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Mefv Mediterranean fever [ Mus musculus (house mouse) ]

Gene ID: 54483, updated on 18-Sep-2018

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
FMF; pyrin; TRIM20
Expression
Biased expression in spleen adult (RPKM 1.2), liver E18 (RPKM 0.4) and 11 other tissues See more
Orthologs

Genomic context

See Mefv in Genome Data Viewer
Location:
16 A1; 16 2.18 cM
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 16 NC_000082.6 (3706974..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 162, pseudogene 1 Neighboring gene olfactory receptor 163, pseudogene 1 Neighboring gene teratocarcinoma-derived growth factor, pseudogene 1 Neighboring gene zinc finger protein 263

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 FunctionsWhat's a GeneRIF?

Variation

Alleles

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

Pathways from BioSystems

General gene information

Homology

Clone Names

  • MGC124344, MGC124345

Gene Ontology Provided by MGI

Function Evidence Code Pubs
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin binding ISO
Inferred from Sequence Orthology
more info
 
identical protein 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inflammatory response ISO
Inferred from Sequence Orthology
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of NLRP3 inflammasome complex assembly ISO
Inferred from Sequence Orthology
more info
 
negative regulation of cytokine production involved in inflammatory response ISO
Inferred from Sequence Orthology
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 autophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of autophagy ISO
Inferred from Sequence Orthology
more info
 
positive regulation of cysteine-type endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
response to interferon-gamma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to interferon-gamma ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
cell projection IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
cytoplasmic vesicle 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule associated complex ISO
Inferred from Sequence Orthology
more info
 
nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
pyrin
Names
familial mediterranean fever
marenostrin

NCBI Reference Sequences (RefSeq)

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
    ENSMUSP00000097795.2, ENSMUST00000100222.3
    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
    UniProtKB/TrEMBL
    Q32MT1
    Related
    ENSMUSP00000154892.1, ENSMUST00000229725.1
    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.
    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
    ENSMUSP00000023180.7, ENSMUST00000023180.14
    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 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000082.6 Reference GRCm38.p4 C57BL/6J

    Range
    3706974..3718210 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011245950.2XP_011244252.1  pyrin isoform X2

    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
  2. XM_006522361.3XP_006522424.1  pyrin isoform X1

    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. XM_017317070.1XP_017172559.1  pyrin isoform X3

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