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hypoxanthine-guanine phosphoribosyltransferase (HGPRT, HPRT, HPRT1)
Function:
- purine metabolism; IMP biosynthesis via salvage pathway
- IMP from hypoxanthine: step 1/1
IMP + diphosphate
hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate
GMP + diphosphate
guanine + 5-phospho-alpha-D-ribose 1-diphosphate
Cofactor:
- binds 2 Mg+2 per subunit
- One of the ions does not make direct protein contacts
Structure:
- homotetramer
- belongs to the purine/pyrimidine phosphoribosyltransferase family
Compartment: cytoplasm
Pathology:
- defects in HPRT1 are the cause
a) Lesch-Nyhan syndrome
b) gout
Laboratory:
- hypoxanthine phosphoribosyltransferase in amniotic fluid
- hypoxanthine phosphoribosyltransferase in chorionic villus
- hypoxanthine phosphoribosyltransferase in placenta
- hypoxanthine phosphoribosyltransferase in tissue
- hypoxanthine phosphoribosyltransferase in erythrocytes
Related
HRPT1 gene
General
phosphoribosyltransferase
Properties
SIZE: entity length = 218 aa
MW = 25 kD
COMPARTMENT: cytoplasm
MOTIF: Mg+2-binding site
SITE: 194-194
Database Correlations
OMIM correlations
UniProt P00492
Pfam PF00156
KEGG correlations
ENZYME 2.4.2.8
References
- UniProt :accession P00492
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=HPRT1
- Wikipedia: Hypoxanthine-guanine phosphoribosyltransferase entry
http://en.wikipedia.org/wiki/Hypoxanthine-guanine_phosphoribosyltransferase