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

    Gene ID: 4210, updated on 8-Oct-2017
    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]
    Orthologs
    Location:
    16p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC126560, MGC126586

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 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 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
     
    Preferred Names
    pyrin
    Names
    Mediterranean fever
    marenostrin

    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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017023236.1XP_016878725.1  pyrin isoform X1

    RNA

    1. XR_001751903.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      3291965..3306560 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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