HPRT1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | HPRT1 |
| Official Name | hypoxanthine phosphoribosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:5157] |
| Ensembl ID | ENSG00000165704 |
| Bio databases IDs | |
| Aliases | hypoxanthine phosphoribosyltransferase 1, Lesch-Nyhan syndrome, hypoxanthine guanine phosphoribosyl transferase |
| Synonyms | C81579, HGPRT, Hgprtase, HPGRT, HPRT, Hypoxanthine Phosphoribosyltransferase, hypoxanthine phosphoribosyltransferase 1, LOC103689983 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HPRT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- hypoxanthine phosphoribosyltransferase
- pentosyltransferase
- Phosphoribosyl transferase domain
- polyglutamine repeat
- glutamine repeat domain
- Phosphoribosyl transferase (PRT)-type I domain
- enzyme
- protein binding
- magnesium ion binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- neoplasia
- lung cancer
- motor dysfunction
- Philadelphia-like B-cell acute lymphoblastic leukemia
- acute lymphoblastic lymphoma
- Lesch-Nyhan syndrome
- graft rejection
- ulcerative colitis
- high-risk acute lymphocytic leukemia
role in cell
- quantity
- proliferation
- cell death
- expression in
- activation in
- differentiation
- phosphorylation in
- development
- formation
- formation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HPRT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- dopamine metabolic process
- purine nucleotide biosynthetic process
- hypoxanthine salvage
- purine ribonucleoside salvage
- GMP catabolic process
- striatum development
- central nervous system neuron development
- positive regulation of dopamine metabolic process
- cerebral cortex neuron differentiation
- dendrite morphogenesis
- IMP metabolic process
- grooming behavior
- locomotory behavior
- protein homotetramerization
- hypoxanthine metabolic process
- adenine metabolic process
- AMP salvage
- GMP salvage
- IMP salvage
- guanine salvage
- response to amphetamine
- lymphocyte proliferation
- dopaminergic neuron differentiation
- T cell mediated cytotoxicity
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- nucleotide binding
- identical protein binding
- protein binding
- guanine phosphoribosyltransferase activity
- hypoxanthine phosphoribosyltransferase activity