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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).
Cancer-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
1
Cytoband
q44
Chromosome location (bp)
247416156 - 247449108
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020]...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.
A0A7I2R3P8 [Direct mapping] NACHT, LRR and PYD domains-containing protein 3
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Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Other immune system diseases Nervous system diseases Ear disease
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GO:0002526[acute inflammatory response] GO:0002720[positive regulation of cytokine production involved in immune response] GO:0002830[positive regulation of type 2 immune response] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005815[microtubule organizing center] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0006954[inflammatory response] GO:0009595[detection of biotic stimulus] GO:0016020[membrane] GO:0016887[ATP hydrolysis activity] GO:0031021[interphase microtubule organizing center] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032736[positive regulation of interleukin-13 production] GO:0032753[positive regulation of interleukin-4 production] GO:0032754[positive regulation of interleukin-5 production] GO:0035591[signaling adaptor activity] GO:0043565[sequence-specific DNA binding] GO:0044546[NLRP3 inflammasome complex assembly] GO:0045630[positive regulation of T-helper 2 cell differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0050727[regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0050830[defense response to Gram-positive bacterium] GO:0051260[protein homooligomerization] GO:0051607[defense response to virus] GO:0061702[inflammasome complex] GO:0070273[phosphatidylinositol-4-phosphate binding] GO:0071222[cellular response to lipopolysaccharide] GO:0071224[cellular response to peptidoglycan] GO:0072559[NLRP3 inflammasome complex] GO:0140297[DNA-binding transcription factor binding] GO:0140299[small molecule sensor activity] GO:1901981[phosphatidylinositol phosphate binding] GO:2000321[positive regulation of T-helper 17 cell differentiation] GO:2000553[positive regulation of T-helper 2 cell cytokine production]
A0A7I2PJH0 [Direct mapping] NACHT, LRR and PYD domains-containing protein 3
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Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Other immune system diseases Nervous system diseases Ear disease
A0A7I2PMC6 [Direct mapping] NACHT, LRR and PYD domains-containing protein 3
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Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Other immune system diseases Nervous system diseases Ear disease
A0A7I2PRX0 [Direct mapping] Cold autoinflammatory syndrome 1, isoform CRA_d; NACHT, LRR and PYD domains-containing protein 3
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Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Other immune system diseases Nervous system diseases Ear disease
A0A7I2R3P8 [Direct mapping] NACHT, LRR and PYD domains-containing protein 3
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Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Other immune system diseases Nervous system diseases Ear disease
A0A7I2UNQ2 [Direct mapping] NACHT, LRR and PYD domains-containing protein 3
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Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Other immune system diseases Nervous system diseases Ear disease
A0A7I2YME5 [Direct mapping] NACHT, LRR and PYD domains-containing protein 3
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Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Other immune system diseases Nervous system diseases Ear disease
Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Other immune system diseases Nervous system diseases Ear disease