Adenine phosphoribosyltransferase

Adenine phosphoribosyltransferase
250px Ribbon diagram of a human APRT dimer, in complex with PRPP, adenine and ribose 5-phosphate. One magnesium ion visible in green. From PDB: 1ZN7​.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1OPU, 1ORE, 1ZN7, 1ZN8, 1ZN9
Identifiers
Symbols	APRT ; AMP; APRTD
External IDs	OMIM: 102600 MGI: 88061 HomoloGene: 413 GeneCards: APRT Gene
EC number	2.4.2.7
Gene ontology Molecular function • adenine binding • adenine phosphoribosyltransferase activity • AMP binding Cellular component • nucleoplasm • cytoplasm • cytosol • extracellular exosome Biological process • purine nucleobase metabolic process • adenine salvage • lactation • grooming behavior • cellular response to insulin stimulus • purine-containing compound salvage • AMP salvage • small molecule metabolic process • nucleobase-containing small molecule metabolic process Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE APRT 213892 s at tn.png
File:PBB GE APRT 203219 s at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	353	11821
Ensembl	ENSG00000198931	ENSMUSG00000006589
UniProt	P07741	P08030
RefSeq (mRNA)	NM_000485	NM_009698
RefSeq (protein)	NP_000476	NP_033828
Location (UCSC)	Chr 16: 88.81 – 88.81 Mb	Chr 8: 122.57 – 122.58 Mb
PubMed search	[1]	[2]

Adenine phosphoribosyltransferase is an enzyme that in humans is encoded by the APRT gene.

Function

APRTase is an enzyme involved in the purine nucleotide salvage pathway. It functions as a catalyst in the reaction between adenine and phosphoribosyl pyrophosphate (PRPP) to form AMP.

APRT is functionally related to hypoxanthine-guanine phosphoribosyltransferase (HPRT).

Pathology

Deficiency purines APRT in human beings may lead to kidney stones formed of adenine and salts.

2,8-Dihydroxy-adenine urolithiasis is also known as "adenine phosphoribosyltransferase deficiency".

Adenine phosphoribosyltransferase (APRT) deficiency is an uncommon genetic disorder that often causes kidney stones, and in some patients kidney failure. More than 300 individuals with this disease have been reported world-wide but it is not known how common this medical problem truly is. Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking down purines. This may result in the accumulation 2,8-dihydroxyadenine (2,8-DHA) that is excreted by the kidneys. 2,8-DHA is poorly soluble in the urine leads to the formation of kidney stones and kidney injury.

Interestingly, up to 70% of affected patients, have red hair or relatives with this hair color.

External links

• Adenine phosphoribosyltransferase at the US National Library of Medicine Medical Subject Headings (MeSH)