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Details on Person UniProt:P00492 HPRT1
| Class:Id | ReferenceGeneProduct:56640 |
|---|---|
| _chainChangeLog | initiator methionine:1 added on Fri February 6 2015;chain:2-218 added on Fri February 6 2015;initiator methionine:1 for 56640 removed on Fri Nov 03 2023;initiator methionine: for 56640 added on Fri Nov 03 2023;initiator methionine: for 56640 removed on Fri Aug 15 2025;initiator methionine:1 for 56640 added on Fri Aug 15 2025 |
| _displayName | UniProt:P00492 HPRT1 |
| _timestamp | 2025-08-15 21:45:50 |
| chain | initiator methionine:1 chain:2-218 |
| checksum | 1928EE69517CCB40 |
| comment | FUNCTION Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.CATALYTIC ACTIVITY IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphateCATALYTIC ACTIVITY GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphateCOFACTOR Binds 2 magnesium ions per subunit. The magnesium ions are essentially bound to the substrate and have few direct interactions with the protein.BIOPHYSICOCHEMICAL PROPERTIES Purine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1.SUBUNIT Homotetramer.INTERACTION The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the purine/pyrimidine phosphoribosyltransferase family.ONLINE INFORMATION Hypoxanthine-guanine phosphoribosyltransferase entry |
| description | recommendedName: Hypoxanthine-guanine phosphoribosyltransferase shortName: HGPRT shortName: HGPRTase ecNumber evidence="3 13"2.4.2.8 |
| geneName | HPRT1 HPRT |
| identifier | P00492 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Cytoplasm Direct protein sequencing Disease variant Glycosyltransferase Gout Isopeptide bond Magnesium Metal-binding Nucleotide-binding Phosphoprotein Proteomics identification Purine salvage Reference proteome Transferase Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | HPRT1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8990750] ENSEMBL:ENSG00000165704 HPRT1 [Homo sapiens] |
| secondaryIdentifier | HPRT_HUMAN A6NHF0 B2R8M9 |
| sequenceLength | 218 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:56639] HPRT1 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9734264] HPRT1 G140D [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9734269] HPRT1 D194N [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9734286] HPRT1 G70E [cytosol] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:9734272] glycine 140 replaced with L-aspartic acid [ReplacedResidue:9734276] glycine 70 replaced with L-glutamic acid [ReplacedResidue:9734296] L-aspartic acid 194 replaced with L-asparagine |
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No pathways have been reviewed or authored by UniProt:P00492 HPRT1 (56640)
