LOCUS       NM_000243               3506 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens MEFV innate immunity regulator, pyrin (MEFV),
            transcript variant 1, mRNA.
ACCESSION   NM_000243
VERSION     NM_000243.3
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 3506)
  AUTHORS   Ahmed,N.E., El Gazzar,W.B., Amer,A.S., Elamawy,M., Eleleimy,H.A.,
            El-Shimi,O., Elmahdy,M., El-Sayed,M.S. and Abdelrahman,S.M.
  TITLE     Molecular investigation of MEFV gene polymorphisms among patients
            with familial mediterranean fever-like symptoms
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 70 (8), 57-63 (2024)
   PUBMED   39262262
  REMARK    GeneRIF: Molecular investigation of MEFV gene polymorphisms among
            patients with familial mediterranean fever-like symptoms.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3506)
  AUTHORS   Ben-Chetrit,E. and Touitou,I.
  TITLE     The significance of carrying MEFV variants in symptomatic and
            asymptomatic individuals
  JOURNAL   Clin Genet 106 (3), 217-223 (2024)
   PUBMED   38818540
  REMARK    GeneRIF: The significance of carrying MEFV variants in symptomatic
            and asymptomatic individuals.
            Review article
REFERENCE   3  (bases 1 to 3506)
  AUTHORS   Muhsinoglu,O., Akalin,I., Karadag,R., Yilmaz,S., Bayramlar,H. and
            Nicholson,J.D.
  TITLE     Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced
            glaucoma risk for Turkish population: a prospective clinical
            analysis
  JOURNAL   Ophthalmic Genet 45 (4), 332-336 (2024)
   PUBMED   38482581
  REMARK    GeneRIF: Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a
            reduced glaucoma risk for Turkish population: a prospective
            clinical analysis.
REFERENCE   4  (bases 1 to 3506)
  AUTHORS   Aksoy,R., Us,E., Aksoy,D.F., Dumlupinar,E. and Turgay,T.M.
  TITLE     Molecular analyses of MEFV gene mutation variants in Turkish
            population
  JOURNAL   Mol Biol Rep 51 (1), 844 (2024)
   PUBMED   39042260
  REMARK    GeneRIF: Molecular analyses of MEFV gene mutation variants in
            Turkish population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3506)
  AUTHORS   Grandemange,S., Soler,S. and Touitou,I.
  TITLE     Expression of the familial Mediterranean fever gene is regulated by
            nonsense-mediated decay
  JOURNAL   Hum Mol Genet 18 (24), 4746-4755 (2009)
   PUBMED   19755381
  REMARK    GeneRIF: these results declare MEFV to be the first
            auto-inflammatory gene regulated by nonsense-mediated decay.
REFERENCE   6  (bases 1 to 3506)
  AUTHORS   Bernot,A., Heilig,R., Clepet,C., Smaoui,N., Da Silva,C.,
            Petit,J.L., Devaud,C., Chiannilkulchai,N., Fizames,C., Samson,D.,
            Cruaud,C., Caloustian,C., Gyapay,G., Delpech,M. and Weissenbach,J.
  TITLE     A transcriptional Map of the FMF region
  JOURNAL   Genomics 50 (2), 147-160 (1998)
   PUBMED   9653642
REFERENCE   7  (bases 1 to 3506)
  AUTHORS   Pras,M.
  TITLE     Familial Mediterranean fever: from the clinical syndrome to the
            cloning of the pyrin gene
  JOURNAL   Scand J Rheumatol 27 (2), 92-97 (1998)
   PUBMED   9572633
  REMARK    Review article
REFERENCE   8  (bases 1 to 3506)
  AUTHORS   Sood,R., Blake,T., Aksentijevich,I., Wood,G., Chen,X., Gardner,D.,
            Shelton,D.A., Mangelsdorf,M., Orsborn,A., Pras,E., Balow,J.E. Jr.,
            Centola,M., Deng,Z., Zaks,N., Chen,X., Richards,N.,
            Fischel-Ghodsian,N., Rotter,J.I., Pras,M., Shohat,M., Deaven,L.L.,
            Gumucio,D.L., Callen,D.F., Richards,R.I., Doggett,N.A. et al.
  TITLE     Construction of a 1-Mb restriction-mapped cosmid contig containing
            the candidate region for the familial Mediterranean fever locus
            (MEFV) on chromosome 16p 13.3
  JOURNAL   Genomics 42 (1), 83-95 (1997)
   PUBMED   9177779
REFERENCE   9  (bases 1 to 3506)
  AUTHORS   Dupont,M., Dross,C., Smaoui,N., Nedelec,B., Grateau,G., Clepet,C.,
            Gourdier,I., Kone-Paut,I., Delpech,M., Demaille,J. and Touitou,I.
  TITLE     Genotypic diagnosis of familial Mediterranean fever (FMF) using new
            microsatellite markers: example of two extensive non-Ashkenazi
            Jewish pedigrees
  JOURNAL   J Med Genet 34 (5), 375-381 (1997)
   PUBMED   9152834
REFERENCE   10 (bases 1 to 3506)
  AUTHORS   Shohat,M.
  TITLE     Familial Mediterranean Fever
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301405
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ003147.1, AF018080.1 and
            AK298660.1.
            
            On Dec 30, 2019 this sequence version replaced NM_000243.2.
            
            Summary: This gene encodes a protein, also known as pyrin or
            marenostrin, that is an important modulator of innate immunity.
            Mutations in this gene are associated with Mediterranean fever, a
            hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: AF018080.1, Y14441.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000219596.6/ ENSP00000219596.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AJ003147.1         215857-215862       c
            7-1467              AF018080.1         2-1462
            1468-1633           AJ003147.1         206245-206410       c
            1634-1809           AF018080.1         1629-1804
            1810-1810           AJ003147.1         203117-203117       c
            1811-3228           AF018080.1         1806-3223
            3229-3448           AJ003147.1         201314-201533       c
            3449-3505           AF018080.1         3447-3503
            3506-3506           AK298660.1         2273-2273
FEATURES             Location/Qualifiers
     source          1..3506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..3506
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="MEFV innate immunity regulator, pyrin"
                     /db_xref="GeneID:4210"
                     /db_xref="HGNC:HGNC:6998"
                     /db_xref="MIM:608107"
     exon            1..323
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     CDS             47..2392
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="isoform 1 is encoded by transcript variant 1;
                     pyrin; marenostrin; Mediterranean fever; MEFV, pyrin
                     innate immunity regulator; MEFV innate immuity regulator,
                     pyrin"
                     /codon_start=1
                     /product="pyrin isoform 1"
                     /protein_id="NP_000234.1"
                     /db_xref="CCDS:CCDS10498.1"
                     /db_xref="GeneID:4210"
                     /db_xref="HGNC:HGNC:6998"
                     /db_xref="MIM:608107"
                     /translation="MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQ
                     IQRARPVKMATLLVTYYGEEYAVQLTLQVLRAINQRLLAEELHRAAIQEYSTQENGTD
                     DSAASSSLGENKPRSLKTPDHPEGNEGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSK
                     RREKASEGLDAQGKPRTRSPALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAG
                     GAPGQKECRPFEVYLPSGKMRPRSLEVTISTGEKAPANPEILLTLEEKTAANLDSATE
                     PRARPTPDGGASADLKEGPGNPEHSVTGRPPDTAASPRCHAQEGDPVDGTCVRDSCSF
                     PEAVSGHPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDE
                     PICLICSLSQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVS
                     FLKQTEALKQRVQRKLEQVYYFLEQQEHFFVASLEDVGQMVGQIRKAYDTRVSQDIAL
                     LDALIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLLHQKSEF
                     VEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGN
                     KWERLPDGPQRFDSCIIVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTL
                     SPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGIFVDYRVGSISFYNVTARSHI
                     YTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGPD"
     exon            324..956
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1306
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            1307..1402
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            1403..1633
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            1634..1656
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            1657..1772
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            1773..1805
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            1806..1838
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     exon            1839..3506
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3485..3490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="hexamer: AATAAA"
     polyA_site      3506
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="major polyA site"
ORIGIN      
        1 ctaccagaag ccagacagct ggctcgagcc tctcctgctc agcaccatgg ctaagacccc
       61 tagtgaccat ctgctgtcca ccctggagga gctggtgccc tatgacttcg agaagttcaa
      121 gttcaagctg cagaacacca gtgtgcagaa ggagcactcc aggatccccc ggagccagat
      181 ccagagagcc aggccggtga agatggccac tctgctggtc acctactatg gggaagagta
      241 cgccgtgcag ctcaccctgc aggtcctgcg ggccatcaac cagcgcctgc tggccgagga
      301 gctccacagg gcagccattc aggaatattc cacacaagaa aacggcacag atgattccgc
      361 agcgtccagc tccctggggg agaacaagcc caggagcctg aagactccag accaccccga
      421 ggggaacgag gggaacggcc ctcggccgta cgggggcgga gctgccagcc tgcggtgcag
      481 ccagcccgag gccgggaggg ggctgtcgag gaagcccctg agcaaacgca gagagaaggc
      541 ctcggagggc ctggacgcgc agggcaagcc tcggacccgg agcccggccc tgccgggcgg
      601 gagaagcccc ggcccctgca gggcgctaga ggggggccag gccgaggtcc ggctgcgcag
      661 aaacgccagc tccgcgggga ggctgcaggg gctggcgggg ggcgccccgg ggcagaagga
      721 gtgcaggccc ttcgaagtgt acctgccctc gggaaagatg cgacctagaa gccttgaggt
      781 caccatttct acaggggaga aggcgcccgc aaatccagaa attctcctga ctctagagga
      841 aaagacagct gcgaatctgg actcggcaac agaaccccgg gcaaggccca ctccggatgg
      901 aggggcatct gcggacctga aggaaggccc tggaaatcca gaacattcgg tcaccggaag
      961 gccaccagac acggctgcga gtccccgctg ccacgcccag gaaggagacc cagttgacgg
     1021 tacctgtgtg cgtgattcct gcagcttccc cgaggcagtt tctgggcacc cccaggcctc
     1081 aggcagccgc tcacctggct gcccccggtg ccaggactcc catgaaagga agagcccggg
     1141 aagcctaagc ccccagcccc tgccacagtg taagcgccac ctgaagcagg tccagctgct
     1201 cttctgtgag gatcacgatg agcccatctg cctcatctgc agtctgagtc aggagcacca
     1261 aggccaccgg gtgcgcccca ttgaggaggt cgccctggaa cacaagaaga aaattcagaa
     1321 gcagctggag catctgaaga agctgagaaa atcaggggag gagcagcgat cctatgggga
     1381 ggagaaggca gtgagctttc tgaaacaaac tgaagcgctg aagcagcggg tgcagaggaa
     1441 gctggagcag gtgtactact tcctggagca gcaagagcat ttctttgtgg cctcactgga
     1501 ggacgtgggc cagatggttg ggcagatcag gaaggcatat gacacccgcg tatcccagga
     1561 catcgccctg ctcgatgcgc tgattgggga actggaggcc aaggagtgcc agtcagaatg
     1621 ggaacttctg caggacattg gagacatctt gcacagggct aagacagtgc ctgtccctga
     1681 aaagtggacc actcctcaag agataaaaca aaagatccaa ctcctccacc agaagtcaga
     1741 gtttgtggag aagagcacaa agtacttctc agaaaccctg cgttcagaaa tggaaatgtt
     1801 caatgttccg gagctgattg gcgctcaggc acatgctgtt aatgtgattc tggatgcaga
     1861 aaccgcttac cccaacctca tcttctctga tgatctgaag agtgttagac ttggaaacaa
     1921 gtgggagagg ctgcctgatg gcccgcaaag atttgacagc tgtatcattg ttctgggctc
     1981 tccgagtttc ctctctggcc gccgttactg ggaggtggag gttggagaca agacagcatg
     2041 gatcctggga gcctgcaaga catccataag caggaaaggg aacatgactc tgtcgccaga
     2101 gaatggctac tgggtggtga taatgatgaa ggaaaatgag taccaggcgt ccagcgttcc
     2161 cccgacccgc ctgctaataa aggagcctcc caagcgtgtg ggcatcttcg tggactacag
     2221 agttggaagc atctcctttt acaatgtgac agccagatcc cacatctata cattcgccag
     2281 ctgctctttc tctgggcccc ttcaacctat cttcagccct gggacacgtg atggagggaa
     2341 gaacacagct cctctgacta tctgtccagt gggtggtcag gggcctgact gaatgcccaa
     2401 cactgcatct ctcttcctgc ttctggcctt gtatcttgca ttcacactca atagtcacgg
     2461 aatgccgact aggtgctagc tgctatggga aatgcaaaaa taacaaaata gttactgtgc
     2521 ccacggagcc tacccgatta tagcagaggt aagttaggaa cgaacatgtt agtcaatccg
     2581 ggtgaagaca tgtactgatg acacaccatg gatttcagag gaggaagtac ggagtcgttg
     2641 cataatccgc ccctggtggg tggcactctc aggtgctcct gaacagaaga tttggccctc
     2701 attttccctc agaaccccac ggcaaggata tatgtcccct tgttctctct gcttctgtct
     2761 tgaggatatg ggaagcctag agaaacgcaa gcagactgga ttgggataga agtatttgtg
     2821 tacctggatt aatgaactat gatttttttt tttttttttt gagaccaaat cttgctctgt
     2881 ggcccaggct ggagtgcagt ggcacgatct cagctcactg caacctccac ctcccaggtt
     2941 caagcgattc tcctgcctca gcctcctgag cagctgggat tacaggtgcg tgccaccaca
     3001 ccaggctggt tttcttgtat ttttagtaga gacgggggtt tcaccatgtt agccaggctg
     3061 gtctcgaact cctgacctca ggtgatccac ccgcctcagc ctcccaaagt gctgggatta
     3121 caggcatgag ccactgtgcc cggcctatga ttcttttttt tttttttttt tgagacaaag
     3181 ttttgctctt gtcacccagg ctggagtgca gtggtgcaat cttggctcgc aacctccgcc
     3241 tcccaggttc aagagattct cctgcctcag cctccgaagt agctgggatt acaggcgccc
     3301 gccaccatgc ccggctaatt ttttgcattt ttagtagaca tgaggtttca tcatgttggc
     3361 caggccggtc tcaaactcct gacctcaggt gatgcaccca cctcagcctc ccaaagtgca
     3421 gggattacag gcatgagcca ccatgccggg ccatgattct taagagaatt gactgggcct
     3481 catgaataaa aaaattagaa aatctg
//
