Human Gene ADA (ENST00000372874.9) from GENCODE V44
Description: Homo sapiens adenosine deaminase (ADA), transcript variant 1, mRNA. (from RefSeq NM_000022) RefSeq Summary (NM_000022): 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]. Gencode Transcript: ENST00000372874.9 Gencode Gene: ENSG00000196839.14 Transcript (Including UTRs) Position: hg38 chr20:44,619,522-44,651,699 Size: 32,178 Total Exon Count: 12 Strand: - Coding Region Position: hg38 chr20:44,619,834-44,651,607 Size: 31,774 Coding Exon Count: 12
ID:ADA_HUMAN DESCRIPTION: RecName: Full=Adenosine deaminase; EC=3.5.4.4; AltName: Full=Adenosine aminohydrolase; FUNCTION: Catalyzes the hydrolytic deamination of adenosine and 2- deoxyadenosine. 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. Its interaction with DPP4 regulates lymphocyte- epithelial cell adhesion. CATALYTIC ACTIVITY: Adenosine + H(2)O = inosine + NH(3). COFACTOR: Binds 1 zinc ion per subunit. SUBUNIT: Interacts with DPP4 (extracellular domain). SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Extracellular side. Cell junction. Cytoplasmic vesicle lumen (By similarity). Cytoplasm (By similarity). Note=Colocalized with DPP4 at the cell junction in lymphocyte-epithelial cell adhesion. TISSUE SPECIFICITY: Found in all tissues, occurs in large amounts in T-lymphocytes and, at the time of weaning, in gastrointestinal tissues. POLYMORPHISM: There is a common allele, ADA*2, also known as the ADA 2 allozyme. It is associated with the reduced metabolism of adenosine to inosine. It specifically enhances deep sleep and slow-wave activity (SWA) during sleep. DISEASE: Defects in ADA are the cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell- negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ADA-SCID is an autosomal recessive form accounting for about 50% of non-X-linked SCIDs. ADA deficiency has been diagnosed in chronically ill teenagers and adults (late or adult onset). Population and newborn screening programs have also identified several healthy individuals with normal immunity who have partial ADA deficiency. SIMILARITY: Belongs to the adenosine and AMP deaminases family. WEB RESOURCE: Name=ADAbase; Note=ADA mutation db; URL="http://bioinf.uta.fi/ADAbase/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ADA"; WEB RESOURCE: Name=Wikipedia; Note=Adenosine deaminase entry; URL="http://en.wikipedia.org/wiki/Adenosine_deaminase"; WEB RESOURCE: Name=Mendelian genes adenosine deaminase (ADA); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/ADA";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P00813
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001666 response to hypoxia GO:0001701 in utero embryonic development GO:0001821 histamine secretion GO:0001829 trophectodermal cell differentiation GO:0001889 liver development GO:0001890 placenta development GO:0002314 germinal center B cell differentiation GO:0002636 positive regulation of germinal center formation GO:0002686 negative regulation of leukocyte migration GO:0002906 negative regulation of mature B cell apoptotic process GO:0006154 adenosine catabolic process GO:0006157 deoxyadenosine catabolic process GO:0007155 cell adhesion GO:0007568 aging GO:0009117 nucleotide metabolic process GO:0009168 purine ribonucleoside monophosphate biosynthetic process GO:0010460 positive regulation of heart rate GO:0030324 lung development GO:0030890 positive regulation of B cell proliferation GO:0032261 purine nucleotide salvage GO:0033089 positive regulation of T cell differentiation in thymus GO:0033197 response to vitamin E GO:0033632 regulation of cell-cell adhesion mediated by integrin GO:0042110 T cell activation GO:0042323 negative regulation of circadian sleep/wake cycle, non-REM sleep GO:0042493 response to drug GO:0042542 response to hydrogen peroxide GO:0043066 negative regulation of apoptotic process GO:0043101 purine-containing compound salvage GO:0043103 hypoxanthine salvage GO:0043278 response to morphine GO:0045187 regulation of circadian sleep/wake cycle, sleep GO:0045580 regulation of T cell differentiation GO:0045582 positive regulation of T cell differentiation GO:0045987 positive regulation of smooth muscle contraction 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:0046638 positive regulation of alpha-beta T cell differentiation 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:0050862 positive regulation of T cell receptor signaling pathway GO:0050870 positive regulation of T cell activation GO:0060169 negative regulation of adenosine receptor signaling pathway GO:0060407 negative regulation of penile erection GO:0070244 negative regulation of thymocyte apoptotic process GO:0070256 negative regulation of mucus secretion