Search by BoMiProt ID - Bomi2323


Primary Information

BoMiProt ID Bomi2323
Protein Name Hypoxanthine-guanine phosphoribosyltransferase
Organism Bos taurus
Uniprot IDQ3SZ18
Milk FractionExosome
Ref Sequence ID NP_001029207.1
Aminoacid Length 218
Molecular Weight 24498
FASTA Sequence Download
Gene Name HPRT1
Gene ID 281229
Protein Existence Status Reviewed: Experimental evidence at transcript level

Secondary Information

Protein Function Hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) is a purine salvage enzyme that catalyses the conversion of hypoxanthine and guanine to their respective mononucleotides. 
Biochemical Properties From the comparison of the amino acid sequences of human HPRT,Salmonella typhimurium ATP phosphoribosyltransferase and Escherichia coli guanine phosphoribosyltransferase (GPRT) for both sequence homology and predicted physical characteristics. Sequence homology suggested a common catalytic domain for HPRT and GPRT between HPRT codons 117 and 151. Because the structural plots for the N-terminal 120 residues predicted a beta-alpha-beta pattern in all three phosphoribosyltransferases, it is also concluded that this would be the most probable dinucleotide binding domain. Further analysis gave the predicted secondary structure of HPRT from humans,Plasmodium falciparum and Schistosoma mansoni, and found a common beta-alpha-beta structure (possibly the substrate binding area) between human HPRT codons 28 and 70.
PTMs N6-acetylation at Lysine,Isopeptide bond formation, Phosphorylation at Thr, Ubl conjugation
Site(s) of PTM(s)

N-glycosylation, O-glycosylation,
Phosphorylation
Predicted Disorder Regions NA
DisProt Annotation
TM Helix Prediction No TM helices
Additional Comments Partial deficiency of this enzyme can result in the overproduction of uric acid leading to a severe form of gout, whilst a virtual absence of HPRT activity causes the Lesch-Nyhan syndrome which is characterised by hyperuricaemia, mental retardation, choreoathetosis and compulsive self-mutilation.
Bibliography 1.Sculley DG, Dawson PA, Emmerson BT, Gordon RB. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet. 1992 Nov;90(3):195-207. doi: 10.1007/BF00220062. PMID: 1487231. 2.Argos P, Hanei M, Wilson JM, Kelley WN (1983) A possible nucleotide-binding domain in the tertiary fold of phosphoribosyltransferases. J Biol Chem 258 : 6450-6457. 3.Craig SP, McKerrow JH, Newport GR, Wang CC (1988) Analysis of cDNA encoding the hypoxanthine-guanine phosphoribosyltransferase (HGPTase) of Schistosoma mansoni; a putative target for chemotherapy. Nucleic Acids Res 16 : 7087-7101.