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hypoxanthine phosphoribosyltransferase 1
Summary
- Gene Symbol
-
- HPRT1
- Aliases
-
- HGPRT
- Lesch-Nyhan syndrome
- hypoxanthine guanine phosphoribosyl transferase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Cytoplasm
- Direct protein sequencing
- Disease variant
- Glycosyltransferase
- Gout
- Isopeptide bond
- Magnesium
- Metal-binding
- Nucleotide-binding
- Phosphoprotein
- Purine salvage
- Reference proteome
- Ubl conjugation
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A140VJL3 |
|
| P00492 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| central nervous system neuron development | ||
| lymphocyte proliferation | ||
| dendrite morphogenesis | ||
| purine nucleotide biosynthetic process |
GO Hierarchy
biological process
metabolic process [inference]
nitrogen compound metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
nucleobase-containing compound biosynthetic process [inference]
nucleobase-containing small molecule metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
purine-containing compound metabolic process [inference]
organonitrogen compound metabolic process [inference]
catabolic process [inference]
biosynthetic process [inference]
cellular biosynthetic process [inference]
heterocycle biosynthetic process [inference]
aromatic compound biosynthetic process [inference]
cellular nitrogen compound biosynthetic process [inference]
organic substance biosynthetic process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
nucleobase-containing compound biosynthetic process [inference]
nucleobase-containing small molecule metabolic process [inference]
aromatic compound biosynthetic process [inference]
purine-containing compound metabolic process [inference]
phosphorus metabolic process [inference]
phosphate-containing compound metabolic process [inference]
organophosphate metabolic process [inference]
nucleoside phosphate metabolic process [inference]
ribose phosphate metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
nucleobase-containing compound biosynthetic process [inference]
nucleobase-containing small molecule metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
purine-containing compound metabolic process [inference]
cellular catabolic process [inference]
cellular biosynthetic process [inference]
heterocycle biosynthetic process [inference]
aromatic compound biosynthetic process [inference]
cellular nitrogen compound biosynthetic process [inference]
heterocycle metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
nucleobase-containing compound biosynthetic process [inference]
nucleobase-containing small molecule metabolic process [inference]
heterocycle biosynthetic process [inference]
purine-containing compound metabolic process [inference]
primary metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
nucleobase-containing compound biosynthetic process [inference]
nucleobase-containing small molecule metabolic process [inference]
small molecule metabolic process [inference]
nucleobase-containing small molecule metabolic process [inference]
organic substance metabolic process [inference]
organophosphate metabolic process [inference]
nucleoside phosphate metabolic process [inference]
ribose phosphate metabolic process [inference]
carbohydrate derivative metabolic process [inference]
organic cyclic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
nucleobase-containing compound biosynthetic process [inference]
nucleobase-containing small molecule metabolic process [inference]
purine-containing compound metabolic process [inference]
organic cyclic compound biosynthetic process [inference]
organonitrogen compound metabolic process [inference]
organic substance catabolic process [inference]
organic substance biosynthetic process [inference]
cellular process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
nucleobase-containing compound biosynthetic process [inference]
nucleobase-containing small molecule metabolic process [inference]
aromatic compound biosynthetic process [inference]
purine-containing compound metabolic process [inference]
phosphorus metabolic process [inference]
phosphate-containing compound metabolic process [inference]
organophosphate metabolic process [inference]
nucleoside phosphate metabolic process [inference]
ribose phosphate metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
nucleobase-containing compound biosynthetic process [inference]
nucleobase-containing small molecule metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
purine-containing compound metabolic process [inference]
cellular catabolic process [inference]
cellular biosynthetic process [inference]
heterocycle biosynthetic process [inference]
aromatic compound biosynthetic process [inference]
cellular nitrogen compound biosynthetic process [inference]
heterocycle metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
nucleobase-containing compound biosynthetic process [inference]
nucleobase-containing small molecule metabolic process [inference]
heterocycle biosynthetic process [inference]
purine-containing compound metabolic process [inference]
biological regulation [inference]
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| hypoxanthine phosphoribosyltransferase activity | ||
| magnesium ion binding | ||
| protein binding | ||
| guanine phosphoribosyltransferase activity | ||
| nucleotide binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:3355 | fibrosarcoma | |
| DOID:0040085 | bacterial sepsis | |
| DOID:0050427 | xeroderma pigmentosum | |
| DOID:0050461 | aspartylglucosaminuria | |
| DOID:0050589 | inflammatory bowel disease | |
| DOID:0050635 | alternating hemiplegia of childhood | |
| DOID:0050681 | Borjeson-Forssman-Lehmann syndrome | |
| DOID:0050776 | non-syndromic X-linked intellectual disability | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0060022 | CD40 ligand deficiency |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002149 | Hyperuricemia |
| HP:0002179 | Opisthotonus |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002421 | Poor head control |
| HP:0002827 | Hip dislocation |
| HP:0003149 | Hyperuricosuria |
| HP:0003259 | Elevated circulating creatinine concentration |
| HP:0003593 | Infantile onset |
| HP:0003621 | Juvenile onset |
| HP:0004322 | Short stature |
| Disease ID | Disease Name |
|---|---|
| ORPHA:510 |
|
| ORPHA:79233 |
|
| OMIM:300322 |
|
| OMIM:300323 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100231349 | TAEGU23002 | ||
| 104668871 | RHIRO41013 | ||
| 100581397 | NOMLE38346 | ||
| 107560739 | SINGR17947 | ||
| 107601120 | SINGR64529 | ||
| 116820572 | CHEAB04909 | ||
| 115049604 | ECHNA29971 | ||
| 115399551 | SALFA01225 | ||
| 105817690 | PROCO06327 | ||
| 103728778 | NANGA05040 |
