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    Mefv Mediterranean fever [ Mus musculus (house mouse) ]

    Gene ID: 54483, updated on 4-Jul-2015
    Official Symbol
    Mefvprovided by MGI
    Official Full Name
    Mediterranean feverprovided by MGI
    Primary source
    MGI:MGI:1859396
    See related
    Ensembl:ENSMUSG00000022534
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    FMF; pyrin; TRIM20
    Orthologs
    See Mefv in Epigenomics, MapViewer
    Location:
    16 A1; 16 2.18 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    105 current GRCm38.p3 (GCF_000001635.23) 16 NC_000082.6 (3707215..3718210, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 16 NC_000082.5 (3707215..3718124, complement)

    Chromosome 16 - NC_000082.6Genomic Context describing neighboring genes Neighboring gene olfactory receptor 163, pseudogene 1 Neighboring gene igE-binding protein-like Neighboring gene teratocarcinoma-derived growth factor, pseudogene 1 Neighboring gene zinc finger protein 263

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Homology

    Clone Names

    • MGC124344, MGC124345

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    actin binding ISO
    Inferred from Sequence Orthology
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    immune system process IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response ISO
    Inferred from Sequence Orthology
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of inflammatory response ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of interleukin-1 beta production ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of interleukin-12 production ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of macrophage inflammatory protein 1 alpha production ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of cysteine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule associated complex ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    pyrin
    Names
    familial mediterranean fever
    marenostrin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001161790.1NP_001155262.1  pyrin isoform 1

      See identical proteins and their annotated locations for NP_001155262.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC139347, AV372338, BB624975, BC108994, CJ272618
      Consensus CDS
      CCDS49745.1
      UniProtKB/TrEMBL
      Q32MT0
      Related
      ENSMUSP00000097795, ENSMUST00000100222
      Conserved Domains (3) summary
      cd00021
      Location:472511
      BBOX; B-Box-type zinc finger; zinc binding domain (CHC3H2); often present in combination with other motifs, like RING zinc finger, NHL motif, coiled-coil or RFP domain in functionally unrelated proteins, most likely mediating protein-protein interaction.
      cd08321
      Location:688
      Pyrin_ASC-like; Pyrin Death Domain found in ASC
      cl01483
      Location:513592
      DUF964; Protein of unknown function (DUF964)
    2. NM_001161791.1NP_001155263.1  pyrin isoform 2

      See identical proteins and their annotated locations for NP_001155263.1

      Status: VALIDATED

      Description
      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.
      Source sequence(s)
      AC139347, AV372338, BB624975, BC108993, CJ272618
      UniProtKB/TrEMBL
      Q32MT1
      Conserved Domains (3) summary
      cd00021
      Location:442481
      BBOX; B-Box-type zinc finger; zinc binding domain (CHC3H2); often present in combination with other motifs, like RING zinc finger, NHL motif, coiled-coil or RFP domain in functionally unrelated proteins, most likely mediating protein-protein interaction.
      cd08321
      Location:688
      Pyrin_ASC-like; Pyrin Death Domain found in ASC
      cl01483
      Location:483562
      DUF964; Protein of unknown function (DUF964)
    3. NM_019453.2NP_062326.2  pyrin isoform 3

      See identical proteins and their annotated locations for NP_062326.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AC139347
      Consensus CDS
      CCDS27907.1
      UniProtKB/Swiss-Prot
      Q9JJ26
      Related
      ENSMUSP00000023180, ENSMUST00000023180
      Conserved Domains (3) summary
      cd00021
      Location:442481
      BBOX; B-Box-type zinc finger; zinc binding domain (CHC3H2); often present in combination with other motifs, like RING zinc finger, NHL motif, coiled-coil or RFP domain in functionally unrelated proteins, most likely mediating protein-protein interaction.
      cd08321
      Location:688
      Pyrin_ASC-like; Pyrin Death Domain found in ASC
      cl01483
      Location:483562
      DUF964; Protein of unknown function (DUF964)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p3 C57BL/6J

    Genomic

    1. NC_000082.6 Reference GRCm38.p3 C57BL/6J

      Range
      3707215..3718210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011245950.1XP_011244252.1  

      Conserved Domains (2) summary
      cd00021
      Location:442481
      BBOX; B-Box-type zinc finger; zinc binding domain (CHC3H2); often present in combination with other motifs, like RING zinc finger, NHL motif, coiled-coil or RFP domain in functionally unrelated proteins, most likely mediating protein-protein interaction.
      cd08321
      Location:688
      Pyrin_ASC-like; Pyrin Death Domain found in ASC
    2. XM_006522361.2XP_006522424.1  

      Conserved Domains (3) summary
      cd00021
      Location:442481
      BBOX; B-Box-type zinc finger; zinc binding domain (CHC3H2); often present in combination with other motifs, like RING zinc finger, NHL motif, coiled-coil or RFP domain in functionally unrelated proteins, most likely mediating protein-protein interaction.
      cd08321
      Location:688
      Pyrin_ASC-like; Pyrin Death Domain found in ASC
      cl01483
      Location:483562
      DUF964; Protein of unknown function (DUF964)

    Alternate Mm_Celera

    Genomic

    1. AC_000038.1 Alternate Mm_Celera

      Range
      4345682..4356386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)