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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)
53793741 - 53824403
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Plays an essential role as an potent mitigator of inflammation 1. Primarily expressed in dendritic cells and macrophages, inhibits both canonical and non-canonical NF-kappa-B and ERK activation pathways 2,3. Functions as a negative regulator of NOD2 by targeting it to degradation via the proteasome pathway 4. In turn, promotes bacterial tolerance 5. Inhibits also the RIGI-mediated immune signaling against RNA viruses by reducing the E3 ubiquitin ligase TRIM25-mediated 'Lys-63'-linked RIGI activation but enhancing the E3 ubiquitin ligase RNF125-mediated 'Lys-48'-linked RIGI degradation 6. Acts also as a negative regulator of inflammatory response to mitigate obesity and obesity-associated diseases in adipose tissue (By similarity)....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 CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
P59046 [Direct mapping] NACHT, LRR and PYD domains-containing protein 12
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SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000166[nucleotide binding] GO:0001818[negative regulation of cytokine production] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007165[signal transduction] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0009968[negative regulation of signal transduction] GO:0031953[negative regulation of protein autophosphorylation] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032661[regulation of interleukin-18 production] GO:0032692[negative regulation of interleukin-1 production] GO:0032715[negative regulation of interleukin-6 production] GO:0032731[positive regulation of interleukin-1 beta production] GO:0036336[dendritic cell migration] GO:0038061[NIK/NF-kappaB signaling] GO:0043122[regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043124[negative regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043281[regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0045345[positive regulation of MHC class I biosynthetic process] GO:0045751[negative regulation of Toll signaling pathway] GO:0050727[regulation of inflammatory response] GO:0050728[negative regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0070371[ERK1 and ERK2 cascade] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0071345[cellular response to cytokine stimulus] GO:1901223[negative regulation of NIK/NF-kappaB signaling] GO:1901224[positive regulation of NIK/NF-kappaB signaling]
A0A0C4DH17 [Direct mapping] NACHT, LRR and PYD domains-containing protein 12
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SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases
A0A0C4DFY3 [Direct mapping] NACHT, LRR and PYD domains-containing protein 12
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SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases
P59046 [Direct mapping] NACHT, LRR and PYD domains-containing protein 12
Show all
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000166[nucleotide binding] GO:0001818[negative regulation of cytokine production] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007165[signal transduction] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0009968[negative regulation of signal transduction] GO:0031953[negative regulation of protein autophosphorylation] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032661[regulation of interleukin-18 production] GO:0032692[negative regulation of interleukin-1 production] GO:0032715[negative regulation of interleukin-6 production] GO:0032731[positive regulation of interleukin-1 beta production] GO:0043122[regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043124[negative regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043281[regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0045345[positive regulation of MHC class I biosynthetic process] GO:0045751[negative regulation of Toll signaling pathway] GO:0050727[regulation of inflammatory response] GO:0050728[negative regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0071345[cellular response to cytokine stimulus] GO:1901223[negative regulation of NIK/NF-kappaB signaling] GO:1901224[positive regulation of NIK/NF-kappaB signaling]
P59046 [Direct mapping] NACHT, LRR and PYD domains-containing protein 12
Show all
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000166[nucleotide binding] GO:0001818[negative regulation of cytokine production] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007165[signal transduction] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0009968[negative regulation of signal transduction] GO:0031953[negative regulation of protein autophosphorylation] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032661[regulation of interleukin-18 production] GO:0032692[negative regulation of interleukin-1 production] GO:0032715[negative regulation of interleukin-6 production] GO:0032731[positive regulation of interleukin-1 beta production] GO:0043122[regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043124[negative regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043281[regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0045345[positive regulation of MHC class I biosynthetic process] GO:0045751[negative regulation of Toll signaling pathway] GO:0050727[regulation of inflammatory response] GO:0050728[negative regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0071345[cellular response to cytokine stimulus] GO:1901223[negative regulation of NIK/NF-kappaB signaling] GO:1901224[positive regulation of NIK/NF-kappaB signaling]
The Human Protein Atlas project is funded
