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Q9JJ26 (MEFV_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Pyrin
Alternative name(s):
Marenostrin
Gene names
Name:Mefv
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length767 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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.

Subcellular location

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.

Tissue specificity

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

Domain

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.

Disruption phenotype

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. Ref.3

Sequence similarities

Contains 1 B box-type zinc finger.

Contains 1 DAPIN domain.

Caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 767767Pyrin
PRO_0000220365

Regions

Domain1 – 9292DAPIN
Zinc finger439 – 48143B box-type
Region489 – 647159Required for homotrimerization and induction of pyroptosomes By similarity
Coiled coil481 – 51030 Potential

Experimental info

Sequence conflict5431E → G in AAF03766. Ref.1
Sequence conflict5651E → G in AAF03766. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9JJ26 [UniParc].

Last modified July 27, 2011. Version 2.
Checksum: 828E59E4E8DF5549

FASTA76786,409
        10         20         30         40         50         60 
MAKTLGDHLL NTLEELLPYD FEKFKFKLQN TSLEKGHSKI PRGHMQMARP VKLASLLITY 

        70         80         90        100        110        120 
YGEEYAVRLT LQILRATNQR QLAEELRKAT GTEHLIEENR VGGSVQSSVE NKAKSVKVPD 

       130        140        150        160        170        180 
VPEGDGTQQN NDESDTLPSS QAEVGKGPQK KSLTKRKDQR GPESLDSQTK PWTRSTAPLY 

       190        200        210        220        230        240 
RRTQGTQSPG DKESTASAQL RRNVSSAGRL QGLYNNAPGR RESKKAEVYV YLPSGKKRPR 

       250        260        270        280        290        300 
SLEITTYSRE GEPPNSEVLP TQEETRNGSL IRMRTATLNG RTTGALEKGT GIPEHSMVLD 

       310        320        330        340        350        360 
EKTFRNMSSK TSLIGEERCP TSWTENGNGS PETTESSGET AGSILSDPEV PLSLCEKPAK 

       370        380        390        400        410        420 
TPEDPASLGQ AACEGRSQDK AVCPLCHTQE GDLRGDTCVQ SSCSCSIAPG DPKASGRCSI 

       430        440        450        460        470        480 
CFQCQGLLAR KSCEAQSPQS LPQCPRHMKQ VLLLFCEDHR EPICLICRLS LEHQGHRVRP 

       490        500        510        520        530        540 
IEEAALEYKE QIREQLERLR EMRGYVEEHR LQGDKKTDDF LKQTEIQKQK ISCPLEKLYQ 

       550        560        570        580        590        600 
LLEKQEQLFV TWLQELSQTI SKVRETYYTR VSLLDEMIEE LEAKQDQPEW DLMQDIGITL 

       610        620        630        640        650        660 
HRAKMMSASE LLDTPPGVKE KLHLLYQKSK SVEKNMQCFS EMLSSEMAFS ASDVAKWEGR 

       670        680        690        700        710        720 
QPSATQVQGL VPTVHLKCDG AHTQDCDVVF YPEREAGGSE PKDYLHPQPA QDTPELHEIH 

       730        740        750        760 
SRNNKRKFKS FLKWKPSFSR TDWRLRTCCY RDLDQAAAHP NLIFSMI 

« Hide

References

« Hide 'large scale' references
[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]"Lineage-specific biology revealed by a finished genome assembly of the mouse."
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. expand/collapse author list , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P.
PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF143409 mRNA. Translation: AAF03766.1.
AC139347 Genomic DNA. No translation available.
RefSeqNP_062326.2. NM_019453.2.
UniGeneMm.143718.

3D structure databases

ProteinModelPortalQ9JJ26.
SMRQ9JJ26. Positions 13-84, 369-436, 439-481.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ9JJ26.

Proteomic databases

PRIDEQ9JJ26.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000023180; ENSMUSP00000023180; ENSMUSG00000022534.
GeneID54483.
KEGGmmu:54483.
UCSCuc007xym.2. mouse.

Organism-specific databases

CTD4210.
MGIMGI:1859396. Mefv.

Phylogenomic databases

eggNOGNOG328286.
GeneTreeENSGT00730000110268.
HOGENOMHOG000113552.
HOVERGENHBG006343.
KOK12803.
OrthoDBEOG7CCBQH.

Gene expression databases

ArrayExpressQ9JJ26.
BgeeQ9JJ26.
CleanExMM_MEFV.
GenevestigatorQ9JJ26.

Family and domain databases

Gene3D1.10.533.10. 1 hit.
4.10.45.10. 1 hit.
InterProIPR004020. DAPIN.
IPR011029. DEATH-like_dom.
IPR028841. Pyrin.
IPR000315. Znf_B-box.
[Graphical view]
PANTHERPTHR24103:SF85. PTHR24103:SF85. 1 hit.
PfamPF02758. PYRIN. 1 hit.
PF00643. zf-B_box. 1 hit.
[Graphical view]
SMARTSM00336. BBOX. 1 hit.
[Graphical view]
SUPFAMSSF47986. SSF47986. 1 hit.
PROSITEPS50824. DAPIN. 1 hit.
PS50119. ZF_BBOX. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio311340.
PROQ9JJ26.
SOURCESearch...

Entry information

Entry nameMEFV_MOUSE
AccessionPrimary (citable) accession number: Q9JJ26
Secondary accession number(s): E9QN30
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: July 27, 2011
Last modified: April 16, 2014
This is version 92 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot