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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:0060058 | lymphoma | |
| DOID:0060180 | colitis | |
| DOID:0060189 | ileitis | |
| DOID:0060190 | ileocolitis | |
| DOID:0060248 | Simpson-Golabi-Behmel syndrome type 1 | |
| DOID:0060284 | paroxysmal nocturnal hemoglobinuria | |
| DOID:0060318 | acute promyelocytic leukemia | |
| DOID:0060474 | familial erythrocytosis 2 | |
| DOID:0060705 | X-linked lymphoproliferative syndrome 1 | |
| DOID:0060706 | X-linked lymphoproliferative syndrome 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000029 | Testicular atrophy |
| HP:0000083 | Renal insufficiency |
| HP:0000112 | Nephropathy |
| HP:0000121 | Nephrocalcinosis |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000708 | Atypical behavior |
| HP:0000742 | Self-mutilation |
| HP:0000787 | Nephrolithiasis |
| HP:0000790 | Hematuria |
| HP:0000791 | Uric acid nephrolithiasis |
| 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 |
|---|---|---|---|
| 105481416 | MACNE30631 | ||
| 101022686 | PAPAN43212 | ||
| 105554749 | MANLE29710 | ||
| 101131143 | GORGO43148 | ||
| 100983625 | PANPA42133 | ||
| 735894 | PANTR46828 | ||
| 100447935 | PONAB37490 | ||
| 442945 | CANLF20174 | ||
| 112927879 | VULVU22395 | ||
| 123787084 | URSAM27660 |
