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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
19
Cytoband
q13.42
Chromosome location (bp)
54923509 - 54966312
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Inhibits CASP1/caspase-1-dependent IL1B secretion....show less
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [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.
Q8WX94 [Direct mapping] NACHT, LRR and PYD domains-containing protein 7
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Reproductive system diseases Reproductive 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:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005575[cellular_component] GO:0005737[cytoplasm] GO:0010955[negative regulation of protein processing] GO:0019828[aspartic-type endopeptidase inhibitor activity] GO:0019966[interleukin-1 binding] GO:0032691[negative regulation of interleukin-1 beta production] GO:0050727[regulation of inflammatory response] GO:0071222[cellular response to lipopolysaccharide] GO:0071347[cellular response to interleukin-1] GO:0089720[caspase binding] GO:1900016[negative regulation of cytokine production involved in inflammatory response] GO:1905246[negative regulation of aspartic-type peptidase activity]
Q8WX94 [Direct mapping] NACHT, LRR and PYD domains-containing protein 7
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Reproductive system diseases Reproductive 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:0000166[nucleotide binding] GO:0005524[ATP binding] GO:0005575[cellular_component] GO:0005737[cytoplasm] GO:0010955[negative regulation of protein processing] GO:0019828[aspartic-type endopeptidase inhibitor activity] GO:0019966[interleukin-1 binding] GO:0032691[negative regulation of interleukin-1 beta production] GO:0050727[regulation of inflammatory response] GO:0071222[cellular response to lipopolysaccharide] GO:0071347[cellular response to interleukin-1] GO:0089720[caspase binding] GO:1900016[negative regulation of cytokine production involved in inflammatory response] GO:1905246[negative regulation of aspartic-type peptidase activity]
K7EP54 [Direct mapping] NACHT, LRR and PYD domains-containing protein 7
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Reproductive system diseases Reproductive system diseases Protein evidence (Ezkurdia et al 2014)
K7ER92 [Direct mapping] NACHT, LRR and PYD domains-containing protein 7
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Reproductive system diseases Reproductive system diseases Protein evidence (Ezkurdia et al 2014)
Q8WX94 [Direct mapping] NACHT, LRR and PYD domains-containing protein 7
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Reproductive system diseases Reproductive system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005575[cellular_component] GO:0005737[cytoplasm] GO:0010955[negative regulation of protein processing] GO:0019828[aspartic-type endopeptidase inhibitor activity] GO:0019966[interleukin-1 binding] GO:0032691[negative regulation of interleukin-1 beta production] GO:0042802[identical protein binding] GO:0050727[regulation of inflammatory response] GO:0071222[cellular response to lipopolysaccharide] GO:0071347[cellular response to interleukin-1] GO:0089720[caspase binding] GO:1900016[negative regulation of cytokine production involved in inflammatory response] GO:1905246[negative regulation of aspartic-type peptidase activity]
Q8WX94 [Direct mapping] NACHT, LRR and PYD domains-containing protein 7
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Reproductive system diseases Reproductive system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0005524[ATP binding] GO:0005575[cellular_component] GO:0005737[cytoplasm] GO:0010955[negative regulation of protein processing] GO:0019828[aspartic-type endopeptidase inhibitor activity] GO:0019966[interleukin-1 binding] GO:0032691[negative regulation of interleukin-1 beta production] GO:0050727[regulation of inflammatory response] GO:0071222[cellular response to lipopolysaccharide] GO:0071347[cellular response to interleukin-1] GO:0089720[caspase binding] GO:1900016[negative regulation of cytokine production involved in inflammatory response] GO:1905246[negative regulation of aspartic-type peptidase activity]
K7EPY3 [Direct mapping] NACHT, LRR and PYD domains-containing protein 7
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Reproductive system diseases Reproductive system diseases Protein evidence (Ezkurdia et al 2014)
Q8WX94 [Direct mapping] NACHT, LRR and PYD domains-containing protein 7
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Reproductive system diseases Reproductive system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005575[cellular_component] GO:0005737[cytoplasm] GO:0010955[negative regulation of protein processing] GO:0019828[aspartic-type endopeptidase inhibitor activity] GO:0019966[interleukin-1 binding] GO:0032691[negative regulation of interleukin-1 beta production] GO:0042802[identical protein binding] GO:0050727[regulation of inflammatory response] GO:0071222[cellular response to lipopolysaccharide] GO:0071347[cellular response to interleukin-1] GO:0089720[caspase binding] GO:1900016[negative regulation of cytokine production involved in inflammatory response] GO:1905246[negative regulation of aspartic-type peptidase activity]
The Human Protein Atlas project is funded
