Human Gene APRT (uc002flv.3) Description and Page Index
Description: Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA. RefSeq Summary (NM_000485): 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, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr16:88,875,877-88,878,342 Size: 2,466 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr16:88,876,106-88,878,307 Size: 2,202 Coding Exon Count: 5
ID:APT_HUMAN DESCRIPTION: RecName: Full=Adenine phosphoribosyltransferase; Short=APRT; EC=220.127.116.11; FUNCTION: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis. CATALYTIC ACTIVITY: AMP + diphosphate = adenine + 5-phospho-alpha- D-ribose 1-diphosphate. PATHWAY: Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1. SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Cytoplasm. DISEASE: Defects in APRT are the cause of adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]; also known as 2,8-dihydroxyadenine urolithiasis. An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. SIMILARITY: Belongs to the purine/pyrimidine phosphoribosyltransferase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APRT"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/aprt/"; WEB RESOURCE: Name=Wikipedia; Note=Adenine phosphoribosyltransferase entry; URL="http://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase";
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 P07741
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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.