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Q9JJ26

- MEFV_MOUSE

UniProt

Q9JJ26 - MEFV_MOUSE

Protein

Pyrin

Gene

Mefv

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 2 (27 Jul 2011)
      Previous versions | rss
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    Functioni

    Involved in innate immunity and the inflammatory response. Interacts with several components of the inflammasome complex, a large oligomeric structure which recruits and activates CASP1 and ultimately induces maturation of cytokines such as IL1B. However, the exact role of MEFV in the inflammatory pathway is uncertain as contradictory effects on IL1B processing have been reported in different experimental systems. Has been shown to activate IL1B production. Has also been shown to inhibit IL1B production. Also required for PSTPIP1-induced PYCARD oligomerization and for formation of pyroptosomes, large supramolecular structures composed of oligomerized PYCARD dimers which form prior to inflammatory apoptosis. Can reduce PYCARD-induced apoptosis. Recruits PSTPIP1 to pyroptosomes, and required for PSTPIP1 oligomerization By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri439 – 48143B box-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. actin binding Source: UniProtKB
    2. zinc ion binding Source: UniProtKB

    GO - Biological processi

    1. inflammatory response Source: UniProtKB
    2. innate immune response Source: UniProtKB-KW

    Keywords - Biological processi

    Immunity, Inflammatory response, Innate immunity

    Keywords - Ligandi

    Actin-binding, Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Pyrin
    Alternative name(s):
    Marenostrin
    Gene namesi
    Name:Mefv
    OrganismiMus musculus (Mouse)Imported
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 16

    Organism-specific databases

    MGIiMGI:1859396. Mefv.

    Subcellular locationi

    Cytoplasmcytoskeleton By similarity. Cell projectionruffle By similarity. Cell projectionlamellipodium By similarity. Nucleus By similarity
    Note: Associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral lamellar ruffles. In pre-apoptotic cells, colocalizes with PYCARD/ASC in large specks (pyroptosomes). In migrating monocytes, strongly polarized at the leading edge of the cell where it colocalizes with polymerizing actin and PYCARD/ASC By similarity.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-KW
    2. lamellipodium Source: UniProtKB-SubCell
    3. microtubule Source: UniProtKB-KW
    4. microtubule associated complex Source: UniProtKB
    5. nucleus Source: UniProtKB-SubCell
    6. ruffle Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell projection, Cytoplasm, Cytoskeleton, Microtubule, Nucleus

    Pathology & Biotechi

    Disruption phenotypei

    Animals are grossly normal, with no obvious changes in thymus, spleen or lymph nodes. In vitro, resident peritoneal macrophage cells show enhanced IL1B and IL18 release in response to inflammatory stimuli.1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 767767PyrinPRO_0000220365Add
    BLAST

    Proteomic databases

    PRIDEiQ9JJ26.

    PTM databases

    PhosphoSiteiQ9JJ26.

    Expressioni

    Tissue specificityi

    Expressed in spleen peripheral blood granulocytes. Not expressed in lymphocytes, thymus, testis, ovary, heart, brain, lung, liver, kidney and muscle.1 Publication

    Gene expression databases

    ArrayExpressiQ9JJ26.
    BgeeiQ9JJ26.
    CleanExiMM_MEFV.
    GenevestigatoriQ9JJ26.

    Interactioni

    Subunit structurei

    Homotrimer. Interacts (via the B box-type zinc finger) with PSTPIP1. Interacts (via the B30.2/SPRY domain) with CASP1 p20 and p10 subunits, CASP5, NLRP1, NLRP2 AND NLRP3. Interacts with NFKBIA, PYCARD, RELA and IL1B but not processed IL1B. Interacts weakly with VASP and ACTR3 By similarity.By similarity

    Structurei

    3D structure databases

    ProteinModelPortaliQ9JJ26.
    SMRiQ9JJ26. Positions 13-84.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 9292DAPINCuratedPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni489 – 647159Required for homotrimerization and induction of pyroptosomesBy similarityAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili481 – 51030Sequence AnalysisAdd
    BLAST

    Domaini

    The B box-type zinc finger interacts, possibly intramolecularly, with the DAPIN domain; this may be an autoinhibitory mechanism released by PSTPIP1 binding.By similarity

    Sequence similaritiesi

    Contains 1 B box-type zinc finger.PROSITE-ProRule annotation
    Contains 1 DAPIN domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri439 – 48143B box-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Coiled coil, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG328286.
    GeneTreeiENSGT00730000110268.
    HOGENOMiHOG000113552.
    HOVERGENiHBG006343.
    KOiK12803.
    OrthoDBiEOG7CCBQH.

    Family and domain databases

    Gene3Di1.10.533.10. 1 hit.
    4.10.45.10. 1 hit.
    InterProiIPR004020. DAPIN.
    IPR011029. DEATH-like_dom.
    IPR028841. Pyrin.
    IPR000315. Znf_B-box.
    [Graphical view]
    PANTHERiPTHR24103:SF264. PTHR24103:SF264. 1 hit.
    PfamiPF02758. PYRIN. 1 hit.
    PF00643. zf-B_box. 1 hit.
    [Graphical view]
    SMARTiSM00336. BBOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF47986. SSF47986. 1 hit.
    PROSITEiPS50824. DAPIN. 1 hit.
    PS50119. ZF_BBOX. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9JJ26-1 [UniParc]FASTAAdd to Basket

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    MAKTLGDHLL NTLEELLPYD FEKFKFKLQN TSLEKGHSKI PRGHMQMARP    50
    VKLASLLITY YGEEYAVRLT LQILRATNQR QLAEELRKAT GTEHLIEENR 100
    VGGSVQSSVE NKAKSVKVPD VPEGDGTQQN NDESDTLPSS QAEVGKGPQK 150
    KSLTKRKDQR GPESLDSQTK PWTRSTAPLY RRTQGTQSPG DKESTASAQL 200
    RRNVSSAGRL QGLYNNAPGR RESKKAEVYV YLPSGKKRPR SLEITTYSRE 250
    GEPPNSEVLP TQEETRNGSL IRMRTATLNG RTTGALEKGT GIPEHSMVLD 300
    EKTFRNMSSK TSLIGEERCP TSWTENGNGS PETTESSGET AGSILSDPEV 350
    PLSLCEKPAK TPEDPASLGQ AACEGRSQDK AVCPLCHTQE GDLRGDTCVQ 400
    SSCSCSIAPG DPKASGRCSI CFQCQGLLAR KSCEAQSPQS LPQCPRHMKQ 450
    VLLLFCEDHR EPICLICRLS LEHQGHRVRP IEEAALEYKE QIREQLERLR 500
    EMRGYVEEHR LQGDKKTDDF LKQTEIQKQK ISCPLEKLYQ LLEKQEQLFV 550
    TWLQELSQTI SKVRETYYTR VSLLDEMIEE LEAKQDQPEW DLMQDIGITL 600
    HRAKMMSASE LLDTPPGVKE KLHLLYQKSK SVEKNMQCFS EMLSSEMAFS 650
    ASDVAKWEGR QPSATQVQGL VPTVHLKCDG AHTQDCDVVF YPEREAGGSE 700
    PKDYLHPQPA QDTPELHEIH SRNNKRKFKS FLKWKPSFSR TDWRLRTCCY 750
    RDLDQAAAHP NLIFSMI 767
    Length:767
    Mass (Da):86,409
    Last modified:July 27, 2011 - v2
    Checksum:i828E59E4E8DF5549
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti543 – 5431E → G in AAF03766. (PubMed:10818206)Curated
    Sequence conflicti565 – 5651E → G in AAF03766. (PubMed:10818206)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF143409 mRNA. Translation: AAF03766.1.
    AC139347 Genomic DNA. No translation available.
    CCDSiCCDS27907.1.
    RefSeqiNP_062326.2. NM_019453.2.
    UniGeneiMm.143718.

    Genome annotation databases

    EnsembliENSMUST00000023180; ENSMUSP00000023180; ENSMUSG00000022534.
    GeneIDi54483.
    KEGGimmu:54483.
    UCSCiuc007xym.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF143409 mRNA. Translation: AAF03766.1 .
    AC139347 Genomic DNA. No translation available.
    CCDSi CCDS27907.1.
    RefSeqi NP_062326.2. NM_019453.2.
    UniGenei Mm.143718.

    3D structure databases

    ProteinModelPortali Q9JJ26.
    SMRi Q9JJ26. Positions 13-84.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q9JJ26.

    Proteomic databases

    PRIDEi Q9JJ26.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000023180 ; ENSMUSP00000023180 ; ENSMUSG00000022534 .
    GeneIDi 54483.
    KEGGi mmu:54483.
    UCSCi uc007xym.2. mouse.

    Organism-specific databases

    CTDi 4210.
    MGIi MGI:1859396. Mefv.

    Phylogenomic databases

    eggNOGi NOG328286.
    GeneTreei ENSGT00730000110268.
    HOGENOMi HOG000113552.
    HOVERGENi HBG006343.
    KOi K12803.
    OrthoDBi EOG7CCBQH.

    Miscellaneous databases

    NextBioi 311340.
    PROi Q9JJ26.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9JJ26.
    Bgeei Q9JJ26.
    CleanExi MM_MEFV.
    Genevestigatori Q9JJ26.

    Family and domain databases

    Gene3Di 1.10.533.10. 1 hit.
    4.10.45.10. 1 hit.
    InterProi IPR004020. DAPIN.
    IPR011029. DEATH-like_dom.
    IPR028841. Pyrin.
    IPR000315. Znf_B-box.
    [Graphical view ]
    PANTHERi PTHR24103:SF264. PTHR24103:SF264. 1 hit.
    Pfami PF02758. PYRIN. 1 hit.
    PF00643. zf-B_box. 1 hit.
    [Graphical view ]
    SMARTi SM00336. BBOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47986. SSF47986. 1 hit.
    PROSITEi PS50824. DAPIN. 1 hit.
    PS50119. ZF_BBOX. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial Mediterranean fever."
      Chae J.J., Centola M., Aksentijevich I., Dutra A., Tran M., Wood G., Nagaraju K., Kingma D.W., Liu P.P., Kastner D.L.
      Mamm. Genome 11:428-435(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Strain: 129/Sv.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    3. "Genetic loss of murine pyrin, the Familial Mediterranean Fever protein, increases interleukin-1beta levels."
      Hesker P.R., Nguyen M., Kovarova M., Ting J.P., Koller B.H.
      PLoS ONE 7:E51105-E51105(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISRUPTION PHENOTYPE.

    Entry informationi

    Entry nameiMEFV_MOUSE
    AccessioniPrimary (citable) accession number: Q9JJ26
    Secondary accession number(s): E9QN30
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 19, 2003
    Last sequence update: July 27, 2011
    Last modified: October 1, 2014
    This is version 96 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Caution

    Lacks the B30.2/SPRY domain found in the human ortholog, thus may have divergent function(s).Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3