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

Summary

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

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_086028.1 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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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)

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

NC_086028.1 Reference GRCr8

Range

12288514..12303337

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_017597488.3 → XP_017452977.1 pyrin isoform X2

UniProtKB/Swiss-Prot

A0A0G2JYG3, Q9JJ25