| 731296 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009] | X | 134460165 | 134500668 | Human | 515 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1319125 | EIF3B | eukaryotic translation initiation factor 3 subunit B | Enables RNA binding activity. Contributes to translation initiation factor activity. Involved in several processes, including IRES-dependent viral translational initiation; translational initiation; and viral translational termination-reinitiation. Located in cytoplasmic stress granule. Part of euka ryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Jul 2025] | 7 | 2354086 | 2380745 | Human | 181 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 9854675 | HPRT1P1 | hypoxanthine phosphoribosyltransferase 1 pseudogene 1 | | 4 | 15864738 | 15865197 | Human | | symbol , COSMIC , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 1351283 | HPRT1P2 | hypoxanthine phosphoribosyltransferase 1 pseudogene 2 | | 5 | 30248374 | 30249481 | Human | | symbol , COSMIC , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 1342808 | HPRT1P3 | hypoxanthine phosphoribosyltransferase 1 pseudogene 3 | | 11 | 93998643 | 93999232 | Human | | symbol , COSMIC , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |