Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
The new UniProt website is here! Take me to UniProt BETA

UniProtKB - O15553 (MEFV_HUMAN)

Entry version 210 (25 May 2022)
Sequence version 1 (01 Jan 1998)
Previous versions | rss
Add a publicationFeedback
Protein

Pyrin

Gene

MEFV

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923, PubMed:16037825, PubMed:27030597, PubMed:28835462, PubMed:16785446, PubMed:17431422, PubMed:26347139).

Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy (PubMed:16785446, PubMed:17431422, PubMed:26347139).

Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18-mediated inflammation (PubMed:16785446, PubMed:17431422, PubMed:26347139).

However, it can also have a positive effect in the inflammatory pathway, acting as an innate immune sensor that triggers PYCARD/ASC specks formation, caspase-1 activation, and IL1B and IL18 production (PubMed:16037825, PubMed:27030597, PubMed:28835462).

Together with AIM2, also acts as a mediator of pyroptosis, necroptosis and apoptosis (PANoptosis), an integral part of host defense against pathogens, in response to bacterial infection (By similarity).

It is required for PSTPIP1-induced PYCARD/ASC oligomerization and inflammasome formation (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923).

Recruits PSTPIP1 to inflammasomes, and is required for PSTPIP1 oligomerization (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923).

By similarity12 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri370 – 412B box-typePROSITE-ProRule annotationAdd BLAST43

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding
Biological processImmunity, Inflammatory response, Innate immunity
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O15553

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-844456, The NLRP3 inflammasome
R-HSA-9660826, Purinergic signaling in leishmaniasis infection

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O15553

SIGNOR Signaling Network Open Resource

More...SIGNORi		O15553

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Pyrin1 Publication
Alternative name(s):
Marenostrin1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MEFV1 PublicationImported
Synonyms:MEF, TRIM201 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6998, MEFV

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608107, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O15553

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000103313

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Microtubule, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Familial Mediterranean fever, autosomal recessive (ARFMF)18 Publications
The disease is caused by variants affecting the gene represented in this entry. The disease-associated mutations in the B30.2/SPRY domain perturb ULK1 recruitment and autophagic degradation of inflammasome components, including NLRP3, and hence may contribute to the inflammatory phenotype associated with ARFMF.1 Publication
Disease descriptionA hereditary periodic fever syndrome characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is frequently complicated by reactive amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine.
Related information in OMIM
Familial Mediterranean fever, autosomal dominant (ADFMF)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA hereditary periodic fever syndrome characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with reactive renal amyloidosis and characterized by colchicine unresponsiveness.
Related information in OMIM
Pyrin-associated autoinflammatory disease (PAAND)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant autoinflammatory disorder characterized by childhood onset of recurrent episodes of fever, neutrophilic dermatosis, myalgia and arthralgia. The neutrophilic dermatosis comprises a spectrum of clinical manifestations, including severe acne, sterile skin abscesses, pyoderma gangrenosum, and neutrophilic small-vessel vasculitis. Pathological examination of affected skin shows a dense, predominantly neutrophilic, vascular, perivascular, and interstitial infiltrate. PAAND has incomplete penetrance and variable expressivity.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_084466242S → R in PAAND; results in constitutive inflammasome activation; increased PYCARD/ASC specks formation; increased caspase-1 activation and IL1B production; loss of S-242 phosphorylation; loss of interaction with 14-3-3 proteins. 1 PublicationCorresponds to variant dbSNP:rs104895127EnsemblClinVar.1
Natural variantiVAR_084467244E → K in PAAND; results in constitutive inflammasome activation; increased PYCARD/ASC specks formation; increased caspase-1 activation and IL1B and IL18 production; decreased interaction with 14-3-3 proteins; no effect on interaction with PSTPIP1. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi16L → P: Does not form MEFV- and PSTPIP1-containing perinuclear specks. 1 Publication1
Mutagenesisi24F → S: Does not form MEFV- and PSTPIP1-containing perinuclear specks. 1 Publication1
Mutagenesisi208S → A: Loss of interaction with 14-3-3 proteins. 1 Publication1
Mutagenesisi244E → D: No effect on PYCARD/ASC specks formation. No effect on interaction with 14-3-3 proteins. 1 Publication1
Mutagenesisi244E → P: No effect on PYCARD/ASC specks formation. Increased interaction with 14-3-3 proteins. 1 Publication1
Mutagenesisi244E → R: Increased PYCARD/ASC specks formation. Decreased interaction with 14-3-3 proteins. 1 Publication1
Mutagenesisi330D → A: Loss of cleavage by CASP1. 1 Publication1
Mutagenesisi397 – 404Missing : No effect on GABARAP-binding. Loss of GABARAP-binding; when associated with 470-Y--G-488 and 523-S--D-530. 8
Mutagenesisi470 – 488Missing : No effect on GABARAP-binding. Loss of GABARAP-binding; when associated with 397-I--H-404 and 523-S--D-530. Add BLAST19
Mutagenesisi523 – 530Missing : No effect on GABARAP-binding. Loss of GABARAP-binding; when associated with 397-I--H-404 and 470-Y--G-488. 8

Keywords - Diseasei

Amyloidosis, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		4210

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		MEFV

MalaCards human disease database

More...MalaCardsi		MEFV
MIMi134610, phenotype
249100, phenotype
608068, phenotype

Open Targets

More...OpenTargetsi		ENSG00000103313

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		117, Behcet disease
342, Familial Mediterranean fever
329967, Intermittent hydrarthrosis
3243, Sweet syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30736

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O15553, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MEFV

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002203641 – 781PyrinAdd BLAST781

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei242Phosphoserine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Cleaved by CASP1 (Probable). The N-terminal cleavage product localizes to the nucleus as a filamentous network and to the cytoplasm, interacts more strongly with RELA and NFKBIA than the full-length protein, enhances the nuclear localization of RELA and induces NFKBIA proteolysis. The C-terminal cleavage product localizes to the cytoplasm (Probable).1 Publication
Phosphorylation at Ser-242 is required for the interaction with 14-3-3 proteins and down-regulation of pyrin pro-inflammatory activity.1 Publication
Degraded along with the delivery of its substrates to autolysosomal compartments (at protein level).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei330 – 331Cleavage; by CASP1Curated2

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O15553

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O15553

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O15553

PeptideAtlas

More...PeptideAtlasi		O15553

PRoteomics IDEntifications database

More...PRIDEi		O15553

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		25411
48755 [O15553-2]
48756 [O15553-1]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O15553, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O15553

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O15553

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in peripheral blood leukocytes, particularly in mature granulocytes and to a lesser extent in monocytes but not in lymphocytes. Detected in spleen, lung and muscle, probably as a result of leukocyte infiltration in these tissues. Not expressed in thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, liver, kidney, pancreas. Expression detected in several myeloid leukemic, colon cancer, and prostate cancer cell lines.3 Publications

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

First detected in bone marrow promyelocytes. Expression increases throughout myelocyte differentiation and peaks in the mature myelomonocytic cells.1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

In monocytes, up-regulated by treatment with colchicine and IFN-alpha, by the pro-inflammatory cytokines IFNG/IFN-gamma and TNF, by bacterial lipopolysaccharides (LPS) and by retroviral infection. Repressed in monocytes by the anti-inflammatory cytokines IL10/interleukin-10, TGFB1 and IL4/interleukin-4. In neutrophils and macrophages, up-regulated by IFNG/IFN-gamma with a peak after 8 hours of treatment.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000103313, Expressed in blood and 110 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O15553, baseline and differential

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000103313, Tissue enhanced (bone marrow, lymphoid tissue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotrimer.

Interacts (via the B box-type zinc finger) with PSTPIP1 (PubMed:14595024, PubMed:17964261, PubMed:19109554, PubMed:28835462).

Interacts (via the B30.2/SPRY domain) with several components of the inflammasome complex, including CASP1 p20 and p10 subunits, CASP5, PYCARD, NLRP1, NLRP2 AND NLRP3, as well as with unprocessed IL1B; this interaction may lead to autophagic degradation of these proteins (PubMed:11498534, PubMed:16785446, PubMed:17431422, PubMed:17964261, PubMed:26347139).

Component of the AIM2 PANoptosome complex, a multiprotein complex that drives inflammatory cell death (PANoptosis) (By similarity).

Interacts with NFKBIA and RELA (PubMed:18577712).

Interacts weakly with VASP and ACTR3 (PubMed:19109554).

Interacts with active ULK1 (phosphorylated on 'Ser-317') and BECN1 simultaneously.

Also interacts with ATG16L1 (via WD repeats), and with ATG8 family members, including GABARAP, GABARAPL1 and, to a lesser extent, GABARAPL2, MAP1LC3A/LC3A and MAP1LC3C/LC3C.

Interacts with TRIM21 (PubMed:26347139, PubMed:28835462).

Interacts with YWHAB, YWHAE, YWHAG, YWHAH, YWHAQ AND YWHAZ; the interaction is required for the down-regulation of pyrin pro-inflammatory activity (PubMed:27030597, PubMed:28835462).

By similarity10 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110374, 18 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-4143, Pyrin inflammasome

Database of interacting proteins

More...DIPi		DIP-41878N

Protein interaction database and analysis system

More...IntActi		O15553, 6 interactors

Molecular INTeraction database

More...MINTi		O15553

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000219596

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O15553, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1781
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		O15553

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O15553

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O15553

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1 – 92PyrinPROSITE-ProRule annotationAdd BLAST92
Domaini580 – 775B30.2/SPRYPROSITE-ProRule annotationAdd BLAST196

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni93 – 226DisorderedSequence analysisAdd BLAST134
Regioni266 – 280Interaction with RELA1 PublicationAdd BLAST15
Regioni270 – 322DisorderedSequence analysisAdd BLAST53
Regioni336 – 373DisorderedSequence analysisAdd BLAST38
Regioni420 – 582Required for homotrimerization and induction of pyroptosomes1 PublicationAdd BLAST163

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili413 – 442Sequence analysisAdd BLAST30

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi420 – 437Nuclear localization signalSequence analysisAdd BLAST18

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi93 – 115Polar residuesSequence analysisAdd BLAST23
Compositional biasi154 – 171Basic and acidic residuesSequence analysisAdd BLAST18
Compositional biasi338 – 352Polar residuesSequence analysisAdd BLAST15

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The B box-type zinc finger interacts, possibly intramolecularly, with the pyrin domain; this may be an autoinhibitory mechanism released by PSTPIP1 binding.1 Publication

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri370 – 412B box-typePROSITE-ProRule annotationAdd BLAST43

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2177, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161955

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_685051_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O15553

Identification of Orthologs from Complete Genome Data

More...OMAi		CQRHMKQ

Database of Orthologous Groups

More...OrthoDBi		651627at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O15553

TreeFam database of animal gene trees

More...TreeFami		TF351091

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.533.10, 1 hit
2.60.120.920, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001870, B30.2/SPRY
IPR043136, B30.2/SPRY_sf
IPR003879, Butyrophylin_SPRY
IPR013320, ConA-like_dom_sf
IPR004020, DAPIN
IPR011029, DEATH-like_dom_sf
IPR006574, PRY
IPR028841, Pyrin
IPR003877, SPRY_dom
IPR000315, Znf_B-box

The PANTHER Classification System

More...PANTHERi		PTHR24103:SF606, PTHR24103:SF606, 2 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13765, PRY, 1 hit
PF02758, PYRIN, 1 hit
PF00622, SPRY, 1 hit
PF00643, zf-B_box, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01407, BUTYPHLNCDUF

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00336, BBOX, 1 hit
SM00589, PRY, 1 hit
SM01289, PYRIN, 1 hit
SM00449, SPRY, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47986, SSF47986, 1 hit
SSF49899, SSF49899, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50188, B302_SPRY, 1 hit
PS50824, DAPIN, 1 hit
PS50119, ZF_BBOX, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O15553-2) [UniParc]FASTAAdd to basket
Also known as: FL

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAKTPSDHLL STLEELVPYD FEKFKFKLQN TSVQKEHSRI PRSQIQRARP 
        60         70         80         90        100
VKMATLLVTY YGEEYAVQLT LQVLRAINQR LLAEELHRAA IQEYSTQENG 
       110        120        130        140        150
TDDSAASSSL GENKPRSLKT PDHPEGNEGN GPRPYGGGAA SLRCSQPEAG 
       160        170        180        190        200
RGLSRKPLSK RREKASEGLD AQGKPRTRSP ALPGGRSPGP CRALEGGQAE 
       210        220        230        240        250
VRLRRNASSA GRLQGLAGGA PGQKECRPFE VYLPSGKMRP RSLEVTISTG 
       260        270        280        290        300
EKAPANPEIL LTLEEKTAAN LDSATEPRAR PTPDGGASAD LKEGPGNPEH 
       310        320        330        340        350
SVTGRPPDTA ASPRCHAQEG DPVDGTCVRD SCSFPEAVSG HPQASGSRSP 
       360        370        380        390        400
GCPRCQDSHE RKSPGSLSPQ PLPQCKRHLK QVQLLFCEDH DEPICLICSL 
       410        420        430        440        450
SQEHQGHRVR PIEEVALEHK KKIQKQLEHL KKLRKSGEEQ RSYGEEKAVS 
       460        470        480        490        500
FLKQTEALKQ RVQRKLEQVY YFLEQQEHFF VASLEDVGQM VGQIRKAYDT 
       510        520        530        540        550
RVSQDIALLD ALIGELEAKE CQSEWELLQD IGDILHRAKT VPVPEKWTTP 
       560        570        580        590        600
QEIKQKIQLL HQKSEFVEKS TKYFSETLRS EMEMFNVPEL IGAQAHAVNV 
       610        620        630        640        650
ILDAETAYPN LIFSDDLKSV RLGNKWERLP DGPQRFDSCI IVLGSPSFLS 
       660        670        680        690        700
GRRYWEVEVG DKTAWILGAC KTSISRKGNM TLSPENGYWV VIMMKENEYQ 
       710        720        730        740        750
ASSVPPTRLL IKEPPKRVGI FVDYRVGSIS FYNVTARSHI YTFASCSFSG 
       760        770        780 
PLQPIFSPGT RDGGKNTAPL TICPVGGQGP D
Length:781
Mass (Da):86,444
Last modified:January 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3692E5E6E9FC8204
GO
Isoform 2 (identifier: O15553-1) [UniParc]FASTAAdd to basket
Also known as: D2

The sequence of this isoform differs from the canonical sequence as follows:
     93-303: Missing.

Show »
Length:570
Mass (Da):64,494
Checksum:i34C7379A052C74EF
GO
Isoform 3 (identifier: O15553-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     93-303: Missing.
     587-781: VPELIGAQAH...ICPVGGQGPD → DHSPQHGLGS...GADWRSGTCC

Show »
Length:445
Mass (Da):50,837
Checksum:iE157099AC115F36C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W6Z2F8W6Z2_HUMAN
Pyrin
MEFV
601Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H2E5F5H2E5_HUMAN
Pyrin
MEFV
613Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H6N9F5H6N9_HUMAN
Pyrin
MEFV
490Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GZV9F5GZV9_HUMAN
Pyrin
MEFV
402Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H595F5H595_HUMAN
Pyrin
MEFV
644Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L0S7I3L0S7_HUMAN
Pyrin
MEFV
306Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E3P8H6E3P8H6_HUMAN
Pyrin
MEFV
101Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D2DTW1D2DTW1_HUMAN
Pyrin
MEFV
95Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04839833V → L. Corresponds to variant dbSNP:rs11466016EnsemblClinVar.1
Natural variantiVAR_02832642R → W in arFMF. Corresponds to variant dbSNP:rs61754767EnsemblClinVar.1
Natural variantiVAR_028327108S → R in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895103EnsemblClinVar.1
Natural variantiVAR_016824110L → P in arFMF. 2 PublicationsCorresponds to variant dbSNP:rs11466018EnsemblClinVar.1
Natural variantiVAR_009051148E → Q in arFMF and adFMF; likely benign variant; associated with S-369 and Q-408 in cis; associated with I-694 in some patients. 7 PublicationsCorresponds to variant dbSNP:rs3743930EnsemblClinVar.1
Natural variantiVAR_028328148E → V in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895076EnsemblClinVar.1
Natural variantiVAR_028329163E → A in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895106EnsemblClinVar.1
Natural variantiVAR_009052167E → D in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895079EnsemblClinVar.1
Natural variantiVAR_028330177T → I in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895143EnsemblClinVar.1
Natural variantiVAR_072382196G → W in arFMF; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895179EnsemblClinVar.1
Natural variantiVAR_009053202R → Q Benign variant; no effect on PYCARD/ASC inflammasome formation. 4 PublicationsCorresponds to variant dbSNP:rs224222EnsemblClinVar.1
Natural variantiVAR_016826230E → K in arFMF. 2 PublicationsCorresponds to variant dbSNP:rs104895080EnsemblClinVar.1
Natural variantiVAR_084466242S → R in PAAND; results in constitutive inflammasome activation; increased PYCARD/ASC specks formation; increased caspase-1 activation and IL1B production; loss of S-242 phosphorylation; loss of interaction with 14-3-3 proteins. 1 PublicationCorresponds to variant dbSNP:rs104895127EnsemblClinVar.1
Natural variantiVAR_084467244E → K in PAAND; results in constitutive inflammasome activation; increased PYCARD/ASC specks formation; increased caspase-1 activation and IL1B and IL18 production; decreased interaction with 14-3-3 proteins; no effect on interaction with PSTPIP1. 1 Publication1
Natural variantiVAR_072383247I → V in arFMF; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1472692347EnsemblClinVar.1
Natural variantiVAR_009054267T → I in arFMF. 2 PublicationsCorresponds to variant dbSNP:rs104895081EnsemblClinVar.1
Natural variantiVAR_072384283P → L in arFMF; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895119EnsemblClinVar.1
Natural variantiVAR_072385304G → R in arFMF; unknown pathological significance; no effect on PYCARD/ASC inflammasome formation. 2 PublicationsCorresponds to variant dbSNP:rs75977701EnsemblClinVar.1
Natural variantiVAR_028331319E → K in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895110EnsemblClinVar.1
Natural variantiVAR_009055369P → S in arFMF; unknown pathological significance; associated with Q-148 and Q-408 in cis. 2 PublicationsCorresponds to variant dbSNP:rs11466023EnsemblClinVar.1
Natural variantiVAR_009056408R → Q in arFMF; associated with Q-148 and S-369 in cis. 2 PublicationsCorresponds to variant dbSNP:rs11466024EnsemblClinVar.1
Natural variantiVAR_024376440Q → E. Corresponds to variant dbSNP:rs11466026EnsemblClinVar.1
Natural variantiVAR_028332474E → K in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895104EnsemblClinVar.1
Natural variantiVAR_028333478H → Y in adFMF; severe. 1 PublicationCorresponds to variant dbSNP:rs104895105EnsemblClinVar.1
Natural variantiVAR_009057479F → L in arFMF. 2 PublicationsCorresponds to variant dbSNP:rs104895083EnsemblClinVar.1
Natural variantiVAR_070795577T → A Probable disease-associated variant found in an autosomal dominant autoinflammatory disease with some similarities to familial Mediterranean fever. 1 Publication1
Natural variantiVAR_070796577T → N Probable disease-associated variant found in an autosomal dominant autoinflammatory disease with some similarities to familial Mediterranean fever. 1 PublicationCorresponds to variant dbSNP:rs1057516210EnsemblClinVar.1
Natural variantiVAR_070797577T → S Probable disease-associated variant found in an autosomal dominant autoinflammatory disease with some similarities to familial Mediterranean fever. 1 PublicationCorresponds to variant dbSNP:rs104895193EnsemblClinVar.1
Natural variantiVAR_028334585F → L. Corresponds to variant dbSNP:rs11466043Ensembl.1
Natural variantiVAR_016827591I → T in arFMF; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs11466045EnsemblClinVar.1
Natural variantiVAR_072386632G → A in arFMF; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs967990798EnsemblClinVar.1
Natural variantiVAR_028335632G → S in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895128EnsemblClinVar.1
Natural variantiVAR_028336640I → M in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895115EnsemblClinVar.1
Natural variantiVAR_028337641I → F in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895147EnsemblClinVar.1
Natural variantiVAR_028338646P → L in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895107EnsemblClinVar.1
Natural variantiVAR_028339649L → P in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895108EnsemblClinVar.1
Natural variantiVAR_016828653R → H in arFMF. 3 PublicationsCorresponds to variant dbSNP:rs104895085EnsemblClinVar.1
Natural variantiVAR_028340656E → A in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895086EnsemblClinVar.1
Natural variantiVAR_028341661D → N in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895120EnsemblClinVar.1
Natural variantiVAR_016829675S → N in arFMF. 2 PublicationsCorresponds to variant dbSNP:rs104895087EnsemblClinVar.1
Natural variantiVAR_028342678G → E in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895088EnsemblClinVar.1
Natural variantiVAR_028343680M → I in arFMF and adFMF; reduced CASP1 interaction; decreased interaction with ULK1 and diminished NLRP3 degradation after induction of autophagy by starvation; when associated with V-694 (PubMed:26347139); no effect on PYCARD/ASC inflammasome formation; no effect on interaction with 14-3-3 proteins. 12 PublicationsCorresponds to variant dbSNP:rs28940580EnsemblClinVar.1
Natural variantiVAR_016830680M → L in arFMF. 2 PublicationsCorresponds to variant dbSNP:rs104895089EnsemblClinVar.1
Natural variantiVAR_009059681T → I in arFMF. 2 PublicationsCorresponds to variant dbSNP:rs104895090EnsemblClinVar.1
Natural variantiVAR_028344688Y → C in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895122EnsemblClinVar.1
Natural variantiVAR_009060692Missing in arFMF. Corresponds to variant dbSNP:rs104895093Ensembl.1
Natural variantiVAR_009061694M → I in arFMF and adFMF; associated with Q-148 in some patients; no effect on PYCARD/ASC inflammasome formation; no effect on interaction with 14-3-3 proteins. 9 PublicationsCorresponds to variant dbSNP:rs28940578EnsemblClinVar.1
Natural variantiVAR_070798694M → K in arFMF. 1 PublicationCorresponds to variant dbSNP:rs1596350022EnsemblClinVar.1
Natural variantiVAR_028345694M → L in arFMF. 1 PublicationCorresponds to variant dbSNP:rs61752717EnsemblClinVar.1
Natural variantiVAR_009062694M → V in arFMF and adFMF; very common mutation particularly in North African Jews; can be associated with amyloidosis development; reduced interaction with CASP1 and with ULK1 and diminished NLRP3 degradation after induction of autophagy by starvation (PubMed:16785446) (PubMed:26347139); effect on autophagic NLRP3 degradation is increased; when associated with I-680; no effect on interaction with CASP1, CASP5, NLRP1, NLRP2 or NLRP3 (PubMed:17431422). 13 PublicationsCorresponds to variant dbSNP:rs61752717EnsemblClinVar.1
Natural variantiVAR_009063694Missing in arFMF and adFMF. 2 Publications1
Natural variantiVAR_028346695K → M in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895094EnsemblClinVar.1
Natural variantiVAR_009064695K → R in arFMF; reduced penetrance among Ashkenazi Jews. 4 PublicationsCorresponds to variant dbSNP:rs104895094EnsemblClinVar.1
Natural variantiVAR_028347702S → C in one patient with familial Mediterranean fever. 1 PublicationCorresponds to variant dbSNP:rs104895166EnsemblClinVar.1
Natural variantiVAR_028348704V → I in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895096EnsemblClinVar.1
Natural variantiVAR_028349705P → S in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895145EnsemblClinVar.1
Natural variantiVAR_028350720I → M in arFMF. 2 PublicationsCorresponds to variant dbSNP:rs104895102EnsemblClinVar.1
Natural variantiVAR_009065726V → A in arFMF; common mutation; in Iraqi and Ashkenazi Jews, Druze, Armenians; reduced interaction with CASP1 and ULK1 and diminished NLRP3 degradation after induction of autophagy by starvation; when associated with I-680 and V-694; no effect on CASP1 activation; no effect on interaction with 14-3-3 proteins. 10 PublicationsCorresponds to variant dbSNP:rs28940579EnsemblClinVar.1
Natural variantiVAR_028351743F → L in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895152EnsemblClinVar.1
Natural variantiVAR_009066744A → S in arFMF; uncertain pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs61732874EnsemblClinVar.1
Natural variantiVAR_028352758P → S in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895114EnsemblClinVar.1
Natural variantiVAR_009067761R → H in arFMF. 5 PublicationsCorresponds to variant dbSNP:rs104895097EnsemblClinVar.1
Natural variantiVAR_028353780P → T in arFMF. 1 PublicationCorresponds to variant dbSNP:rs104895154EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00822393 – 303Missing in isoform 2 and isoform 3. CuratedAdd BLAST211
Alternative sequenceiVSP_047663587 – 781VPELI…GQGPD → DHSPQHGLGSWEERDYTQHS MQGPKQGVPCLSLLSGQCNL APLNANAQDFFPYLIFLRSS GADWRSGTCC in isoform 3. CuratedAdd BLAST195

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF018080 mRNA Translation: AAB70557.1
CH471112 Genomic DNA Translation: EAW85382.1
CH471112 Genomic DNA Translation: EAW85383.1
BC101511 mRNA Translation: AAI01512.1
BC101537 mRNA Translation: AAI01538.1
Y14441 mRNA Translation: CAA74793.1
AJ003147 Genomic DNA Translation: CAA05906.1
AF111163 Genomic DNA Translation: AAD26152.1
AF301150 Genomic DNA Translation: AAK97223.1
AF301151 Genomic DNA Translation: AAK97224.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10498.1 [O15553-2]
CCDS55981.1 [O15553-3]

NCBI Reference Sequences

More...RefSeqi		NP_000234.1, NM_000243.2 [O15553-2]
NP_001185465.1, NM_001198536.1 [O15553-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000219596.6; ENSP00000219596.1; ENSG00000103313.13
ENST00000536379.5; ENSP00000445079.1; ENSG00000103313.13 [O15553-1]
ENST00000541159.5; ENSP00000438711.1; ENSG00000103313.13 [O15553-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4210

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4210

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000219596.6; ENSP00000219596.1; NM_000243.3; NP_000234.1

UCSC genome browser

More...UCSCi		uc002cun.1, human [O15553-2]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

INFEVERS

Repertory of FMF and hereditary autoinflammatory disorders mutations

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF018080 mRNA Translation: AAB70557.1
CH471112 Genomic DNA Translation: EAW85382.1
CH471112 Genomic DNA Translation: EAW85383.1
BC101511 mRNA Translation: AAI01512.1
BC101537 mRNA Translation: AAI01538.1
Y14441 mRNA Translation: CAA74793.1
AJ003147 Genomic DNA Translation: CAA05906.1
AF111163 Genomic DNA Translation: AAD26152.1
AF301150 Genomic DNA Translation: AAK97223.1
AF301151 Genomic DNA Translation: AAK97224.1
CCDSiCCDS10498.1 [O15553-2]
CCDS55981.1 [O15553-3]
RefSeqiNP_000234.1, NM_000243.2 [O15553-2]
NP_001185465.1, NM_001198536.1 [O15553-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MPCNMR-A1-92[»]
2WL1X-ray1.35A586-776[»]
4CG4X-ray2.40A/B/C/D/E/F414-781[»]
AlphaFoldDBiO15553
SMRiO15553
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi110374, 18 interactors
ComplexPortaliCPX-4143, Pyrin inflammasome
DIPiDIP-41878N
IntActiO15553, 6 interactors
MINTiO15553
STRINGi9606.ENSP00000219596

PTM databases

GlyGeniO15553, 1 site, 1 O-linked glycan (1 site)
iPTMnetiO15553
PhosphoSitePlusiO15553

Genetic variation databases

BioMutaiMEFV

Proteomic databases

EPDiO15553
MassIVEiO15553
PaxDbiO15553
PeptideAtlasiO15553
PRIDEiO15553
ProteomicsDBi25411
48755 [O15553-2]
48756 [O15553-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		10781, 223 antibodies from 32 providers

The DNASU plasmid repository

More...DNASUi		4210

Genome annotation databases

EnsembliENST00000219596.6; ENSP00000219596.1; ENSG00000103313.13
ENST00000536379.5; ENSP00000445079.1; ENSG00000103313.13 [O15553-1]
ENST00000541159.5; ENSP00000438711.1; ENSG00000103313.13 [O15553-3]
GeneIDi4210
KEGGihsa:4210
MANE-SelectiENST00000219596.6; ENSP00000219596.1; NM_000243.3; NP_000234.1
UCSCiuc002cun.1, human [O15553-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4210
DisGeNETi4210

GeneCards: human genes, protein and diseases

More...GeneCardsi		MEFV
GeneReviewsiMEFV
HGNCiHGNC:6998, MEFV
HPAiENSG00000103313, Tissue enhanced (bone marrow, lymphoid tissue)
MalaCardsiMEFV
MIMi134610, phenotype
249100, phenotype
608068, phenotype
608107, gene
neXtProtiNX_O15553
OpenTargetsiENSG00000103313
Orphaneti117, Behcet disease
342, Familial Mediterranean fever
329967, Intermittent hydrarthrosis
3243, Sweet syndrome
PharmGKBiPA30736
VEuPathDBiHostDB:ENSG00000103313

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2177, Eukaryota
GeneTreeiENSGT00940000161955
HOGENOMiCLU_685051_0_0_1
InParanoidiO15553
OMAiCQRHMKQ
OrthoDBi651627at2759
PhylomeDBiO15553
TreeFamiTF351091

Enzyme and pathway databases

PathwayCommonsiO15553
ReactomeiR-HSA-844456, The NLRP3 inflammasome
R-HSA-9660826, Purinergic signaling in leishmaniasis infection
SignaLinkiO15553
SIGNORiO15553

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4210, 14 hits in 1069 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MEFV, human
EvolutionaryTraceiO15553

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MEFV

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		4210
PharosiO15553, Tbio

Protein Ontology

More...PROi		PR:O15553
RNActiO15553, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000103313, Expressed in blood and 110 other tissues
ExpressionAtlasiO15553, baseline and differential

Family and domain databases

Gene3Di1.10.533.10, 1 hit
2.60.120.920, 1 hit
InterProiView protein in InterPro
IPR001870, B30.2/SPRY
IPR043136, B30.2/SPRY_sf
IPR003879, Butyrophylin_SPRY
IPR013320, ConA-like_dom_sf
IPR004020, DAPIN
IPR011029, DEATH-like_dom_sf
IPR006574, PRY
IPR028841, Pyrin
IPR003877, SPRY_dom
IPR000315, Znf_B-box
PANTHERiPTHR24103:SF606, PTHR24103:SF606, 2 hits
PfamiView protein in Pfam
PF13765, PRY, 1 hit
PF02758, PYRIN, 1 hit
PF00622, SPRY, 1 hit
PF00643, zf-B_box, 1 hit
PRINTSiPR01407, BUTYPHLNCDUF
SMARTiView protein in SMART
SM00336, BBOX, 1 hit
SM00589, PRY, 1 hit
SM01289, PYRIN, 1 hit
SM00449, SPRY, 1 hit
SUPFAMiSSF47986, SSF47986, 1 hit
SSF49899, SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS50188, B302_SPRY, 1 hit
PS50824, DAPIN, 1 hit
PS50119, ZF_BBOX, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMEFV_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O15553
Secondary accession number(s): D3DUC0
, F5H0Q3, Q3MJ84, Q96PN4, Q96PN5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: January 1, 1998
Last modified: May 25, 2022
This is version 210 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again