NP_000476.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
14,557 Da
NCBI Official Full Name
adenine phosphoribosyltransferase isoform a
NCBI Official Synonym Full Names
adenine phosphoribosyltransferase
NCBI Official Synonym Symbols
NCBI Protein Information
adenine phosphoribosyltransferase
UniProt Protein Name
Adenine phosphoribosyltransferase
UniProt Synonym Gene Names
UniProt Entry Name
APT_HUMAN
NCBI Summary for APRT
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]
UniProt Comments for APRT
APRT: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis. Defects in APRT are the cause of adenine phosphoribosyltransferase deficiency (APRTD); 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. Belongs to the purine/pyrimidine phosphoribosyltransferase family.
Protein type: Nucleotide Metabolism - purine; Transferase; EC 2.4.2.7
Chromosomal Location of Human Ortholog: 16q24
Cellular Component: cytoplasm; cytosol; nucleoplasm
Molecular Function: adenine binding; adenine phosphoribosyltransferase activity; AMP binding
Biological Process: adenine salvage; cellular response to insulin stimulus; grooming behavior; lactation; purine salvage
Disease: Adenine Phosphoribosyltransferase Deficiency
Research Articles on APRT
Precautions
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Pathways associated with anti-APRT antibody
Diseases associated with anti-APRT antibody
Organs/Tissues associated with anti-APRT antibody
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