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    Mefv Mediterranean fever [ Mus musculus (house mouse) ]

    Gene ID: 54483, updated on 23-Jun-2021

    Summary

    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; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    p; FMF; mar; TRIM; pyrin; TRIM20
    Expression
    Biased expression in spleen adult (RPKM 1.2), liver E18 (RPKM 0.4) and 11 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Mefv in Genome Data Viewer
    Location:
    16 A1; 16 2.18 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (3524838..3536073, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (3706974..3718211, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 16 NC_000082.5 (3707215..3718124, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene olfactory receptor 1361-like Neighboring gene olfactory receptor 163, pseudogene 1 Neighboring gene RIKEN cDNA 6720473M11 gene Neighboring gene small nucleolar RNA SNORA48 Neighboring gene teratocarcinoma-derived growth factor, pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Clone Names

    • MGC124344, MGC124345

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within immune system process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of NLRP3 inflammasome complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cytokine production involved in inflammatory response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of inflammatory response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of interleukin-1 beta production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of interleukin-12 production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of macrophage inflammatory protein 1 alpha production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of autophagy ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cysteine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in pyroptosome complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of interleukin-1 beta production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to interferon-gamma ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    part_of microtubule associated complex ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    pyrin
    Names
    familial mediterranean fever
    marenostrin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      ENSMUSP00000097795.3, ENSMUST00000100222.4
      Conserved Domains (2) 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.
      pfam02758
      Location:787
      PYRIN; PAAD/DAPIN/Pyrin domain
    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
      Consensus CDS
      CCDS88864.1
      UniProtKB/TrEMBL
      Q32MT1
      Related
      ENSMUSP00000154892.2, ENSMUST00000229725.2
      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.
      pfam02758
      Location:787
      PYRIN; PAAD/DAPIN/Pyrin domain
    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
      ENSMUSP00000023180.8, ENSMUST00000023180.15
      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.
      pfam02758
      Location:787
      PYRIN; PAAD/DAPIN/Pyrin domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      3524838..3536073 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030249188.2XP_030105048.1  pyrin isoform X2

      Conserved Domains (3) summary
      cd08321
      Location:688
      Pyrin_ASC-like; Pyrin Death Domain found in ASC
      pfam17649
      Location:515587
      VPS38; Vacuolar protein sorting 38
      cl00034
      Location:472511
      Bbox_SF; B-box-type zinc finger superfamily
    2. XM_006522361.4XP_006522424.1  pyrin isoform X1

      Conserved Domains (3) summary
      PRK03918
      Location:457645
      PRK03918; DNA double-strand break repair ATPase Rad50
      cd08321
      Location:688
      Pyrin_ASC-like; Pyrin Death Domain found in ASC
      cl00034
      Location:442481
      Bbox_SF; B-box-type zinc finger superfamily
    3. XM_030249189.2XP_030105049.1  pyrin isoform X3

      Conserved Domains (3) summary
      PRK03918
      Location:487675
      PRK03918; DNA double-strand break repair ATPase Rad50
      cd08321
      Location:688
      Pyrin_ASC-like; Pyrin Death Domain found in ASC
      cl00034
      Location:472511
      Bbox_SF; B-box-type zinc finger superfamily
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