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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
phosphoribosyl pyrophosphate synthetase 1
Summary
- Gene Symbol
-
- PRPS1
- Aliases
-
- CMTX5
- DFNX1
- PPRibP
- PRS I
- PRS-I
- ribose-phosphate diphosphokinase 1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Alternative splicing
- Charcot-Marie-Tooth disease
- Direct protein sequencing
- Disease variant
- Gout
- Intellectual disability
- Kinase
- Magnesium
- Metal-binding
- Neurodegeneration
- Non-syndromic deafness
- Nucleotide biosynthesis
- Reference proteome
- Retinitis pigmentosa
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| purine nucleotide biosynthetic process | ||
| urate biosynthetic process | ||
| pyrimidine nucleotide biosynthetic process |
|
GO Hierarchy
biological process
metabolic process [inference]
nitrogen compound metabolic process [inference]
biosynthetic process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
phosphorus metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
cellular biosynthetic process [inference]
heterocycle metabolic process [inference]
primary metabolic process [inference]
small molecule metabolic process [inference]
organic substance metabolic process [inference]
cellular process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
phosphorus metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
cellular biosynthetic process [inference]
heterocycle metabolic process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| ribose phosphate diphosphokinase complex | ||
| cytosol |
|
|
| cytoplasm |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| kinase activity | ||
| magnesium ion binding | ||
| protein homodimerization activity | ||
| ATP binding | ||
| protein binding |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110206 | Charcot-Marie-Tooth disease dominant intermediate F | |
| DOID:0110207 | Charcot-Marie-Tooth disease X-linked dominant 6 | |
| DOID:0110208 | Charcot-Marie-Tooth disease X-linked recessive 2 | |
| DOID:0110209 | Charcot-Marie-Tooth disease X-linked dominant 1 | |
| DOID:0110210 | Charcot-Marie-Tooth disease X-linked recessive 5 | |
| DOID:0110211 | Charcot-Marie-Tooth disease X-linked recessive 3 | |
| DOID:0110212 | Charcot-Marie-Tooth disease X-linked recessive 4 | |
| DOID:0110734 | neurodegeneration with brain iron accumulation | |
| DOID:0111260 | phosphoribosylpyrophosphate synthetase superactivity | |
| DOID:0111739 | X-linked deafness 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003537 | Hypouricemia |
| HP:0003577 | Congenital onset |
| HP:0003693 | Distal amyotrophy |
| HP:0003712 | Skeletal muscle hypertrophy |
| HP:0003819 | Death in childhood |
| HP:0003828 | Variable expressivity |
| HP:0004322 | Short stature |
| HP:0004639 | Elevated amniotic fluid alpha-fetoprotein |
| HP:0004887 | Respiratory failure requiring assisted ventilation |
| HP:0005280 | Depressed nasal bridge |
| Disease ID | Disease Name |
|---|---|
| ORPHA:423479 |
|
| OMIM:311070 |
|
| ORPHA:411543 |
|
| OMIM:301835 |
|
| OMIM:304500 |
|
| ORPHA:1187 |
|
| ORPHA:411536 |
|
| OMIM:300661 |
|
| ORPHA:99014 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 176016 | WB:WBGene00020107 | ||
| 39132 | FB:FBgn0036030 | ||
| 103177083 | CALMI01322 | ||
| 102365931 | LATCH09778 | ||
| 140620 | ZFIN:ZDB-GENE-011212-5 | DANRE35525 | |
| 560827 | ZFIN:ZDB-GENE-030131-4011 | DANRE06575 | |
| 103031347 | ASTMX10717 | ||
| 103045742 | ASTMX01151 | ||
| 108269253 | ICTPU33645 | ||
| 128629352 | ICTPU33645 |
