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MGP000050

UniProt Annotations

Entry Information
Gene Nameadenosine deaminase
Protein EntryADA_HUMAN
UniProt IDP00813
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityAdenosine + H(2)O = inosine + NH(3).
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000269|Ref.18}; Note=Binds 1 zinc ion per subunit. {ECO:0000269|Ref.18};
DiseaseSevere combined immunodeficiency autosomal recessive T- cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]: An autosomal recessive disorder accounting for about 50% of non-X-linked SCIDs. 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 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. {ECO:0000269|PubMed:10200056, ECO:0000269|PubMed:1284479, ECO:0000269|PubMed:2166947, ECO:0000269|PubMed:2783588, ECO:0000269|PubMed:3182793, ECO:0000269|PubMed:3839802, ECO:0000269|PubMed:6208479, ECO:0000269|PubMed:7599635, ECO:0000269|PubMed:8227344, ECO:0000269|PubMed:8299233}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes 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. {ECO:0000269|PubMed:11772392}.
PolymorphismThere 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.
SimilarityBelongs to the adenosine and AMP deaminases family. {ECO:0000305}.
Subcellular LocationCell membrane; Peripheral membrane protein; Extracellular side. Cell junction. Cytoplasmic vesicle lumen {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Colocalized with DPP4 at the cell junction in lymphocyte-epithelial cell adhesion.
SubunitInteracts with DPP4 (extracellular domain). {ECO:0000269|PubMed:10951221, ECO:0000269|PubMed:14691230, ECO:0000269|PubMed:7907293, ECO:0000269|PubMed:8101391, ECO:0000269|Ref.18}.
Tissue SpecificityFound in all tissues, occurs in large amounts in T-lymphocytes and, at the time of weaning, in gastrointestinal tissues.
Web ResourceName=ADAbase; Note=ADA mutation db; URL="http://structure.bmc.lu.se/idbase/ADAbase/";
Web ResourceName=Mendelian genes adenosine deaminase (ADA); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/ADA";
Web ResourceName=Wikipedia; Note=Adenosine deaminase entry; URL="http://en.wikipedia.org/wiki/Adenosine_deaminase";
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