HPRT (hypoxanthine phosphoribosyltransferase 1), also known as HGPRT or HPRT1, is a 218 amino acid cytoplasmic protein that belongs to the purine/pyrimidine phosphoribosyltransferase family. Involved in purine metabolism, HPRT functions as a purine salvage enzyme that catalyzes the conversion of hypoxathine and guanine to their respective mononucleotides (inosine monophosphate and guanosine monophosphate, respectively). HPRT exists as a homotetramer that can bind two magnesium ions as cofactors. Defects in the gene encoding HPRT are the cause of gout and Lesch-Nyhan syndrome (LNS), both of which are characterized by a partial or complete lack of NPRT enzymatic activity. While a partial loss of HPRT enzymatic activity results in a buildup of uric acid (gout), a total loss of enzymatic activity results in hyperuricaemia, mental retardation, choreoathetosis and compulsive self-mutilation, all of which are symptoms associated with LNS. The severity of these diseases suggests an essential role for HPRT in purine metabolism.
Background References
1. Fernández-Mosquera L et al. Acute and chronic mitochondrial respiratory chain deficiency differentially regulate lysosomal biogenesis. Sci Rep 7:45076 (2017).
2. Angelika Ihle M et al. HR23b expression is a potential predictive biomarker for HDAC inhibitor treatment in mesenchymal tumours and is associated with response to vorinostat. J Pathol Clin Res 2:59-71 (2016).
Sequence Similarity
Belongs to the purine/pyrimidine phosphoribosyltransferase family.
Western blot analysis of HPRT on different lysates with Rabbit anti-HPRT antibody (ET1706-08) at 1/1,000 dilution.
Lane 1: HeLa cell lysate Lane 2: NIH/3T3 cell lysate Lane 3: C6 cell lysate Lane 4: PC-12 cell lysate
Lysates/proteins at 20 µg/Lane.
Predicted band size: 25 kDa Observed band size: 25 kDa
Exposure time: 4 seconds; ECL: K1801;
4-20% SDS-PAGE gel.
Proteins were transferred to a PVDF membrane and blocked with 5% NFDM/TBST for 1 hour at room temperature. The primary antibody (ET1706-08) at 1/1,000 dilution was used in 5% NFDM/TBST at 4℃ overnight. Goat Anti-Rabbit IgG - HRP Secondary Antibody (HA1001) at 1/50,000 dilution was used for 1 hour at room temperature.
Western blot analysis of HPRT on zebrafish tissue lysates with Rabbit anti-HPRT antibody (ET1706-08) at 1/1,000 dilution.
Lysates/proteins at 10 µg/Lane.
Predicted band size: 25 kDa Observed band size: 25 kDa
Exposure time: 2 minutes 18 seconds; ECL: K1801;
4-20% SDS-PAGE gel.
Proteins were transferred to a PVDF membrane and blocked with 5% NFDM/TBST for 1 hour at room temperature. The primary antibody (ET1706-08) at 1/1,000 dilution was used in 5% NFDM/TBST at 4℃ overnight. Goat Anti-Rabbit IgG - HRP Secondary Antibody (HA1001) at 1/50,000 dilution was used for 1 hour at room temperature.
Application: Immunohistochemistry (IHC-P)
Species: Human Tissue: Colon cancer Sample: Paraffin-embedded section