1 for degradation via the ubiquitin ligase DTX4
  JOURNAL   Nat Immunol 13 (4), 387-395 (2012)
   PUBMED   22388039
  REMARK    GeneRIF: Our results provide molecular insight into the mechanisms
            by which NLRP4-DTX4 targets TBK1 for degradation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3713)
  AUTHORS   Jounai,N., Kobiyama,K., Shiina,M., Ogata,K., Ishii,K.J. and
            Takeshita,F.
  TITLE     NLRP4 negatively regulates autophagic processes through an
            association with beclin1
  JOURNAL   J Immunol 186 (3), 1646-1655 (2011)
   PUBMED   21209283
  REMARK    GeneRIF: NLRP4 is recruited to and accumulates in
            bacteria-containing phagosomes and transiently dissociates from
            beclin1 following group A streptococcus infection, thereby
            controlling the autophagic flux crucial for cell-autonomous
            antibacterial resistance.
REFERENCE   6  (bases 1 to 3713)
  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   7  (bases 1 to 3713)
  AUTHORS   Grenier,J.M., Wang,L., Manji,G.A., Huang,W.J., Al-Garawi,A.,
            Kelly,R., Carlson,A., Merriam,S., Lora,J.M., Briskin,M.,
            DiStefano,P.S. and Bertin,J.
  TITLE     Functional screening of five PYPAF family members identifies PYPAF5
            as a novel regulator of NF-kappaB and caspase-1
  JOURNAL   FEBS Lett 530 (1-3), 73-78 (2002)
   PUBMED   12387869
REFERENCE   8  (bases 1 to 3713)
  AUTHORS   Fiorentino,L., Stehlik,C., Oliveira,V., Ariza,M.E., Godzik,A. and
            Reed,J.C.
  TITLE     A novel PAAD-containing protein that modulates NF-kappa B induction
            by cytokines tumor necrosis factor-alpha and interleukin-1beta
  JOURNAL   J Biol Chem 277 (38), 35333-35340 (2002)
   PUBMED   12093792
REFERENCE   9  (bases 1 to 3713)
  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
REFERENCE   10 (bases 1 to 3713)
  AUTHORS   Miyamoto,T. and Hasuike,S.
  TITLE     Isolation and expression analysis of the human RNH2 gene encoding
            ribonuclease inhibitor 2
  JOURNAL   J Assist Reprod Genet 19 (8), 394-397 (2002)
   PUBMED   12182447
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012310.5, AK315003.1,
            AF479747.1, BE302040.1 and BU632773.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_134444.4.
            
            Summary: The protein encoded by this gene is a member of the
            nucleotide-binding and leucine-rich repeat receptor (NLR) family,
            and is predicted to contain an N-terminal pyrin effector domain
            (PYD), a centrally-located nucleotide-binding and oligomerization
            domain (NACHT) and C-terminal leucine-rich repeats (LRR). This gene
            product has a demonstrated role as a negative regulator of
            autophagy and type I interferon signaling pathways as a result of
            protein interactions with its NACHT domain. The PYD domain has also
            been shown to be important in the inhibition of NF-kB (nuclear
            factor kappa-light-chain-enhancer of activated B cells). [provided
            by RefSeq, Dec 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on 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##
            Transcript exon combination :: AK315003.1, BC050326.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301295.11/ ENSP00000301295.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                AC012310.5         28954-28991
            39-740              AK315003.1         1-702
            741-2316            AC012310.5         50088-51663
            2317-3411           AF479747.1         1926-3020
            3412-3546           BE302040.1         162-296             c
            3547-3713           BU632773.1         16-182              c
FEATURES             Location/Qualifiers
     source          1..3713
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..3713
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /note="NLR family pyrin domain containing 4"
                     /db_xref="GeneID:147945"
                     /db_xref="HGNC:HGNC:22943"
                     /db_xref="MIM:609645"
     exon            1..395
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            396..740
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             461..3445
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /note="NACHT, leucine rich repeat and PYD containing 4;
                     nucleotide-binding oligomerization domain, leucine rich
                     repeat and pyrin domain containing 4; cancer/testis
                     antigen 58; PYRIN-containing APAF1-like protein 4; PAAD
                     and NACHT-containing protein 2; ribonuclease inhibitor 2;
                     PYRIN and NACHT-containing protein 2"
                     /codon_start=1
                     /product="NACHT, LRR and PYD domains-containing protein 4"
                     /protein_id="NP_604393.2"
                     /db_xref="CCDS:CCDS12936.1"
                     /db_xref="GeneID:147945"
                     /db_xref="HGNC:HGNC:22943"
                     /db_xref="MIM:609645"
                     /translation="MAASFFSDFGLMWYLEELKKEEFRKFKEHLKQMTLQLELKQIPW
                     TEVKKASREELANLLIKHYEEQQAWNITLRIFQKMDRKDLCMKVMRERTGYTKTYQAH
                     AKQKFSRLWSSKSVTEIHLYFEEEVKQEECDHLDRLFAPKEAGKQPRTVIIQGPQGIG
                     KTTLLMKLMMAWSDNKIFRDRFLYTFYFCCRELRELPPTSLADLISREWPDPAAPITE
                     IVSQPERLLFVIDSFEELQGGLNEPDSDLCGDLMEKRPVQVLLSSLLRKKMLPEASLL
                     IAIKPVCPKELRDQVTISEIYQPRGFNESDRLVYFCCFFKDPKRAMEAFNLVRESEQL
                     FSICQIPLLCWILCTSLKQEMQKGKDLALTCQSTTSVYSSFVFNLFTPEGAEGPTPQT
                     QHQLKALCSLAAEGMWTDTFEFCEDDLRRNGVVDADIPALLGTKILLKYGERESSYVF
                     LHVCIQEFCAALFYLLKSHLDHPHPAVRCVQELLVANFEKARRAHWIFLGCFLTGLLN
                     KKEQEKLDAFFGFQLSQEIKQQIHQCLKSLGERGNPQGQVDSLAIFYCLFEMQDPAFV
                     KQAVNLLQEANFHIIDNVDLVVSAYCLKYCSSLRKLCFSVQNVFKKEDEHSSTSDYSL
                     ICWHHICSVLTTSGHLRELQVQDSTLSESTFVTWCNQLRHPSCRLQKLGINNVSFSGQ
                     SVLLFEVLFYQPDLKYLSFTLTKLSRDDIRSLCDALNYPAGNVKELALVNCHLSPIDC
                     EVLAGLLTNNKKLTYLNVSCNQLDTGVPLLCEALCSPDTVLVYLMLAFCHLSEQCCEY
                     ISEMLLRNKSVRYLDLSANVLKDEGLKTLCEALKHPDCCLDSLCLVKCFITAAGCEDL
                     ASALISNQNLKILQIGCNEIGDVGVQLLCRALTHTDCRLEILGLEECGLTSTCCKDLA
                     SVLTCSKTLQQLNLTLNTLDHTGVVVLCEALRHPECALQVLGLRKTDFDEETQALLTA
                     EEERNPNLTITDDCDTITRVEI"
     exon            741..2316
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            2317..2478
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            2479..2646
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            2647..2814
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            2815..2985
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            2986..3156
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            3157..3327
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            3328..3713
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3683..3688
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /note="hexamer: AATAAA"
     polyA_site      3713
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /note="major polyA site"
ORIGIN      
        1 aaggaccagg aaggcgtgga gcggtgagtc agcgcttcgt gctgggctgt tcgtctcttc
       61 tatgtgctga tttcctgggt tactttgggt cttccttttc tttctccctt ttaccctgtc
      121 tcctttcttg aggctgatcg atcacagcca ggcctctcca ttctatttac ccagcgtttt
      181 ccttctctcc agttagtggg gtagatgaac gccctgtgtt tataaggtgc ctcccaggag
      241 cctgagacct gtgagaagaa tggggggtgg aggtggggga gactcgtcac gaagggagac
      301 cttggagctt cgagggtggg aatgttctta ttagattctt catctctgtt gacacaaaca
      361 tgtaggagaa gctggagaac atagacaggg atgaggtttt atttatttat tgttcctggt
      421 cactgtctct ttgaggattg gtatctctgc tccagaaaag atggcagcct ctttcttctc
      481 tgattttggt cttatgtggt atctggagga gctcaaaaag gaggagttca ggaaatttaa
      541 agaacatctc aagcaaatga ctttgcagct tgaactcaag cagattccct ggactgaggt
      601 caaaaaagca tcccgggaag aacttgcaaa cctcttgatc aagcactatg aagaacaaca
      661 agcttggaac ataaccttaa gaatctttca aaagatggat agaaaggatc tctgcatgaa
      721 ggtcatgagg gagagaacag gatacacaaa gacctatcaa gctcacgcaa agcagaaatt
      781 cagccgctta tggtccagca agtctgtcac tgagattcac ctatactttg aggaggaagt
      841 caagcaagaa gaatgtgacc atttggaccg cctttttgct cccaaggaag ctgggaaaca
      901 gccacgtaca gtgatcattc aaggaccaca aggaattgga aaaacgacac tcctgatgaa
      961 gctgatgatg gcctggtcgg acaacaagat ctttcgggat aggttcctgt acacgttcta
     1021 tttctgctgc agagaactga gggagttgcc gccaacgagt ttggctgact tgatttccag
     1081 agagtggcct gaccccgctg ctcctataac agagatcgtg tctcaaccgg agagactctt
     1141 gttcgtcatc gacagcttcg aagagctgca gggcggcttg aacgaacccg attcggatct
     1201 gtgtggtgac ttgatggaga aacggccggt gcaggtgctt ctgagcagtt tgctgaggaa
     1261 gaagatgctc ccggaggcct ccctgctcat cgctatcaaa cccgtgtgcc cgaaggagct
     1321 ccgggatcag gtgacgatct cagaaatcta ccagccccgg ggattcaacg agagtgatag
     1381 gttagtgtat ttctgctgtt tcttcaaaga cccgaaaaga gccatggaag ccttcaatct
     1441 tgtaagagaa agtgaacagc tgttttccat atgccaaatc ccgctcctct gctggatcct
     1501 gtgtaccagt ctgaagcaag agatgcagaa aggaaaagac ctggccctga cctgccagag
     1561 cactacctct gtgtactcct ctttcgtctt taacctgttc acacctgagg gtgccgaggg
     1621 cccgactccg caaacccagc accagctgaa ggccctgtgc tccctggctg cagagggtat
     1681 gtggacagac acatttgagt tttgtgaaga cgacctccgg agaaatgggg ttgttgacgc
     1741 tgacatccct gcgctgctgg gcaccaagat acttctgaag tacggggagc gtgagagctc
     1801 ctacgtgttc ctccacgtgt gtatccagga gttctgtgcc gccttgttct atttgctcaa
     1861 gagccacctt gatcatcctc acccagctgt gagatgtgta caggaattgc tagttgccaa
     1921 ttttgaaaaa gcaaggagag cacattggat ttttttgggg tgttttctaa ctggcctttt
     1981 aaataaaaag gaacaagaaa aactggatgc gttttttggc ttccaactgt cccaagagat
     2041 aaagcagcaa attcaccagt gcctgaagag cttaggggag cgtggcaatc ctcagggaca
     2101 ggtggattcc ttggcgatat tttactgtct ctttgaaatg caggatcctg cctttgtgaa
     2161 gcaggcagtg aacctcctcc aagaagctaa ctttcatatt attgacaacg tggacttggt
     2221 ggtttctgcc tactgcttaa aatactgctc cagcttgagg aaactctgtt tttccgttca
     2281 aaatgtcttt aagaaagagg atgaacacag ctctacgtcg gattacagcc tcatctgttg
     2341 gcatcacatc tgctctgtgc tcaccaccag cgggcacctc agagagctcc aggtgcagga
     2401 cagcaccctc agcgagtcga cctttgtgac ctggtgtaac cagctgaggc atcccagctg
     2461 tcgccttcag aagcttggaa taaataacgt ttccttttct ggccagagtg ttctgctctt
     2521 tgaggtgctc ttttatcagc cagacttgaa atacctgagc ttcaccctca cgaaactctc
     2581 tcgtgatgac atcaggtccc tctgtgatgc cttgaactac ccagcaggca acgtcaaaga
     2641 gctagcgctg gtaaattgtc acctctcacc cattgattgt gaagtccttg ctggccttct
     2701 aaccaacaac aagaagctga cgtatctgaa tgtatcctgc aaccagttag acacaggcgt
     2761 gccccttttg tgtgaagccc tgtgcagccc agacacggtc ctggtatacc tgatgttggc
     2821 tttctgccac ctcagcgagc agtgctgcga atacatctct gaaatgcttc tgcgtaacaa
     2881 gagcgtgcgc tatctagacc tcagtgccaa tgtcctgaag gacgaaggac tgaaaactct
     2941 ctgcgaggcc ttgaaacatc cggactgctg cctggattca ctgtgtttgg taaaatgttt
     3001 tatcactgct gctggctgtg aagacctcgc ctctgctctc atcagcaatc aaaacctgaa
     3061 gattctgcaa attgggtgca atgaaatcgg agatgtgggt gtgcagctgt tgtgtcgggc
     3121 tctgacgcat acggattgcc gcttagagat tcttgggttg gaagaatgtg ggttaacgag
     3181 cacctgctgt aaggatctcg cgtctgttct cacctgcagt aagaccctgc agcagctcaa
     3241 cctgaccttg aacaccttgg accacacagg ggtggttgta ctctgtgagg ccctgagaca
     3301 cccagagtgt gccctgcagg tgctcgggct gagaaaaact gattttgatg aggaaaccca
     3361 ggcacttctg acggctgagg aagagagaaa tcctaacctg accatcacag acgactgtga
     3421 cacaatcaca agggtagaga tctgattgcg aggaacctgg gctctgactc gaacacctgc
     3481 aaaggacagg gactgggacc gttacttaca tgacactgca cccaggagat acaaatcatt
     3541 gatactctga gttgtgagat ttctggcacc ccattcatag atttgatatg atacacgtgg
     3601 tttttatgtg ctctgtggcc ttggatgagt cactgaaagg ccttcatggt ctctcggtct
     3661 cacaaggacc tcttaacccc tcaataaagt gttacatttc taaacattgg aaa
//
