Mefv Mediterranean fever [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mefvprovided by MGI
Official Full Name: Mediterranean feverprovided by MGI
Primary source: MGI:MGI:1859396
See related: Ensembl:ENSMUSG00000022534 AllianceGenome:MGI:1859396
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: FMF; pyrin; TRIM20
Summary: Predicted to enable actin binding activity; identical protein binding activity; and ubiquitin protein ligase activity. Predicted to be involved in several processes, including negative regulation of NLRP3 inflammasome complex assembly; negative regulation of cytokine production; and pyroptosome complex assembly. Predicted to act upstream of or within immune system process. Predicted to be located in nucleus. Predicted to be part of microtubule associated complex. Predicted to be active in cytosol and nucleoplasm. Is expressed in bladder; female associated reproductive structure; ureter; and urethra of female. Used to study familial Mediterranean fever. Human ortholog(s) of this gene implicated in several diseases, including Henoch-Schoenlein purpura; Sweet syndrome; asthma; familial Mediterranean fever; and hematologic cancer (multiple). Orthologous to human MEFV (MEFV innate immuity regulator, pyrin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in spleen adult (RPKM 1.2), liver E18 (RPKM 0.4) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A1; 16 2.18 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (3524838..3536073, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (3706974..3718211, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phosphoprotein phosphatase activity positively regulates oligomeric pyrin to trigger inflammasome assembly in phagocytes.
Title: Phosphoprotein phosphatase activity positively regulates oligomeric pyrin to trigger inflammasome assembly in phagocytes.
AIM2 forms a complex with pyrin and ZBP1 to drive PANoptosis and host defence.
Title: AIM2 forms a complex with pyrin and ZBP1 to drive PANoptosis and host defence.
RIPK3 Promotes Mefv Expression and Pyrin Inflammasome Activation via Modulation of mTOR Signaling.
Title: RIPK3 Promotes Mefv Expression and Pyrin Inflammasome Activation via Modulation of mTOR Signaling.
data show that TNF is a critical modulator of pyrin expression, inflammasome activation, and pyrin-inflammasomopathy.
Title: TNF/TNFR axis promotes pyrin inflammasome activation and distinctly modulates pyrin inflammasomopathy.
Pyrin (MEFV) is required for inflammasome activation and IL18 maturation, which promote intestinal barrier integrity and prevent colon inflammation and tumorigenesis.
Title: Pyrin Inflammasome Regulates Tight Junction Integrity to Restrict Colitis and Tumorigenesis.
Mechanistically, Yersinia pseudotuberculosis YopM recruits and activates the mouse host kinases PRK1 and PRK2 to negatively regulate pyrin by phosphorylation.
Title: The Yersinia Virulence Factor YopM Hijacks Host Kinases to Inhibit Type III Effector-Triggered Activation of the Pyrin Inflammasome.
These results are consistent with a model in which pyrin acts to limit the release of IL-1beta generated by activation and assembly of inflammasomes in response to subclinical immune challenges.
Title: Genetic loss of murine pyrin, the Familial Mediterranean Fever protein, increases interleukin-1β levels.
pyrin has a critical role in the innate immune response, possibly by acting on ASC, a known caspase-1 activator
Title: Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (8) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within immune system process	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of NLRP3 inflammasome complex assembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cytokine production involved in inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of interleukin-1 beta production	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of interleukin-12 production	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of macrophage inflammatory protein 1 alpha production	ISO Inferred from Sequence Orthology more info
involved_in pattern recognition receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cysteine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-1 beta production	ISO Inferred from Sequence Orthology more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in pyroptosis	NAS Non-traceable Author Statement more info	PubMed
involved_in pyroptosome complex assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of interleukin-1 beta production	ISO Inferred from Sequence Orthology more info
involved_in response to type II interferon	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of canonical inflammasome complex	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in microtubule	NAS Non-traceable Author Statement more info	PubMed
part_of microtubule associated complex	ISO Inferred from Sequence Orthology more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pyrin

Names: familial mediterranean fever; marenostrin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001161790.1 → NP_001155262.1 pyrin isoform 1

See identical proteins and their annotated locations for NP_001155262.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC139347, AV372338, BB624975, BC108994, CJ272618

Consensus CDS

CCDS49745.1

UniProtKB/TrEMBL

Q32MT0

Related

ENSMUSP00000097795.3, ENSMUST00000100222.4

Conserved Domains (2) summary

cd00021
Location:472 → 511

BBOX; B-Box-type zinc finger; zinc binding domain (CHC3H2); often present in combination with other motifs, like RING zinc finger, NHL motif, coiled-coil or RFP domain in functionally unrelated proteins, most likely mediating protein-protein interaction.

pfam02758
Location:7 → 87

PYRIN; PAAD/DAPIN/Pyrin domain
NM_001161791.1 → NP_001155263.1 pyrin isoform 2

See identical proteins and their annotated locations for NP_001155263.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences compared to variant 1, one of which results in a frameshift. This results in a shorter isoform (2) with a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC139347, AV372338, BB624975, BC108993, CJ272618

Consensus CDS

CCDS88864.1

UniProtKB/TrEMBL

Q32MT1

Related

ENSMUSP00000154892.2, ENSMUST00000229725.2

Conserved Domains (2) summary

cd00021
Location:442 → 481

BBOX; B-Box-type zinc finger; zinc binding domain (CHC3H2); often present in combination with other motifs, like RING zinc finger, NHL motif, coiled-coil or RFP domain in functionally unrelated proteins, most likely mediating protein-protein interaction.

pfam02758
Location:7 → 87

PYRIN; PAAD/DAPIN/Pyrin domain
NM_019453.2 → NP_062326.2 pyrin isoform 3

See identical proteins and their annotated locations for NP_062326.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1.

Source sequence(s)

AC139347

Consensus CDS

CCDS27907.1

UniProtKB/Swiss-Prot

E9QN30, Q9JJ26

Related

ENSMUSP00000023180.8, ENSMUST00000023180.15

Conserved Domains (2) summary

cd00021
Location:442 → 481

BBOX; B-Box-type zinc finger; zinc binding domain (CHC3H2); often present in combination with other motifs, like RING zinc finger, NHL motif, coiled-coil or RFP domain in functionally unrelated proteins, most likely mediating protein-protein interaction.

pfam02758
Location:7 → 87

PYRIN; PAAD/DAPIN/Pyrin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

3524838..3536073 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030249188.2 → XP_030105048.1 pyrin isoform X2

Conserved Domains (3) summary

cd08321
Location:6 → 88

Pyrin_ASC-like; Pyrin Death Domain found in ASC

pfam17649
Location:515 → 587

VPS38; Vacuolar protein sorting 38

cl00034
Location:472 → 511

Bbox_SF; B-box-type zinc finger superfamily
XM_006522361.4 → XP_006522424.1 pyrin isoform X1

Conserved Domains (3) summary

PRK03918
Location:457 → 645

PRK03918; DNA double-strand break repair ATPase Rad50

cd08321
Location:6 → 88

Pyrin_ASC-like; Pyrin Death Domain found in ASC

cl00034
Location:442 → 481

Bbox_SF; B-box-type zinc finger superfamily
XM_030249189.2 → XP_030105049.1 pyrin isoform X3

Conserved Domains (3) summary

PRK03918
Location:487 → 675

PRK03918; DNA double-strand break repair ATPase Rad50

cd08321
Location:6 → 88

Pyrin_ASC-like; Pyrin Death Domain found in ASC

cl00034
Location:472 → 511

Bbox_SF; B-box-type zinc finger superfamily