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MGP000177

UniProt Annotations

Entry Information
Gene Nameadenine phosphoribosyltransferase
Protein EntryAPT_HUMAN
UniProt IDP07741
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P07741-1; Sequence=Displayed; Name=2; IsoId=P07741-2; Sequence=VSP_045705; Note=No experimental confirmation available.;
Catalytic ActivityAMP + diphosphate = adenine + 5-phospho-alpha- D-ribose 1-diphosphate.
DiseaseAdenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. {ECO:0000269|PubMed:11243733, ECO:0000269|PubMed:1353080, ECO:0000269|PubMed:15571218, ECO:0000269|PubMed:1746557, ECO:0000269|PubMed:21635362, ECO:0000269|PubMed:3343350, ECO:0000269|PubMed:3680503, ECO:0000269|PubMed:7915931}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
PathwayPurine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1.
SimilarityBelongs to the purine/pyrimidine phosphoribosyltransferase family. {ECO:0000305}.
Subcellular LocationCytoplasm.
SubunitHomodimer.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/aprt/";
Web ResourceName=Wikipedia; Note=Adenine phosphoribosyltransferase entry; URL="http://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase";
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