Primary Information |
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BoMiProt ID | Bomi2323 |
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Protein Name | Hypoxanthine-guanine phosphoribosyltransferase |
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Organism | Bos taurus |
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Uniprot ID | Q3SZ18 |
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Milk Fraction | Exosome |
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Ref Sequence ID | NP_001029207.1 |
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Aminoacid Length | 218 |
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Molecular Weight | 24498 |
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FASTA Sequence |
Download |
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Gene Name | HPRT1 |
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Gene ID | 281229 |
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Protein Existence Status | Reviewed: Experimental evidence at transcript level |
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Secondary Information |
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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. |
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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. |
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PTMs | N6-acetylation at Lysine,Isopeptide bond formation, Phosphorylation at Thr, Ubl conjugation |
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Site(s) of PTM(s)
N-glycosylation,
O-glycosylation,
Phosphorylation
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Predicted Disorder Regions | NA |
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DisProt Annotation | |
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TM Helix Prediction | No TM helices |
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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. |
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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. |