GO Term | Evidence Code | PMID |
---|---|---|
nervous system development | ||
5-phosphoribose 1-diphosphate biosynthetic process | ||
ribonucleoside monophosphate biosynthetic process | ||
pyrimidine nucleotide biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
ribose phosphate diphosphokinase complex |
|
|
cytosol | ||
cytoplasm |
GO Term | Evidence Code | PMID |
---|---|---|
kinase activity | ||
protein binding | ||
identical protein binding | ||
ribose phosphate diphosphokinase activity | ||
magnesium ion 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:0001511 | Intrauterine growth retardation |
HP:0001518 | Small for gestational age |
HP:0001522 | Death in infancy |
HP:0001525 | Severe failure to thrive |
HP:0001761 | Pes cavus |
HP:0001919 | Acute kidney injury |
HP:0001997 | Gout |
HP:0001999 | Abnormal facial shape |
HP:0002015 | Dysphagia |
HP:0002069 | Bilateral tonic-clonic seizure |
Disease ID | Disease Name |
---|---|
ORPHA:423479 |
|
ORPHA:99014 |
|
OMIM:304500 |
|
OMIM:311070 |
|
OMIM:300661 |
|
OMIM:301835 |
|
ORPHA:1187 |
|
ORPHA:411536 |
|
ORPHA:411543 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
472640 | 9598_0:002324 | PANTR46546 | ||
481011 | CANLF20037 | |||
560827 | ZFIN:ZDB-GENE-030131-4011 | DANRE06575 | ||
702529 | MACMU48127 | |||
781227 | BOVIN36697 | |||
852211 | SGD:S000000164 | |||
856375 | SGD:S000001003 | |||
856836 | SGD:S000000901 | |||
100014432 | MONDO01100 | |||
100054730 | HORSE44480 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024