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Q9JJ26

- MEFV_MOUSE

UniProt

Q9JJ26 - MEFV_MOUSE

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Protein

Pyrin

Gene

Mefv

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

Keywords - Biological processi

Immunity, Inflammatory response, Innate immunity

Keywords - Ligandi

Actin-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_198644. The NLRP3 inflammasome.

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. cell projection Source: UniProtKB-KW
  2. cytoplasm Source: UniProtKB-KW
  3. microtubule Source: UniProtKB-KW
  4. microtubule associated complex Source: UniProtKB
  5. nucleus Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiQ9JJ26.
CleanExiMM_MEFV.
ExpressionAtlasiQ9JJ26. baseline and differential.
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 4-89, 439-607.
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.
GeneTreeiENSGT00760000118993.
HOGENOMiHOG000113552.
HOVERGENiHBG006343.
InParanoidiQ9JJ26.
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

« Hide

        10         20         30         40         50
MAKTLGDHLL NTLEELLPYD FEKFKFKLQN TSLEKGHSKI PRGHMQMARP
60 70 80 90 100
VKLASLLITY YGEEYAVRLT LQILRATNQR QLAEELRKAT GTEHLIEENR
110 120 130 140 150
VGGSVQSSVE NKAKSVKVPD VPEGDGTQQN NDESDTLPSS QAEVGKGPQK
160 170 180 190 200
KSLTKRKDQR GPESLDSQTK PWTRSTAPLY RRTQGTQSPG DKESTASAQL
210 220 230 240 250
RRNVSSAGRL QGLYNNAPGR RESKKAEVYV YLPSGKKRPR SLEITTYSRE
260 270 280 290 300
GEPPNSEVLP TQEETRNGSL IRMRTATLNG RTTGALEKGT GIPEHSMVLD
310 320 330 340 350
EKTFRNMSSK TSLIGEERCP TSWTENGNGS PETTESSGET AGSILSDPEV
360 370 380 390 400
PLSLCEKPAK TPEDPASLGQ AACEGRSQDK AVCPLCHTQE GDLRGDTCVQ
410 420 430 440 450
SSCSCSIAPG DPKASGRCSI CFQCQGLLAR KSCEAQSPQS LPQCPRHMKQ
460 470 480 490 500
VLLLFCEDHR EPICLICRLS LEHQGHRVRP IEEAALEYKE QIREQLERLR
510 520 530 540 550
EMRGYVEEHR LQGDKKTDDF LKQTEIQKQK ISCPLEKLYQ LLEKQEQLFV
560 570 580 590 600
TWLQELSQTI SKVRETYYTR VSLLDEMIEE LEAKQDQPEW DLMQDIGITL
610 620 630 640 650
HRAKMMSASE LLDTPPGVKE KLHLLYQKSK SVEKNMQCFS EMLSSEMAFS
660 670 680 690 700
ASDVAKWEGR QPSATQVQGL VPTVHLKCDG AHTQDCDVVF YPEREAGGSE
710 720 730 740 750
PKDYLHPQPA QDTPELHEIH SRNNKRKFKS FLKWKPSFSR TDWRLRTCCY
760
RDLDQAAAHP NLIFSMI
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 4-89, 439-607.
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 ENSGT00760000118993.
HOGENOMi HOG000113552.
HOVERGENi HBG006343.
InParanoidi Q9JJ26.
KOi K12803.
OrthoDBi EOG7CCBQH.

Enzyme and pathway databases

Reactomei REACT_198644. The NLRP3 inflammasome.

Miscellaneous databases

NextBioi 311340.
PROi Q9JJ26.
SOURCEi Search...

Gene expression databases

Bgeei Q9JJ26.
CleanExi MM_MEFV.
ExpressionAtlasi Q9JJ26. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 98 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