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Description for Protein ADA

adenosine deaminase
7 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
3.5.4.4
KEGG - Orthology:
K01488
KEGG - Pathway(s):
hsa00230; hsa01100; hsa05340
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Adenosine aminohydrolase
Approved Symbol:
ADA
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 3
Human (de-) phosphorylation sites: 3; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • (2S,3R)-3-(6-amino-9H-purin-9-yl)nonan-2-ol(db);
  • 1-((1R)-1-(HYDROXYMETHYL)-3-{6-[(3-PHENYLPROPANOYL)AMINO]-1H-INDOL-1-YL}PROPYL)-1H-IMIDAZOLE-4-CARBOXAMIDE(db);
  • 1-((1R,2S)-1-{2-[2-(4-CHLOROPHENYL)-1,3-BENZOXAZOL-7-YL]ETHYL}-2-HYDROXYPROPYL)-1H-IMIDAZOLE-4-CARBOXAMIDE(db);
  • 1-Deaza-Adenosine(db);
  • 1-{(1R,2S)-2-HYDROXY-1-[2-(2-NAPHTHYLOXY)ETHYL]PROPYL}-1H-IMIDAZONE-4-CARBOXAMIDE(db);
  • 6-Hydroxy-1,6-Dihydro Purine Nucleoside(db);
  • 6-Hydroxy-7,8-Dihydro Purine Nucleoside(db);
  • Dipyridamole(db);
  • FR117016(db);
  • FR221647(db);
  • FR230513(db);
  • FR233623(db);
  • FR236913(db);
  • FR239087(db);
  • Pentostatin(db);
  • Purine Riboside(db)

    Associated Genetic Diseases:

  • Adenosine deaminase 2 allozyme(Pd);
  • Adenosine deaminase deficiency, partial(Pd);
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency(Pd);
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, B cell-negative, NK cell-negative, due to ada deficiency(Pd);
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, delayed onset(Pd);
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, late onset(Pd);
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, late-onset(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00038 Entrez Gene ID: 100 OMIM ID: 608958 Swissprot Accession: P00813;