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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
1
Cytoband
q32.1
Chromosome location (bp)
200891048 - 200915742
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Expressed in peripheral macrophages and intestinal myeloid-derived cells, is required for optimal PRR (pattern recognition receptor)-induced signaling, cytokine secretion, and bacterial clearance. Upon stimulation of a broad range of PRRs (pattern recognition receptor) such as NOD2 or TLR2, TLR3, TLR4, TLR5, TLR7 and TLR9, associates with YWHAQ/14-3-3T, which in turn leads to the recruitment and activation of MAP kinases and NF-kappa-B signaling complexes that amplifies PRR-induced downstream signals and cytokine secretion 1. In the intestine, regulates adherens junction stability by regulating the degradation of CYTH1 and CYTH2, probably acting as substrate cofactor for SCF E3 ubiquitin-protein ligase complexes. Stabilizes adherens junctions by limiting CYTH1-dependent ARF6 activation 2....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Immunity, Innate immunity
Gene summary (Entrez)i
Useful information about the gene from Entrez
Involved in several processes, including nucleotide-binding activity oligomerization domain containing 2 signaling pathway; positive regulation of cytokine production; and positive regulation of intracellular signal transduction. Located in cytoplasm and nucleus. Implicated in inflammatory bowel disease 29. [provided by Alliance of Genome Resources, Apr 2022]...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.
Q3KP66 [Direct mapping] Innate immunity activator protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Other immune system diseases Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0002221[pattern recognition receptor signaling pathway] GO:0002376[immune system process] GO:0002720[positive regulation of cytokine production involved in immune response] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0016604[nuclear body] GO:0031398[positive regulation of protein ubiquitination] GO:0032494[response to peptidoglycan] GO:0032495[response to muramyl dipeptide] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032733[positive regulation of interleukin-10 production] GO:0032755[positive regulation of interleukin-6 production] GO:0032874[positive regulation of stress-activated MAPK cascade] GO:0034334[adherens junction maintenance] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043410[positive regulation of MAPK cascade] GO:0045087[innate immune response] GO:0060729[intestinal epithelial structure maintenance] GO:0070431[nucleotide-binding oligomerization domain containing 2 signaling pathway] GO:1903409[reactive oxygen species biosynthetic process]
Q3KP66 [Direct mapping] Innate immunity activator protein
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Other immune system diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0002221[pattern recognition receptor signaling pathway] GO:0002376[immune system process] GO:0002720[positive regulation of cytokine production involved in immune response] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0016604[nuclear body] GO:0031398[positive regulation of protein ubiquitination] GO:0032494[response to peptidoglycan] GO:0032495[response to muramyl dipeptide] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032733[positive regulation of interleukin-10 production] GO:0032755[positive regulation of interleukin-6 production] GO:0032874[positive regulation of stress-activated MAPK cascade] GO:0034334[adherens junction maintenance] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043410[positive regulation of MAPK cascade] GO:0045087[innate immune response] GO:0060729[intestinal epithelial structure maintenance] GO:0070431[nucleotide-binding oligomerization domain containing 2 signaling pathway] GO:1903409[reactive oxygen species biosynthetic process]
C9JAT8 [Direct mapping] Innate immunity activator protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Other immune system diseases
E9PK29 [Direct mapping] Innate immunity activator protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Other immune system diseases