HPRT1
Hypoxanthine Phosphoribosyltransferase 1
Gene Information Card
| Symbol | HPRT1 |
|---|---|
| Full Name | Hypoxanthine Phosphoribosyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq26.2-q26.3 |
| NCBI Gene ID | 3251 ncbi.nlm.nih.gov/gene/3251 |
| Ensembl ID | ENSG00000165704 |
| UniProt ID | P00492 |
| OMIM ID | 308000 |
| HGNC ID | 5157 |
| Aliases | HGPRT, HPRT, Lesch-Nyhan |
Description
The HPRT1 gene encodes hypoxanthine phosphoribosyltransferase 1, an enzyme that catalyzes the conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate in the purine salvage pathway. Deficiency of this enzyme leads to Lesch-Nyhan syndrome, characterized by hyperuricemia, neurological dysfunction, and self-injurious behavior.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lesch-Nyhan syndrome | Loss-of-function mutations in HPRT1 cause complete enzyme deficiency, leading to accumulation of uric acid and neurological impairment. | ClinVar, OMIM |
| HPRT-related hyperuricemia | Partial deficiency of HPRT1 results in hyperuricemia and gout without severe neurological symptoms. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Kidney | 6.5 | Low |
| Testis | 15.1 | High |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 14.2 | High expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 11.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.151C>T (p.Arg51Ter) | Nonsense | Common in Lesch-Nyhan | Loss of function |
| c.143G>A (p.Gly48Glu) | Missense | Rare | Partial loss of function |
| c.3G>A (p.Met1Ile) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Complete loss of HPRT1 enzymatic activity leads to Lesch-Nyhan syndrome.
Gain of Function (GOF)
Not reported for HPRT1.
Dominant Negative (DN)
Not reported for HPRT1.
View complete mutation data：
Gene Ontology (GO)
| • hypoxanthine phosphoribosyltransferase activity | • guanine phosphoribosyltransferase activity |
| • purine salvage | • IMP biosynthetic process |
| • GMP biosynthetic process |
Pathways
• Purine metabolism (KEGG: hsa00230)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
HPRT1 is a 218-amino acid protein that functions as a homotetramer. It catalyzes the transfer of a phosphoribosyl group from 5-phosphoribosyl-1-pyrophosphate to hypoxanthine or guanine, forming IMP or GMP, respectively. The enzyme is critical for purine recycling and is expressed in all tissues, with highest levels in the brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HPRT1 Knockout HEK293 Cell Line | EDJ-KQ3913 | Human | 3251 | Details Get a Quote |
| HPRT1 Knockout A-549 Cell Line | EDJ-KQ26134 | Human | 3251 | Details Get a Quote |
| HPRT1 Knockout HCT 116 Cell Line | EDJ-KQ26135 | Human | 3251 | Details Get a Quote |
| HPRT1 Knockout HeLa Cell Line | EDC90498 | Human | 3251 | Details Get a Quote |
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