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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 Enzymes Human disease related genes Potential drug targets
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
13
Cytoband
q14.11
Chromosome location (bp)
43879284 - 43893932
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Purine nucleoside enzyme that catalyzes the phosphorolysis of adenosine, guanosine and inosine nucleosides, yielding D-ribose 1-phosphate and the respective free bases, adenine, guanine and hypoxanthine 1. Also catalyzes the phosphorolysis of S-methyl-5'-thioadenosine into adenine and S-methyl-5-thio-alpha-D-ribose 1-phosphate 2. Also has adenosine deaminase activity 3. Acts as a regulator of innate immunity in macrophages by modulating the purine nucleotide metabolism, thereby regulating the metabolic function and bioenergetic state of macrophages 4. Enables a purine nucleotide cycle between adenosine and inosine monophosphate and adenylosuccinate that prevents cytoplasmic acidification and balances the cytoplasmic-mitochondrial redox interface 5. The purine nucleotide cycle consumes aspartate and releases fumarate in a manner involving fatty acid oxidation and ATP-citrate lyase activity 6. Participates in pattern recognition receptor (PRR)-induced cytokines in macrophages: associates with the NOD2-signaling complex and promotes optimal NOD2-induced signaling, cytokine secretion and bacterial clearance 7,8. Localizes to the endoplasmic reticulum upon PRR stimulation of macrophages and associates with endoplasmic reticulum-stress sensors, promoting the endoplasmic reticulum unfolded protein response (UPR) 9. Does not show laccase activity 10,11....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase, Transferase
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 an oxidoreductase that promotes fatty-acid oxidation, with concomitant inflammasome activation, mitochondrial and NADPH-oxidase-dependent reactive oxygen species production, and bactericidal activity of macrophages. The encoded protein forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated receptor signaling events. Naturally occurring mutations in this gene are associated with inflammatory bowel disease, Behcet's disease, leprosy, ulcerative colitis, early-onset Crohn's disease, and systemic juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]...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.
Enzymes ENZYME proteins Transferases Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Immune system diseases Allergies and autoimmune 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:0002221[pattern recognition receptor signaling pathway] GO:0002376[immune system process] GO:0002720[positive regulation of cytokine production involved in immune response] GO:0004000[adenosine deaminase activity] GO:0004731[purine-nucleoside phosphorylase activity] GO:0005507[copper ion binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005777[peroxisome] GO:0005783[endoplasmic reticulum] GO:0006954[inflammatory response] GO:0016740[transferase activity] GO:0016787[hydrolase activity] GO:0017061[S-methyl-5-thioadenosine phosphorylase activity] GO:0030641[regulation of cellular pH] GO:0045087[innate immune response] GO:0046872[metal ion binding] GO:0046936[2'-deoxyadenosine deaminase activity] GO:0047975[guanosine phosphorylase activity] GO:0050727[regulation of inflammatory response] GO:0070431[nucleotide-binding oligomerization domain containing 2 signaling pathway] GO:1900542[regulation of purine nucleotide metabolic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Immune system diseases Allergies and autoimmune 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:0002221[pattern recognition receptor signaling pathway] GO:0002376[immune system process] GO:0002720[positive regulation of cytokine production involved in immune response] GO:0004000[adenosine deaminase activity] GO:0004731[purine-nucleoside phosphorylase activity] GO:0005507[copper ion binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005777[peroxisome] GO:0005783[endoplasmic reticulum] GO:0006954[inflammatory response] GO:0016740[transferase activity] GO:0016787[hydrolase activity] GO:0017061[S-methyl-5-thioadenosine phosphorylase activity] GO:0030641[regulation of cellular pH] GO:0045087[innate immune response] GO:0046872[metal ion binding] GO:0046936[2'-deoxyadenosine deaminase activity] GO:0047975[guanosine phosphorylase activity] GO:0050727[regulation of inflammatory response] GO:0070431[nucleotide-binding oligomerization domain containing 2 signaling pathway] GO:1900542[regulation of purine nucleotide metabolic process]
The Human Protein Atlas project is funded
