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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 FDA approved drug targets Human disease related genes Metabolic proteins Plasma proteins
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
20
Cytoband
q13.12
Chromosome location (bp)
44584896 - 44652252
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine 1,2,3,4,5. Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4 6. Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion 7. Enhances dendritic cell immunogenicity by affecting dendritic cell costimulatory molecule expression and cytokines and chemokines secretion (By similarity). Enhances CD4+ T-cell differentiation and proliferation 8. Acts as a positive modulator of adenosine receptors ADORA1 and ADORA2A, by enhancing their ligand affinity via conformational change 9. Stimulates plasminogen activation 10. Plays a role in male fertility 11,12. Plays a protective role in early postimplantation embryonic development (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell adhesion, Nucleotide metabolism
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 enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]...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 Hydrolases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Primary immunodeficiency 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:0000255[allantoin metabolic process] GO:0001666[response to hypoxia] GO:0001701[in utero embryonic development] GO:0001829[trophectodermal cell differentiation] GO:0001889[liver development] GO:0001890[placenta development] GO:0002314[germinal center B cell differentiation] GO:0002467[germinal center formation] GO:0002636[positive regulation of germinal center formation] GO:0002686[negative regulation of leukocyte migration] GO:0002901[mature B cell apoptotic process] GO:0002906[negative regulation of mature B cell apoptotic process] GO:0004000[adenosine deaminase activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006154[adenosine catabolic process] GO:0006157[deoxyadenosine catabolic process] GO:0006196[AMP catabolic process] GO:0006805[xenobiotic metabolic process] GO:0006915[apoptotic process] GO:0006939[smooth muscle contraction] GO:0007155[cell adhesion] GO:0008270[zinc ion binding] GO:0009117[nucleotide metabolic process] GO:0009168[purine ribonucleoside monophosphate biosynthetic process] GO:0009897[external side of plasma membrane] GO:0009986[cell surface] GO:0010035[response to inorganic substance] GO:0010460[positive regulation of heart rate] GO:0014074[response to purine-containing compound] GO:0016020[membrane] GO:0016787[hydrolase activity] GO:0016814[hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines] GO:0019239[deaminase activity] GO:0019722[calcium-mediated signaling] GO:0030217[T cell differentiation] GO:0030324[lung development] GO:0030890[positive regulation of B cell proliferation] GO:0031410[cytoplasmic vesicle] GO:0032261[purine nucleotide salvage] GO:0032263[GMP salvage] GO:0033077[T cell differentiation in thymus] GO:0033089[positive regulation of T cell differentiation in thymus] GO:0033632[regulation of cell-cell adhesion mediated by integrin] GO:0042100[B cell proliferation] GO:0042110[T cell activation] GO:0043066[negative regulation of apoptotic process] GO:0043084[penile erection] GO:0043101[purine-containing compound salvage] GO:0043103[hypoxanthine salvage] GO:0043605[cellular amide catabolic process] GO:0044209[AMP salvage] GO:0045580[regulation of T cell differentiation] GO:0045582[positive regulation of T cell differentiation] GO:0045987[positive regulation of smooth muscle contraction] GO:0046059[dAMP catabolic process] GO:0046061[dATP catabolic process] GO:0046085[adenosine metabolic process] GO:0046101[hypoxanthine biosynthetic process] GO:0046103[inosine biosynthetic process] GO:0046111[xanthine biosynthetic process] GO:0046632[alpha-beta T cell differentiation] GO:0046638[positive regulation of alpha-beta T cell differentiation] GO:0046872[metal ion binding] GO:0046936[2'-deoxyadenosine deaminase activity] GO:0048286[lung alveolus development] GO:0048541[Peyer's patch development] GO:0048566[embryonic digestive tract development] GO:0050728[negative regulation of inflammatory response] GO:0050850[positive regulation of calcium-mediated signaling] GO:0050852[T cell receptor signaling pathway] GO:0050862[positive regulation of T cell receptor signaling pathway] GO:0050870[positive regulation of T cell activation] GO:0050900[leukocyte migration] GO:0060169[negative regulation of adenosine receptor signaling pathway] GO:0060205[cytoplasmic vesicle lumen] GO:0060407[negative regulation of penile erection] GO:0070161[anchoring junction] GO:0070242[thymocyte apoptotic process] GO:0070244[negative regulation of thymocyte apoptotic process] GO:0070254[mucus secretion] GO:0070256[negative regulation of mucus secretion]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
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GO:0005886[plasma membrane] GO:0009168[purine ribonucleoside monophosphate biosynthetic process] GO:0016814[hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines] GO:0019239[deaminase activity] GO:0060205[cytoplasmic vesicle lumen] GO:0070161[anchoring junction]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005886[plasma membrane] GO:0009168[purine ribonucleoside monophosphate biosynthetic process] GO:0016814[hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines] GO:0019239[deaminase activity] GO:0060205[cytoplasmic vesicle lumen] GO:0070161[anchoring junction]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins 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 Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Phobius predicted membrane proteins 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 Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Phobius predicted membrane proteins 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 Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
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