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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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri439 – 48143B box-type
Add
BLAST

GO - Molecular functioni

  1. actin binding Source: UniProtKB
  2. zinc ion binding Source: UniProtKB
Complete GO annotation...

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

Names & Taxonomyi

Protein namesi
Recommended name:
Pyrin
Alternative name(s):
Marenostrin
Gene namesi
Name:Mefv
OrganismiMus musculus (Mouse)
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.

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
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 – 767767Pyrin
PRO_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.

Structurei

3D structure databases

ProteinModelPortaliQ9JJ26.
SMRiQ9JJ26. Positions 13-84.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 9292DAPIN
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni489 – 647159Required for homotrimerization and induction of pyroptosomes By similarity
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili481 – 51030 Reviewed prediction
Add
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 DAPIN domain.

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

« Hide

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

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti543 – 5431E → G in AAF03766. 1 Publication
Sequence conflicti565 – 5651E → G in AAF03766. 1 Publication

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...

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

« 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: July 9, 2014
This is version 95 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).

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

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