phosphoribosyl pyrophosphate synthetase 1
| GO Term | Evidence Code | PMID |
|---|---|---|
| 5-phosphoribose 1-diphosphate biosynthetic process | ||
| 5-phosphoribose 1-diphosphate biosynthetic process | ||
| purine nucleobase metabolic process | ||
| purine nucleotide biosynthetic process | ||
| purine nucleotide biosynthetic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| magnesium ion binding | ||
| ribose phosphate diphosphokinase activity | ||
| ribose phosphate diphosphokinase activity | ||
| ribose phosphate diphosphokinase activity | ||
| protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050647 | Arts syndrome | |
| DOID:0110210 | Charcot-Marie-Tooth disease X-linked recessive 5 | |
| DOID:0111260 | phosphoribosylpyrophosphate synthetase superactivity | |
| DOID:0111739 | X-linked deafness 1 | |
| DOID:10584 | retinitis pigmentosa | |
| DOID:13189 | gout |
| HPO ID | HPO Term |
|---|---|
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000083 | Renal insufficiency |
| HP:0000154 | Wide mouth |
| HP:0000218 | High palate |
| HP:0000268 | Dolichocephaly |
| HP:0000286 | Epicanthus |
| HP:0000316 | Hypertelorism |
| HP:0000325 | Triangular face |
| HP:0000365 | Hearing impairment |
| Disease ID | Disease Name |
|---|---|
| OMIM:311070 |
|
| OMIM:304500 |
|
| OMIM:300661 |
|
| ORPHA:99014 |
|
| ORPHA:411543 |
|
| ORPHA:411536 |
|
| ORPHA:1187 |
|
| OMIM:301835 |
|
| ORPHA:423479 |
|
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 5631 | Xenbase:XB-GENE-1008569 | ||
| 5634 | SGD:S000000164 | ||
| 19139 | Xenbase:XB-GENE-1008569 | MOUSE65845 | |
| 29562 | RATNO35265 | ||
| 110639 | SGD:S000001003 | ||
| 140620 | DANRE35525 | ||
| 221823 | Xenbase:XB-GENE-1008569 | ||
| 314140 | RATNO35265 | ||
| 328099 | MOUSE07952 | ||
| 465800 | PANTR46546 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: December 8, 2025