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Description for Protein APRT

adenine phosphoribosyltransferase
3 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 6/1)
(cAMP/cGMP binding: 1; membrane: 1; microparticles: 1; platelet: 2; secretome: 2; undefined: 1)
Summary:
Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.4.2.7
KEGG - Orthology:
K00759
KEGG - Pathway(s):
hsa00230; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
AMP; MGC125856; MGC125857; DKFZp686D13177; Adenine phosphoribosyltransferase isoform a; Adenine phosphoribosyltransferase isoform b; AMP pyrophosphorylase; AMP diphosphorylase; Transphosphoribosidase; EC 2.4.2.7
Approved Symbol:
APRT
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 7
Human (de-) phosphorylation sites: 7; 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):

  • 9-Deazaadenine(db);
  • Adenine(db);
  • Adenosine monophosphate(db);
  • Alpha-Phosphoribosylpyrophosphoric Acid(db);
  • Citric Acid(db)

    Associated Genetic Diseases:

  • APRT deficiency(Pd);
  • APRT deficiency due to type I allele(Pd);
  • APRT deficiency, Japanese type(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00029 Entrez Gene ID: 353 OMIM ID: 102600 Swissprot Accession: P07741;