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O15553

- MEFV_HUMAN

UniProt

O15553 - MEFV_HUMAN

Protein

Pyrin

Gene

MEFV

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      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 (PubMed:16037825). Has also been shown to inhibit IL1B production (PubMed:16785446, PubMed:17431422). 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.9 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei330 – 3312Cleavage; by CASP1Curated

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri370 – 41243B 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: Reactome
    3. negative regulation of inflammatory response Source: BHF-UCL
    4. negative regulation of interleukin-12 production Source: BHF-UCL
    5. negative regulation of interleukin-1 beta production Source: BHF-UCL
    6. negative regulation of macrophage inflammatory protein 1 alpha production Source: BHF-UCL
    7. nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway Source: Reactome
    8. positive regulation of cysteine-type endopeptidase activity Source: UniProtKB

    Keywords - Biological processi

    Immunity, Inflammatory response, Innate immunity

    Keywords - Ligandi

    Actin-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_75808. The NLRP3 inflammasome.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Pyrin
    Alternative name(s):
    Marenostrin
    Gene namesi
    Name:MEFV
    Synonyms:MEF
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:6998. MEFV.

    Subcellular locationi

    Isoform 1 : Cytoplasmcytoskeleton. Cell projectionruffle. Cell projectionlamellipodium. Nucleus
    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.

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cell projection, Cytoplasm, Cytoskeleton, Microtubule, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]: A hereditary periodic fever syndrome characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is frequently complicated by reactive amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine.15 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610]: A hereditary periodic fever syndrome characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with reactive renal amyloidosis and characterized by colchicine unresponsiveness.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi16 – 161L → P: Does not form MEFV- and PSTPIP1-expressing perinuclear specks. 1 Publication
    Mutagenesisi24 – 241F → S: Does not form MEFV- and PSTPIP1-expressing perinuclear specks. 1 Publication
    Mutagenesisi330 – 3301D → A: Not cleaved by CASP1. 1 Publication

    Keywords - Diseasei

    Amyloidosis, Disease mutation

    Organism-specific databases

    MIMi134610. phenotype.
    249100. phenotype.
    Orphaneti117. Behcet disease.
    342. Familial Mediterranean fever.
    329967. Intermittent hydrarthrosis.
    PharmGKBiPA30736.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 781781PyrinPRO_0000220364Add
    BLAST

    Post-translational modificationi

    Cleaved by CASP1 Probable. The N-terminal cleavage product localizes to the nucleus as a filamentous network and to the cytoplasm, interacts more strongly with RELA and NFKBIA than the full-length protein, enhances the nuclear localization of RELA and induces NFKBIA proteolysis. The C-terminal cleavage product localizes to the cytoplasm.Curated

    Proteomic databases

    PaxDbiO15553.
    PRIDEiO15553.

    PTM databases

    PhosphoSiteiO15553.

    Expressioni

    Tissue specificityi

    Expressed in peripheral blood leukocytes, particularly in mature granulocytes and to a lesser extent in monocytes but not in lymphocytes. Detected in spleen, lung and muscle, probably as a result of leukocyte infiltration in these tissues. Not expressed in thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, liver, kidney, pancreas. Expression detected in several myeloid leukemic, colon cancer, and prostate cancer cell lines.3 Publications

    Developmental stagei

    First detected in bone marrow promyelocytes. Expression increases throughout myelocyte differentiation and peaks in the mature myelomonocytic cells.1 Publication

    Inductioni

    In monocytes, by treatment with colchicine and IFN-alpha, by the proinflammatory cytokines IFNG/IFN-gamma and TNF, by bacterial lipopolysaccharides (LPS) and by retroviral infection. Repressed in monocytes by the antiinflammatory cytokines IL10/interleukin-10, TGFB1 and IL4/interleukin-4. In neutrophils, colchicine, TNF, bacterial lipopolysaccharides (LPS), IL10/interleukin-10, INF-alpha and IL4/interleukin-4 have no effect on expression. IFNG/IFN-gamma increases expression in neutrophils.2 Publications

    Gene expression databases

    ArrayExpressiO15553.
    BgeeiO15553.
    CleanExiHS_MEFV.
    GenevestigatoriO15553.

    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 ACTR3.7 Publications

    Protein-protein interaction databases

    BioGridi110374. 2 interactions.
    IntActiO15553. 2 interactions.
    MINTiMINT-206922.
    STRINGi9606.ENSP00000219596.

    Structurei

    Secondary structure

    1
    781
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi590 – 5945
    Turni604 – 6063
    Beta strandi611 – 6133
    Beta strandi619 – 6224
    Beta strandi637 – 6393
    Beta strandi642 – 6454
    Beta strandi650 – 6589
    Beta strandi665 – 6717
    Beta strandi676 – 6783
    Helixi684 – 6863
    Beta strandi688 – 6958
    Beta strandi698 – 7014
    Beta strandi716 – 7238
    Turni724 – 7274
    Beta strandi728 – 7336
    Turni734 – 7374
    Beta strandi738 – 7436
    Beta strandi752 – 7576
    Helixi762 – 7643
    Beta strandi770 – 7734

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2WL1X-ray1.35A586-776[»]
    ProteinModelPortaliO15553.
    SMRiO15553. Positions 13-88, 586-776.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO15553.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 9292DAPINPROSITE-ProRule annotationAdd
    BLAST
    Domaini580 – 775196B30.2/SPRYPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni266 – 28015Interaction with RELAAdd
    BLAST
    Regioni420 – 582163Required for homotrimerization and induction of pyroptosomesAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili413 – 44230Sequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi420 – 43718Nuclear localization signalSequence 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.

    Sequence similaritiesi

    Contains 1 B box-type zinc finger.PROSITE-ProRule annotation
    Contains 1 B30.2/SPRY domain.PROSITE-ProRule annotation
    Contains 1 DAPIN domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri370 – 41243B box-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Coiled coil, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG328286.
    HOGENOMiHOG000113552.
    HOVERGENiHBG006343.
    InParanoidiO15553.
    KOiK12803.
    OMAiPNLIFSD.
    OrthoDBiEOG7CCBQH.
    PhylomeDBiO15553.
    TreeFamiTF351091.

    Family and domain databases

    Gene3Di1.10.533.10. 1 hit.
    4.10.45.10. 1 hit.
    InterProiIPR001870. B30.2/SPRY.
    IPR003879. Butyrophylin.
    IPR008985. ConA-like_lec_gl_sf.
    IPR004020. DAPIN.
    IPR011029. DEATH-like_dom.
    IPR006574. PRY.
    IPR028841. Pyrin.
    IPR018355. SPla/RYanodine_receptor_subgr.
    IPR003877. SPRY_rcpt.
    IPR000315. Znf_B-box.
    [Graphical view]
    PANTHERiPTHR24103:SF264. PTHR24103:SF264. 1 hit.
    PfamiPF13765. PRY. 1 hit.
    PF02758. PYRIN. 1 hit.
    PF00622. SPRY. 1 hit.
    PF00643. zf-B_box. 1 hit.
    [Graphical view]
    PRINTSiPR01407. BUTYPHLNCDUF.
    SMARTiSM00336. BBOX. 1 hit.
    SM00589. PRY. 1 hit.
    SM00449. SPRY. 1 hit.
    [Graphical view]
    SUPFAMiSSF47986. SSF47986. 1 hit.
    SSF49899. SSF49899. 1 hit.
    PROSITEiPS50188. B302_SPRY. 1 hit.
    PS50824. DAPIN. 1 hit.
    PS50119. ZF_BBOX. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O15553-2) [UniParc]FASTAAdd to Basket

    Also known as: FL

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAKTPSDHLL STLEELVPYD FEKFKFKLQN TSVQKEHSRI PRSQIQRARP    50
    VKMATLLVTY YGEEYAVQLT LQVLRAINQR LLAEELHRAA IQEYSTQENG 100
    TDDSAASSSL GENKPRSLKT PDHPEGNEGN GPRPYGGGAA SLRCSQPEAG 150
    RGLSRKPLSK RREKASEGLD AQGKPRTRSP ALPGGRSPGP CRALEGGQAE 200
    VRLRRNASSA GRLQGLAGGA PGQKECRPFE VYLPSGKMRP RSLEVTISTG 250
    EKAPANPEIL LTLEEKTAAN LDSATEPRAR PTPDGGASAD LKEGPGNPEH 300
    SVTGRPPDTA ASPRCHAQEG DPVDGTCVRD SCSFPEAVSG HPQASGSRSP 350
    GCPRCQDSHE RKSPGSLSPQ PLPQCKRHLK QVQLLFCEDH DEPICLICSL 400
    SQEHQGHRVR PIEEVALEHK KKIQKQLEHL KKLRKSGEEQ RSYGEEKAVS 450
    FLKQTEALKQ RVQRKLEQVY YFLEQQEHFF VASLEDVGQM VGQIRKAYDT 500
    RVSQDIALLD ALIGELEAKE CQSEWELLQD IGDILHRAKT VPVPEKWTTP 550
    QEIKQKIQLL HQKSEFVEKS TKYFSETLRS EMEMFNVPEL IGAQAHAVNV 600
    ILDAETAYPN LIFSDDLKSV RLGNKWERLP DGPQRFDSCI IVLGSPSFLS 650
    GRRYWEVEVG DKTAWILGAC KTSISRKGNM TLSPENGYWV VIMMKENEYQ 700
    ASSVPPTRLL IKEPPKRVGI FVDYRVGSIS FYNVTARSHI YTFASCSFSG 750
    PLQPIFSPGT RDGGKNTAPL TICPVGGQGP D 781
    Length:781
    Mass (Da):86,444
    Last modified:January 1, 1998 - v1
    Checksum:i3692E5E6E9FC8204
    GO
    Isoform 2 (identifier: O15553-1) [UniParc]FASTAAdd to Basket

    Also known as: D2

    The sequence of this isoform differs from the canonical sequence as follows:
         93-303: Missing.

    Show »
    Length:570
    Mass (Da):64,494
    Checksum:i34C7379A052C74EF
    GO
    Isoform 3 (identifier: O15553-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         93-303: Missing.
         587-781: VPELIGAQAH...ICPVGGQGPD → DHSPQHGLGS...GADWRSGTCC

    Show »
    Length:445
    Mass (Da):50,837
    Checksum:iE157099AC115F36C
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti33 – 331V → L.
    Corresponds to variant rs11466016 [ dbSNP | Ensembl ].
    VAR_048398
    Natural varianti42 – 421R → W in arFMF.
    Corresponds to variant rs61754767 [ dbSNP | Ensembl ].
    VAR_028326
    Natural varianti108 – 1081S → R in arFMF. 1 Publication
    VAR_028327
    Natural varianti110 – 1101L → P in arFMF. 1 Publication
    Corresponds to variant rs11466018 [ dbSNP | Ensembl ].
    VAR_016824
    Natural varianti138 – 1381G → A Association with renal amyloidosis. 1 Publication
    VAR_016825
    Natural varianti148 – 1481E → Q in arFMF and adFMF; common mutation; associated with S-369 and Q-408 in cis; associated with I-694 in some patients. 6 Publications
    Corresponds to variant rs3743930 [ dbSNP | Ensembl ].
    VAR_009051
    Natural varianti148 – 1481E → V in arFMF. 1 Publication
    VAR_028328
    Natural varianti163 – 1631E → A in arFMF. 1 Publication
    VAR_028329
    Natural varianti167 – 1671E → D in arFMF. 1 Publication
    VAR_009052
    Natural varianti177 – 1771T → I in arFMF. 1 Publication
    VAR_028330
    Natural varianti202 – 2021R → Q.2 Publications
    Corresponds to variant rs224222 [ dbSNP | Ensembl ].
    VAR_009053
    Natural varianti230 – 2301E → K in arFMF. 1 Publication
    Corresponds to variant rs104895080 [ dbSNP | Ensembl ].
    VAR_016826
    Natural varianti267 – 2671T → I in arFMF. 2 Publications
    Corresponds to variant rs104895081 [ dbSNP | Ensembl ].
    VAR_009054
    Natural varianti319 – 3191E → K in arFMF. 1 Publication
    VAR_028331
    Natural varianti369 – 3691P → S in arFMF; reduced penetrance among Ashkenazi Jews; associated with Q-148 and Q-408 in cis. 2 Publications
    Corresponds to variant rs11466023 [ dbSNP | Ensembl ].
    VAR_009055
    Natural varianti408 – 4081R → Q in arFMF; associated with Q-148 and S-369 in cis. 2 Publications
    Corresponds to variant rs11466024 [ dbSNP | Ensembl ].
    VAR_009056
    Natural varianti440 – 4401Q → E.
    Corresponds to variant rs11466026 [ dbSNP | Ensembl ].
    VAR_024376
    Natural varianti474 – 4741E → K in arFMF. 1 Publication
    VAR_028332
    Natural varianti478 – 4781H → Y in adFMF; severe. 1 Publication
    VAR_028333
    Natural varianti479 – 4791F → L in arFMF. 2 Publications
    VAR_009057
    Natural varianti577 – 5771T → A Probable disease-associated mutation found in an autosomal dominant autoinflammatory disease with some similarities to familial Mediterranean fever. 1 Publication
    VAR_070795
    Natural varianti577 – 5771T → N Probable disease-associated mutation found in an autosomal dominant autoinflammatory disease with some similarities to familial Mediterranean fever. 1 Publication
    VAR_070796
    Natural varianti577 – 5771T → S Probable disease-associated mutation found in an autosomal dominant autoinflammatory disease with some similarities to familial Mediterranean fever. 1 Publication
    Corresponds to variant rs104895193 [ dbSNP | Ensembl ].
    VAR_070797
    Natural varianti585 – 5851F → L.
    Corresponds to variant rs11466043 [ dbSNP | Ensembl ].
    VAR_028334
    Natural varianti591 – 5911I → T in arFMF; unknown pathological significance. 1 Publication
    Corresponds to variant rs11466045 [ dbSNP | Ensembl ].
    VAR_016827
    Natural varianti632 – 6321G → S in arFMF. 1 Publication
    VAR_028335
    Natural varianti640 – 6401I → M in arFMF. 1 Publication
    VAR_028336
    Natural varianti641 – 6411I → F in arFMF. 1 Publication
    VAR_028337
    Natural varianti646 – 6461P → L in arFMF. 1 Publication
    VAR_028338
    Natural varianti649 – 6491L → P in arFMF. 1 Publication
    VAR_028339
    Natural varianti653 – 6531R → H in arFMF. 3 Publications
    VAR_016828
    Natural varianti656 – 6561E → A in arFMF. 1 Publication
    VAR_028340
    Natural varianti661 – 6611D → N in arFMF. 1 Publication
    VAR_028341
    Natural varianti675 – 6751S → N in arFMF. 2 Publications
    VAR_016829
    Natural varianti678 – 6781G → E in arFMF. 1 Publication
    VAR_028342
    Natural varianti680 – 6801M → I in arFMF and adFMF; reduced CASP1 interaction. 8 Publications
    Corresponds to variant rs28940580 [ dbSNP | Ensembl ].
    VAR_028343
    Natural varianti680 – 6801M → L in arFMF. 2 Publications
    VAR_016830
    Natural varianti681 – 6811T → I in arFMF. 2 Publications
    VAR_009059
    Natural varianti688 – 6881Y → C in arFMF. 1 Publication
    VAR_028344
    Natural varianti692 – 6921Missing in arFMF.
    VAR_009060
    Natural varianti694 – 6941M → I in arFMF and adFMF; associated with Q-148 in some patients. 7 Publications
    Corresponds to variant rs28940578 [ dbSNP | Ensembl ].
    VAR_009061
    Natural varianti694 – 6941M → K in arFMF. 1 Publication
    VAR_070798
    Natural varianti694 – 6941M → L in arFMF; no effect on CASP1 activation. 1 Publication
    VAR_028345
    Natural varianti694 – 6941M → V in arFMF and adFMF; very common mutation particularly in North African Jews; can be associated with amyloidosis development; reduced interaction with CASP1 (PubMed:16785446); no effect on interaction with CASP1, CASP5, NLRP1, NLRP2 or NLRP3 (PubMed:17431422). 11 Publications
    VAR_009062
    Natural varianti694 – 6941Missing in arFMF and adFMF. 2 Publications
    VAR_009063
    Natural varianti695 – 6951K → M in arFMF. 1 Publication
    Corresponds to variant rs104895094 [ dbSNP | Ensembl ].
    VAR_028346
    Natural varianti695 – 6951K → R in arFMF; reduced penetrance among Ashkenazi Jews. 3 Publications
    Corresponds to variant rs104895094 [ dbSNP | Ensembl ].
    VAR_009064
    Natural varianti702 – 7021S → C in one patient with familial Mediterranean fever. 1 Publication
    VAR_028347
    Natural varianti704 – 7041V → I in arFMF. 1 Publication
    VAR_028348
    Natural varianti705 – 7051P → S in arFMF. 1 Publication
    VAR_028349
    Natural varianti720 – 7201I → M in arFMF. 2 Publications
    VAR_028350
    Natural varianti726 – 7261V → A in arFMF; common mutation; in Iraqi and Ashkenazi Jews, Druze, Armenians; reduced CASP1 interaction; no effect on CASP1 activation. 7 Publications
    Corresponds to variant rs28940579 [ dbSNP | Ensembl ].
    VAR_009065
    Natural varianti743 – 7431F → L in arFMF. 1 Publication
    VAR_028351
    Natural varianti744 – 7441A → S in arFMF; uncertain pathological significance. 3 Publications
    Corresponds to variant rs61732874 [ dbSNP | Ensembl ].
    VAR_009066
    Natural varianti758 – 7581P → S in arFMF. 1 Publication
    VAR_028352
    Natural varianti761 – 7611R → H in arFMF. 4 Publications
    VAR_009067
    Natural varianti780 – 7801P → T in arFMF. 1 Publication
    VAR_028353

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei93 – 303211Missing in isoform 2 and isoform 3. CuratedVSP_008223Add
    BLAST
    Alternative sequencei587 – 781195VPELI…GQGPD → DHSPQHGLGSWEERDYTQHS MQGPKQGVPCLSLLSGQCNL APLNANAQDFFPYLIFLRSS GADWRSGTCC in isoform 3. CuratedVSP_047663Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF018080 mRNA. Translation: AAB70557.1.
    CH471112 Genomic DNA. Translation: EAW85382.1.
    CH471112 Genomic DNA. Translation: EAW85383.1.
    BC101511 mRNA. Translation: AAI01512.1.
    BC101537 mRNA. Translation: AAI01538.1.
    Y14441 mRNA. Translation: CAA74793.1.
    AJ003147 Genomic DNA. Translation: CAA05906.1.
    AF111163 Genomic DNA. Translation: AAD26152.1.
    AF301150 Genomic DNA. Translation: AAK97223.1.
    AF301151 Genomic DNA. Translation: AAK97224.1.
    CCDSiCCDS10498.1. [O15553-2]
    CCDS55981.1. [O15553-3]
    RefSeqiNP_000234.1. NM_000243.2. [O15553-2]
    NP_001185465.1. NM_001198536.1.
    UniGeneiHs.632221.

    Genome annotation databases

    EnsembliENST00000219596; ENSP00000219596; ENSG00000103313. [O15553-2]
    ENST00000536379; ENSP00000445079; ENSG00000103313. [O15553-1]
    ENST00000541159; ENSP00000438711; ENSG00000103313. [O15553-3]
    GeneIDi4210.
    KEGGihsa:4210.
    UCSCiuc002cun.1. human. [O15553-2]
    uc021tbx.1. human. [O15553-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    INFEVERS

    Repertory of FMF and hereditary autoinflammatory disorders mutations

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF018080 mRNA. Translation: AAB70557.1 .
    CH471112 Genomic DNA. Translation: EAW85382.1 .
    CH471112 Genomic DNA. Translation: EAW85383.1 .
    BC101511 mRNA. Translation: AAI01512.1 .
    BC101537 mRNA. Translation: AAI01538.1 .
    Y14441 mRNA. Translation: CAA74793.1 .
    AJ003147 Genomic DNA. Translation: CAA05906.1 .
    AF111163 Genomic DNA. Translation: AAD26152.1 .
    AF301150 Genomic DNA. Translation: AAK97223.1 .
    AF301151 Genomic DNA. Translation: AAK97224.1 .
    CCDSi CCDS10498.1. [O15553-2 ]
    CCDS55981.1. [O15553-3 ]
    RefSeqi NP_000234.1. NM_000243.2. [O15553-2 ]
    NP_001185465.1. NM_001198536.1.
    UniGenei Hs.632221.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2WL1 X-ray 1.35 A 586-776 [» ]
    ProteinModelPortali O15553.
    SMRi O15553. Positions 13-88, 586-776.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110374. 2 interactions.
    IntActi O15553. 2 interactions.
    MINTi MINT-206922.
    STRINGi 9606.ENSP00000219596.

    PTM databases

    PhosphoSitei O15553.

    Proteomic databases

    PaxDbi O15553.
    PRIDEi O15553.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000219596 ; ENSP00000219596 ; ENSG00000103313 . [O15553-2 ]
    ENST00000536379 ; ENSP00000445079 ; ENSG00000103313 . [O15553-1 ]
    ENST00000541159 ; ENSP00000438711 ; ENSG00000103313 . [O15553-3 ]
    GeneIDi 4210.
    KEGGi hsa:4210.
    UCSCi uc002cun.1. human. [O15553-2 ]
    uc021tbx.1. human. [O15553-1 ]

    Organism-specific databases

    CTDi 4210.
    GeneCardsi GC16M003295.
    GeneReviewsi MEFV.
    HGNCi HGNC:6998. MEFV.
    MIMi 134610. phenotype.
    249100. phenotype.
    608107. gene.
    neXtProti NX_O15553.
    Orphaneti 117. Behcet disease.
    342. Familial Mediterranean fever.
    329967. Intermittent hydrarthrosis.
    PharmGKBi PA30736.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG328286.
    HOGENOMi HOG000113552.
    HOVERGENi HBG006343.
    InParanoidi O15553.
    KOi K12803.
    OMAi PNLIFSD.
    OrthoDBi EOG7CCBQH.
    PhylomeDBi O15553.
    TreeFami TF351091.

    Enzyme and pathway databases

    Reactomei REACT_75808. The NLRP3 inflammasome.

    Miscellaneous databases

    EvolutionaryTracei O15553.
    GeneWikii MEFV.
    GenomeRNAii 4210.
    NextBioi 16586.
    PROi O15553.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O15553.
    Bgeei O15553.
    CleanExi HS_MEFV.
    Genevestigatori O15553.

    Family and domain databases

    Gene3Di 1.10.533.10. 1 hit.
    4.10.45.10. 1 hit.
    InterProi IPR001870. B30.2/SPRY.
    IPR003879. Butyrophylin.
    IPR008985. ConA-like_lec_gl_sf.
    IPR004020. DAPIN.
    IPR011029. DEATH-like_dom.
    IPR006574. PRY.
    IPR028841. Pyrin.
    IPR018355. SPla/RYanodine_receptor_subgr.
    IPR003877. SPRY_rcpt.
    IPR000315. Znf_B-box.
    [Graphical view ]
    PANTHERi PTHR24103:SF264. PTHR24103:SF264. 1 hit.
    Pfami PF13765. PRY. 1 hit.
    PF02758. PYRIN. 1 hit.
    PF00622. SPRY. 1 hit.
    PF00643. zf-B_box. 1 hit.
    [Graphical view ]
    PRINTSi PR01407. BUTYPHLNCDUF.
    SMARTi SM00336. BBOX. 1 hit.
    SM00589. PRY. 1 hit.
    SM00449. SPRY. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47986. SSF47986. 1 hit.
    SSF49899. SSF49899. 1 hit.
    PROSITEi PS50188. B302_SPRY. 1 hit.
    PS50824. DAPIN. 1 hit.
    PS50119. ZF_BBOX. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ARFMF ILE-680; VAL-694 AND ALA-726.
      Tissue: Leukocyte.
    2. "Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus."
      Papin S., Duquesnoy P., Cazeneuve C., Pantel J., Coppey-Moisan M., Dargemont C., Amselem S.
      Hum. Mol. Genet. 9:3001-3009(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 2), TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
      Tissue: Leukocyte.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLN-202.
      Tissue: Placenta.
    5. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 305-754, VARIANTS ARFMF ILE-680 AND ILE-694.
    6. "Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease."
      Timmann C., Muntau B., Kuhne K., Gelhaus A., Horstmann R.D.
      Mutat. Res. 479:235-239(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 96-303 AND 599-781, VARIANTS ARFMF LYS-230 AND HIS-653.
      Tissue: Blood.
    7. "The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators."
      Centola M., Wood G., Frucht D.M., Galon J., Aringer M., Farrell C., Kingma D.W., Horwitz M.E., Mansfield E., Holland S.M., O'Shea J.J., Rosenberg H.F., Malech H.L., Kastner D.L.
      Blood 95:3223-3231(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INDUCTION.
    8. "Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin."
      Tidow N., Chen X., Muller C., Kawano S., Gombart A.F., Fischel-Ghodsian N., Koeffler H.P.
      Blood 95:1451-1455(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    9. "The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments."
      Mansfield E., Chae J.J., Komarow H.D., Brotz T.M., Frucht D.M., Aksentijevich I., Kastner D.L.
      Blood 98:851-859(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    10. "Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis."
      Richards N., Schaner P., Diaz A., Stuckey J., Shelden E., Wadhwa A., Gumucio D.L.
      J. Biol. Chem. 276:39320-39329(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PYCARD, SUBCELLULAR LOCATION.
    11. "Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway."
      Shoham N.G., Centola M., Mansfield E., Hull K.M., Wood G., Wise C.A., Kastner D.L.
      Proc. Natl. Acad. Sci. U.S.A. 100:13501-13506(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PSTPIP1.
    12. "Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever."
      Notarnicola C., Didelot M.-N., Kone-Paut I., Seguret F., Demaille J., Touitou I.
      Arthritis Rheum. 46:2785-2793(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE.
    13. "Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization."
      Yu J.W., Wu J., Zhang Z., Datta P., Ibrahimi I., Taniguchi S., Sagara J., Fernandes-Alnemri T., Alnemri E.S.
      Cell Death Differ. 13:236-249(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, MUTAGENESIS OF LEU-16 AND PHE-24.
    14. "The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production."
      Chae J.J., Wood G., Masters S.L., Richard K., Park G., Smith B.J., Kastner D.L.
      Proc. Natl. Acad. Sci. U.S.A. 103:9982-9987(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CASP1, CHARACTERIZATION OF VARIANTS ILE-680; VAL-694 AND ALA-726.
    15. "The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing."
      Papin S., Cuenin S., Agostini L., Martinon F., Werner S., Beer H.D., Grutter C., Grutter M., Tschopp J.
      Cell Death Differ. 14:1457-1466(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH CASP1; CASP5; NLRP1; NLRP2; NLRP3 AND IL1B, CHARACTERIZATION OF VARIANT VAL-694.
    16. "Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants."
      Yu J.W., Fernandes-Alnemri T., Datta P., Wu J., Juliana C., Solorzano L., McCormick M., Zhang Z., Alnemri E.S.
      Mol. Cell 28:214-227(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBUNIT, INTERACTION WITH PYCARD AND PSTPIP1, INDUCTION BY RETROVIRAL INFECTION.
    17. "The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment."
      Chae J.J., Wood G., Richard K., Jaffe H., Colburn N.T., Masters S.L., Gumucio D.L., Shoham N.G., Kastner D.L.
      Blood 112:1794-1803(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH RELA AND NFKBIA, PROBABLE CLEAVAGE BY CASP-1, MUTAGENESIS OF ASP-330.
    18. "Pyrin and ASC co-localize to cellular sites that are rich in polymerizing actin."
      Waite A.L., Schaner P., Hu C., Richards N., Balci-Peynircioglu B., Hong A., Fox M., Gumucio D.L.
      Exp. Biol. Med. (Maywood) 234:40-52(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PSTPIP1; VASP AND ACTR3.
    19. Cited for: FUNCTION, SUBCELLULAR LOCATION.
    20. "The crystal structure of human pyrin b30.2 domain: implications for mutations associated with familial Mediterranean fever."
      Weinert C., Grutter C., Roschitzki-Voser H., Mittl P.R., Grutter M.G.
      J. Mol. Biol. 394:226-236(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.35 ANGSTROMS) OF 586-776.
    21. Cited for: VARIANTS ARFMF, VARIANT GLN-202.
    22. "Pyrin/marenostrin mutations in familial Mediterranean fever."
      Booth D.R., Gillmore J.D., Booth S.E., Pepys M.B., Hawkins P.N.
      QJM 91:603-606(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARFMF ILE-680; ILE-681; ILE-694; VAL-694; MET-694 DEL AND ALA-726.
    23. "Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population."
      Aksentijevich I., Torosyan Y., Samuels J., Centola M., Pras E., Chae J.J., Oddoux C., Wood G., Azzaro M.P., Palumbo G., Giustolisi R., Pras M., Ostrer H., Kastner D.L.
      Am. J. Hum. Genet. 64:949-962(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARFMF.
    24. "MEFV-Gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications."
      Cazeneuve C., Sarkisian T., Pecheux C., Dervichian M., Nedelec B., Reinert P., Ayvazyan A., Kouyoumdjian J.-C., Ajrapetyan H., Delpech M., Goossens M., Dode C., Grateau G., Amselem S.
      Am. J. Hum. Genet. 65:88-97(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARFMF GLN-148; SER-369; GLN-408; LEU-479; ILE-680; VAL-694; ALA-726 AND HIS-761.
    25. "Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis."
      Shohat M., Magal N., Shohat T., Chen X., Dagan T., Mimouni A., Danon Y., Lotan R., Ogur G., Sirin A., Schlezinger M., Halpern G.J., Schwabe A., Kastner D., Rotter J.I., Fischel-Ghodsian N.
      Eur. J. Hum. Genet. 7:287-292(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARFMF ILE-680; ILE-694; VAL-694 AND ALA-726.
    26. "MEFV mutations in Turkish patients suffering from familial Mediterranean fever."
      Akar N., Misiroglu M., Yalcinkaya F., Akar E., Cakar N., Tumer N., Akcakus M., Tastan H., Matzner Y.
      Hum. Mutat. 15:118-119(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARFMF GLN-148; ILE-680; ILE-694; VAL-694; ARG-695; ALA-726 AND HIS-761.
    27. "The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?"
      Ben-Chetrit E., Lerer I., Malamud E., Domingo C., Abeliovich D.
      Hum. Mutat. 15:385-386(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLN-148.
    28. "Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity."
      Domingo C., Touitou I., Bayou A., Ozen S., Notarnicola C., Dewalle M., Demaille J., Buades R., Sayadat C., Levy M., Ben-Chetrit E.
      Eur. J. Hum. Genet. 8:242-246(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARFMF PRO-110; GLN-148 AND VAL-694.
    29. "Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever."
      Dode C., Pecheux C., Cazeneuve C., Cattan D., Dervichian M., Goossens M., Delpech M., Amselem S., Grateau G.
      Am. J. Med. Genet. 92:241-246(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARFMF ASN-675 AND LEU-680.
    30. "The genetic basis of autosomal dominant familial Mediterranean fever."
      Booth D.R., Gillmore J.D., Lachmann H.J., Booth S.E., Bybee A., Soytuerk M., Akar S., Pepys M.B., Tunca M., Hawkins P.N.
      QJM 93:217-221(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ADFMF GLN-148; ILE-680; ILE-694; MET-694 DEL AND VAL-694.
    31. "The spectrum of familial mediterranean fever (FMF) mutations."
      Touitou I.
      Eur. J. Hum. Genet. 9:473-483(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON ARFMF VARIANTS.
    32. "Is the Ala138Gly alteration of MEFV gene important for amyloidosis?"
      Akar E., Yalcinkaya F., Akar N.
      Hum. Mutat. 17:71-71(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FMF ALA-138.
    33. "I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?"
      Aldea A., Casademont J., Arostegui J.I., Rius J., Maso M., Vives J., Yague J.
      Hum. Mutat. 20:148-150(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FMF THR-591.
    34. "A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?"
      Aldea A., Campistol J.M., Arostegui J.I., Rius J., Maso M., Vives J., Yaguee J.
      Am. J. Med. Genet. A 124:67-73(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ADFMF TYR-478.
    35. "The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at the MEFV locus."
      Aldea A., Calafell F., Arostegui J.I., Lao O., Rius J., Plaza S., Maso M., Vives J., Buades J., Yaguee J.
      Hum. Mutat. 23:399-399(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARFMF ALA-163 AND LYS-319, VARIANT SER-744.
    36. "Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations."
      Medlej-Hashim M., Serre J.-L., Corbani S., Saab O., Jalkh N., Delague V., Chouery E., Salem N., Loiselet J., Lefranc G., Megarbane A.
      Eur. J. Med. Genet. 48:412-420(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARFMF ARG-108; GLN-148; VAL-148; ASP-167; ILE-177; ILE-267; LYS-474; LEU-479; HIS-653; ILE-680; ILE-694; VAL-694; ARG-695; MET-720; ALA-726; SER-744 AND HIS-761.
    37. "Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF)."
      Goulielmos G.N., Fragouli E., Aksentijevich I., Sidiropoulos P., Boumpas D.T., Eliopoulos E.
      Biochem. Biophys. Res. Commun. 345:1326-1332(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARFMF SER-632; MET-640; PHE-641; LEU-646; PRO-649; HIS-653; ALA-656; ASN-661; ASN-675; GLU-678; LEU-680; ILE-681; CYS-688; ILE-694; LEU-694; VAL-694; MET-695; ARG-695; ILE-704; SER-705; MET-720; ALA-726; LEU-743; SER-744; SER-758; HIS-761 AND THR-780, VARIANT CYS-702.
    38. "Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey."
      Yesilada E., Taskapan H., Gulbay G.
      Gene 511:371-374(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARFMF LYS-694.
    39. Cited for: VARIANTS ILE-267; SER-369; GLN-408; ALA-577; ASN-577 AND SER-577, INVOLVEMENT IN AUTOSOMAL DOMINANT INFLAMMATORY DISEASE.

    Entry informationi

    Entry nameiMEFV_HUMAN
    AccessioniPrimary (citable) accession number: O15553
    Secondary accession number(s): D3DUC0
    , F5H0Q3, Q3MJ84, Q96PN4, Q96PN5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 150 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3