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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 |
|---|---|---|
| GMP catabolic process | ||
| locomotory behavior | ||
| IMP salvage | ||
| guanine salvage | ||
| cerebral cortex neuron differentiation |
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:585 | nephrolithiasis | |
| DOID:6114 | cerebral convexity meningioma | |
| DOID:615 | leukopenia | |
| DOID:6193 | epithelioid sarcoma | |
| DOID:633 | myositis | |
| DOID:640 | encephalomyelitis | |
| DOID:65 | connective tissue disease | |
| DOID:653 | purine-pyrimidine metabolic disorder | |
| DOID:6548 | angiomatous meningioma | |
| DOID:655 | inherited metabolic disorder |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001266 | Choreoathetosis |
| HP:0001270 | Motor delay |
| HP:0001332 | Dystonia |
| 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 |
|---|---|---|---|
| 173323 | WB:WBGene00013690 | ||
| 103178054 | CALMI01690 | ||
| 102354389 | LATCH17467 | ||
| 406259 | ZFIN:ZDB-GENE-040426-1918 | DANRE07528 | |
| 100528167 | ICTPU33979 | ||
| 108268988 | ICTPU33597 | ||
| 115205547 | SALTR113142 | ||
| 101163340 | ORYLA01437 | ||
| 100703204 | ORENI47815 | ||
| 779138 | Xenbase:XB-GENE-6078713 |
