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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
16
Cytoband
p13.3
Chromosome location (bp)
3242027 - 3256633
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma 1,2,3,4,5,6,7,8,9,10,11,12. 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 13,14,15. 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 16,17,18. 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 19,20,21. 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 22,23,24,25,26,27. Recruits PSTPIP1 to inflammasomes, and is required for PSTPIP1 oligomerization 28,29,30,31,32,33....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Actin-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Immunity, Inflammatory response, Innate immunity
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Other immune system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001726[ruffle] GO:0002221[pattern recognition receptor signaling pathway] GO:0002376[immune system process] GO:0003779[actin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005776[autophagosome] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005874[microtubule] GO:0005875[microtubule associated complex] GO:0006954[inflammatory response] GO:0008270[zinc ion binding] GO:0010468[regulation of gene expression] GO:0010508[positive regulation of autophagy] GO:0016567[protein ubiquitination] GO:0030027[lamellipodium] GO:0031410[cytoplasmic vesicle] GO:0032651[regulation of interleukin-1 beta production] GO:0032691[negative regulation of interleukin-1 beta production] GO:0032695[negative regulation of interleukin-12 production] GO:0032731[positive regulation of interleukin-1 beta production] GO:0034341[response to type II interferon] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0045087[innate immune response] GO:0046872[metal ion binding] GO:0050728[negative regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0061630[ubiquitin protein ligase activity] GO:0061702[inflammasome complex] GO:0070269[pyroptosis] GO:0071641[negative regulation of macrophage inflammatory protein 1 alpha production] GO:1900016[negative regulation of cytokine production involved in inflammatory response] GO:1900226[negative regulation of NLRP3 inflammasome complex assembly] GO:1904270[] GO:2001056[positive regulation of cysteine-type endopeptidase activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Other immune system diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Other immune system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0001726[ruffle] GO:0002221[pattern recognition receptor signaling pathway] GO:0002376[immune system process] GO:0003779[actin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005776[autophagosome] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005874[microtubule] GO:0005875[microtubule associated complex] GO:0006954[inflammatory response] GO:0008270[zinc ion binding] GO:0010468[regulation of gene expression] GO:0010508[positive regulation of autophagy] GO:0016567[protein ubiquitination] GO:0030027[lamellipodium] GO:0031410[cytoplasmic vesicle] GO:0032651[regulation of interleukin-1 beta production] GO:0032691[negative regulation of interleukin-1 beta production] GO:0032695[negative regulation of interleukin-12 production] GO:0032731[positive regulation of interleukin-1 beta production] GO:0034341[response to type II interferon] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0045087[innate immune response] GO:0046872[metal ion binding] GO:0050728[negative regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0061630[ubiquitin protein ligase activity] GO:0061702[inflammasome complex] GO:0070269[pyroptosis] GO:0071641[negative regulation of macrophage inflammatory protein 1 alpha production] GO:1900016[negative regulation of cytokine production involved in inflammatory response] GO:1900226[negative regulation of NLRP3 inflammasome complex assembly] GO:1904270[] GO:2001056[positive regulation of cysteine-type endopeptidase activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Other immune system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726[ruffle] GO:0002221[pattern recognition receptor signaling pathway] GO:0002376[immune system process] GO:0003779[actin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005776[autophagosome] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005874[microtubule] GO:0005875[microtubule associated complex] GO:0006954[inflammatory response] GO:0008270[zinc ion binding] GO:0010468[regulation of gene expression] GO:0010508[positive regulation of autophagy] GO:0016567[protein ubiquitination] GO:0030027[lamellipodium] GO:0031410[cytoplasmic vesicle] GO:0032651[regulation of interleukin-1 beta production] GO:0032691[negative regulation of interleukin-1 beta production] GO:0032695[negative regulation of interleukin-12 production] GO:0032731[positive regulation of interleukin-1 beta production] GO:0034341[response to type II interferon] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0045087[innate immune response] GO:0046872[metal ion binding] GO:0050728[negative regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0061630[ubiquitin protein ligase activity] GO:0061702[inflammasome complex] GO:0070269[pyroptosis] GO:0071641[negative regulation of macrophage inflammatory protein 1 alpha production] GO:1900016[negative regulation of cytokine production involved in inflammatory response] GO:1900226[negative regulation of NLRP3 inflammasome complex assembly] GO:1904270[] GO:2001056[positive regulation of cysteine-type endopeptidase activity]
The Human Protein Atlas project is funded
