GO Term | Evidence Code | PMID |
---|---|---|
ribonucleoside monophosphate biosynthetic process | ||
purine nucleotide biosynthetic process | ||
phosphorylation | ||
5-phosphoribose 1-diphosphate biosynthetic process | ||
pyrimidine nucleotide biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
ribose phosphate diphosphokinase complex |
|
|
cytoplasm | ||
cytosol |
GO Term | Evidence Code | PMID |
---|---|---|
ATP binding | ||
kinase activity | ||
protein binding | ||
identical protein binding | ||
ribose phosphate diphosphokinase activity |
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:0006579 | Prolonged neonatal jaundice |
HP:0006801 | Hyperactive deep tendon reflexes |
HP:0007178 | Motor polyneuropathy |
HP:0007258 | Severe demyelination of the white matter |
HP:0007328 | Impaired pain sensation |
HP:0007377 | Abnormality of somatosensory evoked potentials |
HP:0007965 | Undetectable visual evoked potentials |
HP:0008058 | Aplasia/Hypoplasia of the optic nerve |
HP:0008070 | Sparse hair |
HP:0008311 | Spinal cord posterior columns myelin loss |
Disease ID | Disease Name |
---|---|
OMIM:301835 |
|
OMIM:311070 |
|
ORPHA:1187 |
|
ORPHA:411536 |
|
ORPHA:411543 |
|
ORPHA:423479 |
|
OMIM:300661 |
|
ORPHA:99014 |
|
OMIM:304500 |
|
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: February 17, 2025