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MEFV MEFV, pyrin innate immunity regulator [ Homo sapiens (human) ]

Gene ID: 4210, updated on 12-Aug-2018

Summary

Official Symbol
MEFVprovided by HGNC
Official Full Name
MEFV, pyrin innate immunity regulatorprovided by HGNC
Primary source
HGNC:HGNC:6998
See related
Ensembl:ENSG00000103313 MIM:608107; Vega:OTTHUMG00000129324
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FMF; MEF; TRIM20
Summary
This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]
Expression
Biased expression in appendix (RPKM 3.9), spleen (RPKM 3.2) and 11 other tissues See more
Orthologs

Genomic context

See MEFV in Genome Data Viewer
Location:
16p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (3242028..3256776, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3292028..3306648, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 1 subfamily F member 2 pseudogene Neighboring gene zinc finger protein 200 Neighboring gene long intergenic non-protein coding RNA 921 Neighboring gene zinc finger protein 263 Neighboring gene tigger transposable element derived 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Inflammasomes, organism-specific biosystem (from REACTOME)
    Inflammasomes, organism-specific biosystemIn contrast to NOD1/2 some NLRPs function as large macromolecular complexes called 'Inflammasomes'. These multiprotein platforms control activation of the cysteinyl aspartate protease caspase-1 and t...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystem (from WikiPathways)
    Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystemThe NOD (nucleotide-binding oligomerization domain) proteins NOD1 and NOD2 have important roles in innate immunity as sensors of microbial components derived from bacterial peptidoglycan. The importa...
  • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
  • The NLRP3 inflammasome, organism-specific biosystem (from REACTOME)
    The NLRP3 inflammasome, organism-specific biosystemThe NLRP3 (Cryopyrin) inflammasome is currently the best characterized. It consists of NLRP3, ASC (PYCARD) and procaspase-1; CARD8 (Cardinal) is also suggested to be a component. It is activated by a...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126560, MGC126586

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
autophagosome IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
microtubule associated complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule associated complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
ruffle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pyrin
Names
Mediterranean fever
marenostrin

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_007871.1 RefSeqGene

    Range
    5001..19600
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_190

mRNA and Protein(s)

  1. NM_000243.2NP_000234.1  pyrin isoform 1

    See identical proteins and their annotated locations for NP_000234.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF018080, AJ003147
    Consensus CDS
    CCDS10498.1
    UniProtKB/Swiss-Prot
    O15553
    Related
    ENSP00000219596.1, OTTHUMP00000159670, ENST00000219596.5, OTTHUMT00000251464
    Conserved Domains (4) summary
    smart00336
    Location:370412
    BBOX; B-Box-type zinc finger
    cd08321
    Location:688
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    pfam15186
    Location:402464
    TEX13; Testis-expressed sequence 13 protein family
    cd15813
    Location:590773
    SPRY_PRY_TRIM20; PRY/SPRY domain in tripartite motif-binding protein 20 (TRIM20), also known as pyrin
  2. NM_001198536.1NP_001185465.1  pyrin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant lacks an alternate in-frame exon and uses an alternate splice junction at the 5' end of an exon, that causes a frameshift. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AF018080, AJ003147, FJ785722, Y14441
    Consensus CDS
    CCDS55981.1
    UniProtKB/Swiss-Prot
    O15553
    UniProtKB/TrEMBL
    D2DTW2
    Related
    ENSP00000438711.1, OTTHUMP00000237919, ENST00000541159.5, OTTHUMT00000398145
    Conserved Domains (3) summary
    smart00336
    Location:159201
    BBOX; B-Box-type zinc finger
    cd08321
    Location:688
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    pfam15186
    Location:191253
    TEX13; Testis-expressed sequence 13 protein family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    3242028..3256776 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023236.2XP_016878725.1  pyrin isoform X1

RNA

  1. XR_001751903.1 RNA Sequence

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