LOCUS       NM_001161791            3094 bp    mRNA    linear   ROD 04-FEB-2025
DEFINITION  Mus musculus Mediterranean fever (Mefv), transcript variant 2,
            mRNA.
ACCESSION   NM_001161791
VERSION     NM_001161791.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3094)
  AUTHORS   Han,J.H., Karki,R., Malireddi,R.K.S., Mall,R., Sarkar,R.,
            Sharma,B.R., Klein,J., Berns,H., Pisharath,H., Pruett-Miller,S.M.,
            Bae,S.J. and Kanneganti,T.D.
  TITLE     NINJ1 mediates inflammatory cell death, PANoptosis, and lethality
            during infection conditions and heat stress
  JOURNAL   Nat Commun 15 (1), 1739 (2024)
   PUBMED   38409108
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3094)
  AUTHORS   Malik,H.S., Magnotti,F., Loeven,N.A., Delgado,J.M.,
            Kettenbach,A.N., Henry,T. and Bliska,J.B.
  TITLE     Phosphoprotein phosphatase activity positively regulates oligomeric
            pyrin to trigger inflammasome assembly in phagocytes
  JOURNAL   mBio 14 (5), e0206623 (2023)
   PUBMED   37787552
  REMARK    GeneRIF: Phosphoprotein phosphatase activity positively regulates
            oligomeric pyrin to trigger inflammasome assembly in phagocytes.
REFERENCE   3  (bases 1 to 3094)
  AUTHORS   Liu,C., Zhou,Y., Tu,Q., Yao,L., Li,J. and Yang,Z.
  TITLE     Alpha-linolenic acid pretreatment alleviates NETs-induced alveolar
            macrophage pyroptosis by inhibiting pyrin inflammasome activation
            in a mouse model of sepsis-induced ALI/ARDS
  JOURNAL   Front Immunol 14, 1146612 (2023)
   PUBMED   37051243
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3094)
  AUTHORS   Oh,C., Li,L., Verma,A., Reuven,A.D., Miao,E.A., Bliska,J.B. and
            Aachoui,Y.
  TITLE     Neutrophil inflammasomes sense the subcellular delivery route of
            translocated bacterial effectors and toxins
  JOURNAL   Cell Rep 41 (8), 111688 (2022)
   PUBMED   36417874
REFERENCE   5  (bases 1 to 3094)
  AUTHORS   Feng,S., Enosi Tuipulotu,D., Pandey,A., Jing,W., Shen,C., Ngo,C.,
            Tessema,M.B., Li,F.J., Fox,D., Mathur,A., Zhao,A., Wang,R.,
            Pfeffer,K., Degrandi,D., Yamamoto,M., Reading,P.C., Burgio,G. and
            Man,S.M.
  TITLE     Pathogen-selective killing by guanylate-binding proteins as a
            molecular mechanism leading to inflammasome signaling
  JOURNAL   Nat Commun 13 (1), 4395 (2022)
   PUBMED   35906252
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3094)
  AUTHORS   Hesker,P.R., Nguyen,M., Kovarova,M., Ting,J.P. and Koller,B.H.
  TITLE     Genetic loss of murine pyrin, the Familial Mediterranean Fever
            protein, increases interleukin-1beta levels
  JOURNAL   PLoS One 7 (11), e51105 (2012)
   PUBMED   23226472
  REMARK    GeneRIF: These results are consistent with a model in which pyrin
            acts to limit the release of IL-1beta generated by activation and
            assembly of inflammasomes in response to subclinical immune
            challenges.
REFERENCE   7  (bases 1 to 3094)
  AUTHORS   Chae,J.J., Cho,Y.H., Lee,G.S., Cheng,J., Liu,P.P., Feigenbaum,L.,
            Katz,S.I. and Kastner,D.L.
  TITLE     Gain-of-function Pyrin mutations induce NLRP3 protein-independent
            interleukin-1beta activation and severe autoinflammation in mice
  JOURNAL   Immunity 34 (5), 755-768 (2011)
   PUBMED   21600797
REFERENCE   8  (bases 1 to 3094)
  AUTHORS   Koc,B., Oktenli,C., Bulucu,F., Karadurmus,N., Sanisoglu,S.Y. and
            Gul,D.
  TITLE     The rate of pyrin mutations in critically ill patients with
            systemic inflammatory response syndrome and sepsis: a pilot study
  JOURNAL   J Rheumatol 34 (10), 2070-2075 (2007)
   PUBMED   17696266
REFERENCE   9  (bases 1 to 3094)
  AUTHORS   Chae,J.J., Komarow,H.D., Cheng,J., Wood,G., Raben,N., Liu,P.P. and
            Kastner,D.L.
  TITLE     Targeted disruption of pyrin, the FMF protein, causes heightened
            sensitivity to endotoxin and a defect in macrophage apoptosis
  JOURNAL   Mol Cell 11 (3), 591-604 (2003)
   PUBMED   12667444
  REMARK    GeneRIF: pyrin has a critical role in the innate immune response,
            possibly by acting on ASC, a known caspase-1 activator
REFERENCE   10 (bases 1 to 3094)
  AUTHORS   Chae,J.J., Centola,M., Aksentijevich,I., Dutra,A., Tran,M.,
            Wood,G., Nagaraju,K., Kingma,D.W., Liu,P.P. and Kastner,D.L.
  TITLE     Isolation, genomic organization, and expression analysis of the
            mouse and rat homologs of MEFV, the gene for familial mediterranean
            fever
  JOURNAL   Mamm Genome 11 (6), 428-435 (2000)
   PUBMED   10818206
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BB624975.1, BC108993.1, AV372338.2, CJ272618.1 and AC139347.4.
            
            Transcript Variant: This variant (2) differs in the 3' UTR and has
            multiple coding region differences compared to variant 1, one of
            which results in a frameshift. This results in a shorter isoform
            (2) with a distinct C-terminus, compared to isoform 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 :: BC108993.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849380, SAMN00849388
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                BB624975.1         1-39
            40-2623             BC108993.1         1-2584
            2624-3087           AV372338.2         163-626
            3088-3093           CJ272618.1         510-515
            3094-3094           AC139347.4         81476-81476
FEATURES             Location/Qualifiers
     source          1..3094
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="16"
                     /map="16 2.18 cM"
     gene            1..3094
                     /gene="Mefv"
                     /gene_synonym="FMF; pyrin; TRIM20"
                     /note="Mediterranean fever"
                     /db_xref="GeneID:54483"
                     /db_xref="MGI:MGI:1859396"
     exon            1..339
                     /gene="Mefv"
                     /gene_synonym="FMF; pyrin; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..2285
                     /gene="Mefv"
                     /gene_synonym="FMF; pyrin; TRIM20"
                     /note="isoform 2 is encoded by transcript variant 2;
                     familial mediterranean fever; marenostrin"
                     /codon_start=1
                     /product="pyrin isoform 2"
                     /protein_id="NP_001155263.1"
                     /db_xref="CCDS:CCDS88864.1"
                     /db_xref="GeneID:54483"
                     /db_xref="MGI:MGI:1859396"
                     /translation="MAKTLGDHLLNTLEELLPYDFEKFKFKLQNTSLEKGHSKIPRGH
                     MQMARPVKLASLLITYYGEEYAVRLTLQILRATNQRQLAEELRKATGTEHLIEENRVG
                     GSVQSSVENKAKSVKVPDVPEGDGTQQNNDESDTLPSSQAEVGKGPQKKSLTKRKDQR
                     GPESLDSQTKPWTRSTAPLYRRTQGTQSPGDKESTASAQLRRNVSSAGRLQGLYNNAP
                     GRRESKKAEVYVYLPSGKKRPRSLEITTYSREGEPPNSEVLPTQEETRNGSLIRMRTA
                     TLNGRTTGALEKGTGIPEHSMVLDEKTFRNMSSKTSLIGEERCPTSWTENGNGSPETT
                     ESSGETAGSILSDPEVPLSLCEKPAKTPEDPASLGQAACEGRSQDKAVCPLCHTQEGD
                     LRGDTCVQSSCSCSIAPGDPKASGRCSICFQCQGLLARKSCEAQSPQSLPQCPRHMKQ
                     VLLLFCEDHREPICLICRLSLEHQGHRVRPIEEAALEYKEQIREQLERLREMRGYVEE
                     HRLQGDKKTDDFLKQTEIQKQKISCPLEKLYQLLEKQEQLFVTWLQELSQTISKVRET
                     YYTRVSLLDEMIEELEAKQDQPEWDLMQDIGITLHRAKMMSASELLDTPPGVKEKLHL
                     LYQKSKSVEKNMQCFSEMLSSEMAFSASDVAKWEGRQPSATQVQGLVPTVHLKCDGAH
                     TQDCDVVFYPEREAGGSEPKDYLHPQPAQDTPELHEIHSRNNKRKFKSFLKWKPSFLP
                     "
     exon            340..1185
                     /gene="Mefv"
                     /gene_synonym="FMF; pyrin; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..1529
                     /gene="Mefv"
                     /gene_synonym="FMF; pyrin; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            1530..1625
                     /gene="Mefv"
                     /gene_synonym="FMF; pyrin; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            1626..1844
                     /gene="Mefv"
                     /gene_synonym="FMF; pyrin; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            1845..1867
                     /gene="Mefv"
                     /gene_synonym="FMF; pyrin; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            1868..1983
                     /gene="Mefv"
                     /gene_synonym="FMF; pyrin; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            1984..2276
                     /gene="Mefv"
                     /gene_synonym="FMF; pyrin; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            2277..3094
                     /gene="Mefv"
                     /gene_synonym="FMF; pyrin; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3072..3077
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mefv"
                     /gene_synonym="FMF; pyrin; TRIM20"
                     /note="hexamer: AATAAA"
     polyA_site      3094
                     /gene="Mefv"
                     /gene_synonym="FMF; pyrin; TRIM20"
                     /note="major polyA site"
ORIGIN      
        1 gagaggtcat tatcgtttgc cagaagccac atagctggct gcagtccctc ctggcccgca
       61 ccatggccaa gacccttggt gatcatctgc taaacaccct ggaggagctg ctgccctatg
      121 actttgagaa gttcaagttt aagctacaga acaccagcct ggagaagggc cactctaaga
      181 tcccccgggg ccatatgcag atggccaggc cagtaaagct ggccagcctt ctgataacct
      241 actacgggga ggagtatgct gtaaggctga ccctgcagat cctgcgggcc accaaccagc
      301 gccaactagc agaggagctt cgcaaagcca caggcacaga acatttaatt gaagaaaata
      361 gagttggtgg ttctgtccag tcttctgtag agaataaagc caagagtgtg aaggtaccag
      421 atgtccctga aggtgatggg acacagcaaa acaatgatga atcagacacc cttccatcca
      481 gccaggctga agtggggaag ggaccccaga agaagtcact gaccaaaagg aaggatcaga
      541 ggggccccga gagcctggac tcacagacca agccatggac aaggagcaca gcgcctctct
      601 ataggagaac ccagggcacc cagtccccag gggataagga gagcacagca agtgcccagc
      661 tccgcaggaa tgtcagctct gcagggaggc ttcaaggact ttacaacaat gccccaggga
      721 ggagagaaag caagaaagcc gaagtgtatg tatatttgcc ttcaggaaag aagcgaccca
      781 ggagtcttga aattaccact tattcaagag aaggagaacc cccaaattca gaagttcttc
      841 caactcaaga ggaaacaaga aatgggagtc tcattcgcat gagaacagct actctgaatg
      901 gaaggactac gggggcttta gaaaagggca cagggattcc agagcattcc atggtgctgg
      961 atgaaaaaac attcagaaac atgtcttcca aaacatcgtt gattggggag gagagatgcc
     1021 ctacatcatg gacggaaaat ggaaatggga gtccagaaac cacagagtcc tcgggagaga
     1081 cggctggcag catactctct gatccagaag tgcctttgtc actatgtgaa aaaccagcta
     1141 aaactccaga agacccagca tccttaggac aggccgcttg tgaaggaagg tcacaggaca
     1201 aggctgtgtg ccctctttgc cacacccagg aaggagacct gcgtggtgat acctgtgtgc
     1261 aaagttcctg tagctgctcc attgctcctg gggatcccaa ggcctccggc agatgctcca
     1321 tatgctttca gtgccaaggc ttacttgcca gaaagagctg cgaagcccag agcccccagt
     1381 ccctaccaca gtgccctcgt cacatgaagc aggtgctgct gcttttctgt gaggaccaca
     1441 gggagcccat ctgcctcatc tgcaggctga gcctggagca tcaaggacat cgagtgcgcc
     1501 ccatagagga ggctgcacta gagtacaagg agcagatccg ggagcagctg gagcgcctgc
     1561 gggagatgag gggatatgtg gaggagcaca ggctacaggg agacaagaaa acagacgatt
     1621 tcctgaaaca aacagaaatc cagaagcaga agatttcatg tccacttgag aagctatacc
     1681 aactcctgga gaagcaagaa caactctttg tgacctggct acaggagcta agccagacca
     1741 tcagcaaggt cagagagaca tactacaccc gggtttccct actggatgag atgattgaag
     1801 aactagaggc caagcaagac cagccagagt gggacctcat gcaggacatt ggaatcacct
     1861 tgcacagggc taagatgatg tctgcctctg agctgttgga cactcctcca ggtgttaaag
     1921 aaaagcttca tctgctctac cagaagtcaa agtctgtgga gaagaatatg cagtgtttct
     1981 cagaaatgct gagctctgaa atggcattca gcgcttcaga tgtagcaaaa tgggaagggc
     2041 gccagcctag cgccacacag gtccagggct tggttcccac cgttcaccta aagtgtgatg
     2101 gtgcacacac acaggactgt gatgtagtat tttacccaga acgggaagct ggaggatcag
     2161 aacctaaaga ttaccttcat cctcagccag ctcaagacac acctgagcta catgagatcc
     2221 attctcggaa caacaaaaga aaatttaaat ctttcctgaa atggaaacct tcattcttac
     2281 cgtgatttgg accaagcagc tgctcacccc aacctcatct tctcgatgat atgaatagtg
     2341 tgagatttgg aaacaaggtg tacctgctgc ctgacagtct ccagaggttc tagagttcaa
     2401 tcactaccct ggggactcct agctttgact ccagctacca tcactgggat gtggaatatg
     2461 aagataagac agttcaggtc ctgggaacat gcaaagcact ggtgagcagg aaggagacta
     2521 taactcctcg gagaatggct cctgggtggt aataatagca acataacagg aagacacttt
     2581 tctccagcct gtgaatgagg atgccacaaa ggaagtgggc agcttcctaa actacacagc
     2641 taggagcaac atggcatata catggtcact ggcttctccc ctccagttcc catcaacctg
     2701 cctttaaccc tgggccatat gatgaagaac atagctcttc tgaccatcag tcctgtcagt
     2761 gaccagatac ttcactgagt gcccaacact gtgccaacat tctggcttct ggtcttgtgc
     2821 ctcatgttca tgcactcaga agtcatcaac aaggtgtcat ctggcataag ggatgtaatg
     2881 gataggaaaa caatattagg ctgggtgtgg aggtgcacac ctaagaacct gggaggctga
     2941 gacaggatga tgcctgtgag tttgggtcta gcctgatgga tttcaggtta ctcttgactg
     3001 tggtccaggc tccatacaaa atgaaagaaa ataatactgg tacttgtatt atttagtact
     3061 actattgttg taataaaata ccctgataaa agca
//
