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Mefv MEFV innate immunity regulator, pyrin [ Rattus norvegicus (Norway rat) ]

Gene ID: 58923, updated on 2-Nov-2024

Summary

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Official Symbol
Mefvprovided by RGD
Official Full Name
MEFV innate immunity regulator, pyrinprovided by RGD
Primary source
RGD:61889
See related
EnsemblRapid:ENSRNOG00000008134 AllianceGenome:RGD:61889
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
pyrin
Summary
Predicted to enable actin binding activity; identical protein binding activity; and ubiquitin protein ligase activity. Involved in response to lipopolysaccharide and response to silicon dioxide. Predicted to be located in nucleus. Predicted to be part of canonical inflammasome complex and microtubule associated complex. Predicted to be active in cytosol and nucleoplasm. 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 immunity regulator, pyrin). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in Spleen (RPKM 72.5), Thymus (RPKM 22.4) and 6 other tissues See more
Orthologs
human mouse all
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Genomic context

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See Mefv in Genome Data Viewer
Location:
10q12
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 10 NC_086028.1 (12288514..12303337)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 10 NC_051345.1 (11786948..11796977)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 10 NC_005109.4 (12045813..12056229)

Chromosome 10 - NC_086028.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102551940 Neighboring gene zinc finger protein 263 Neighboring gene uncharacterized LOC134480756 Neighboring gene uncharacterized LOC134480758 Neighboring gene olfactory receptor family 1 subfamily F member 35, pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. Increased frequency of Mediterranean fever gene variants in multiple myeloma. Celik S, et al. Oncol Lett, 2014 Oct. PMID 25202401, Free PMC Article
  2. Mediterranean Fever gene analysis in the azeri turk population with familial mediterranean Fever: evidence for new mutations associated with disease. Mohammadnejad L, et al. Cell J, 2013 Summer. PMID 23862117, Free PMC Article
  3. High Frequency of Inherited Variants in the MEFV Gene in Acute Lymphocytic Leukemia. Sayan O, et al. Indian J Hematol Blood Transfus, 2011 Sep. PMID 22942567, Free PMC Article
  4. Pulmonary manifestations and function tests in children genetically diagnosed with FMF. Brik R, et al. Pediatr Pulmonol, 2003 Jun. PMID 12746942
  5. Exposure in vivo to silica or lipopolysaccharide produces transient or sustained upregulation, respectively, of PYPAF7 and MEFV genes in bronchoalveolar lavage cells in rats. Rao KM, et al. J Toxicol Environ Health A, 2006 Mar. PMID 16574623

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables actin binding ISO
Inferred from Sequence Orthology
more info
  
enables actin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in inflammatory response ISO
Inferred from Sequence Orthology
more info
  
involved_in inflammatory response ISS
Inferred from Sequence or Structural Similarity
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 NLRP3 inflammasome complex assembly ISS
Inferred from Sequence or Structural Similarity
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 cytokine production involved in inflammatory response ISS
Inferred from Sequence or Structural Similarity
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 positive regulation of autophagy ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of autophagy ISS
Inferred from Sequence or Structural Similarity
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of interleukin-1 beta production ISO
Inferred from Sequence Orthology
more info
  
involved_in pyroptosome complex assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in pyroptosome complex assembly ISS
Inferred from Sequence or Structural Similarity
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 regulation of interleukin-1 beta production ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to lipopolysaccharide IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in response to silicon dioxide IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in response to type II interferon ISO
Inferred from Sequence Orthology
more info
  
involved_in response to type II interferon ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in autophagosome IEA
Inferred from Electronic Annotation
more info
  
part_of canonical inflammasome complex ISO
Inferred from Sequence Orthology
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 cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasmic vesicle 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 lamellipodium IEA
Inferred from Electronic Annotation
more info
  
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
part_of microtubule associated complex ISO
Inferred from Sequence Orthology
more info
  
part_of microtubule associated complex ISS
Inferred from Sequence or Structural Similarity
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
  
located_in ruffle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
pyrin
Names
MEFV innate immuity regulator, pyrin
MEFV, pyrin innate immunity regulator
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)

  1. NM_031634.2 → NP_113822.2  pyrin

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000010
    UniProtKB/Swiss-Prot
    A0A0G2JYG3, Q9JJ25
    UniProtKB/TrEMBL
    A6K4V5
    Conserved Domains (2) summary
    cd19771
    Location:442 → 481
    Bbox2_TRIM20; B-box-type 2 zinc finger found in tripartite motif-containing protein TRIM20 and similar proteins
    cl14633
    Location:7 → 88
    DD; Death Domain Superfamily of protein-protein interaction domains

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086028.1 Reference GRCr8

    Range
    12288514..12303337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039086716.2 → XP_038942644.1  pyrin isoform X1

    UniProtKB/Swiss-Prot
    A0A0G2JYG3, Q9JJ25
    UniProtKB/TrEMBL
    A0A0G2JXG0
    Related
    ENSRNOP00000070256.2, ENSRNOT00000081191.3
    Conserved Domains (2) summary
    cd19771
    Location:472 → 511
    Bbox2_TRIM20; B-box-type 2 zinc finger found in tripartite motif-containing protein TRIM20 and similar proteins
    cl14633
    Location:7 → 88
    DD; Death Domain Superfamily of protein-protein interaction domains

  2. XM_017597488.3 → XP_017452977.1  pyrin isoform X2

    UniProtKB/Swiss-Prot
    A0A0G2JYG3, Q9JJ25
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9JJ25.2 GenPept UniProtKB/Swiss-Prot:Q9JJ25

Gene LinkOut

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