1: Mefv Mediterranean fever [ Mus musculus ]

GeneID: 54483 updated 3-Dec-2009

[Top][Help]Summary

Official Symbol
Mefvprovided by MGI
Official Full Name
Mediterranean feverprovided by MGI
Primary Source
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
Also known as
FMF; pyrin; TRIM20; MGC124344; MGC124345; Mefv

[Top][Help]Genomic regions, transcripts, and products

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Genomic context

chromosome: 16; Location: 16 A1; 16 1.1 cMSee Mefv in MapViewer

[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. pyrin has a critical role in the innate immune response, possibly by acting on ASC, a known caspase-1 activator

[Top][Help]Alleles

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

[Top][Help]General gene information

Homology

Homologs of the Mefv gene The Mefv gene is conserved in human, chimpanzee, dog, and rat.


Map Viewer (Human, Rat)

Pathways

KEGG pathway: NOD-like receptor signaling pathway
04621

Gene Ontology Provided by GOA

Function Evidence
actin binding IEA   
metal ion binding IEA   
protein binding IEA   
zinc ion binding NAS PubMed
Process Evidence
biological_process ND   
inflammatory response IEA   
Component Evidence
cytoplasm IEA   
cytoskeleton IEA   
intracellular IEA   
microtubule IEA   

[Top][Help]General protein information

Preferred Names
Mediterranean fever
Names
Mediterranean fever
marenostrin
familial mediterranean fever

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

mRNA and Protein(s)

  1. NM_001161790.1NP_001155262.1  Mediterranean fever isoform 1

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC139347,AV372338,BB624975,BC108994,CJ272618
    UniProtKB/TrEMBL
    Q32MT0
    Conserved Domains (2) summary
    cd00021
    Location:472511
    Blast Score: 129
    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:788
    Blast Score: 272
    PAAD_DAPIN; PAAD/DAPIN/Pyrin domain
  2. NM_001161791.1NP_001155263.1  Mediterranean fever isoform 2

    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 (2) summary
    cd00021
    Location:442481
    Blast Score: 130
    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:788
    Blast Score: 269
    PAAD_DAPIN; PAAD/DAPIN/Pyrin domain
  3. NM_019453.2NP_062326.2  Mediterranean fever isoform 3

    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
    Related Ensembl
    ENSMUSP00000023180, ENSMUST00000023180
    Conserved Domains (2) summary
    cd00021
    Location:442481
    Blast Score: 129
    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:788
    Blast Score: 270
    PAAD_DAPIN; PAAD/DAPIN/Pyrin domain

RefSeqs of Annotated Genomes: Build 37.1

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

Reference assembly (C57BL/6J)

Genomic

  1. NC_000082.5

    Range
    3707214..3718096, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NT_039624.7 

    Range
    707214..718096, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (based on Celera)

Genomic

  1. AC_000038.1

    Range
    4345681..4356358, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_001030584.1 

    Range
    224292..234969, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

  Nucleotide   Protein Strain
  genomic   AC139347.4  (70594..81476)   None
  genomic   CH466521.1   EDK97203.1   mixed
       EDK97204.1   mixed
  mRNA   AF143409.1   AAF03766.1   129/Sv
  mRNA   AV372338.2   None   C57BL/6J
  mRNA   BB624975.1   None   C57BL/6J
  mRNA   BC108993.1   AAI08994.1
  mRNA   BC108994.1   AAI08995.1
  mRNA   CJ272618.1   None   C57BL/6J
Protein Accession   Links
Q32MT0   GenPept   UniProtKB/TrEMBL:Q32MT0
Q32MT1   GenPept   UniProtKB/TrEMBL:Q32MT1
Q9JJ26.1   GenPept   UniProtKB/Swiss-Prot:Q9JJ26

[Top][Help]Additional Links

Gene LinkOut

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