GO Term | Evidence Code | PMID |
---|---|---|
CDP-choline pathway | ||
phosphatidylcholine biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
glycogen granule | ||
nuclear envelope | ||
endoplasmic reticulum | ||
cytosol |
GO Term | Evidence Code | PMID |
---|---|---|
choline-phosphate cytidylyltransferase activity | ||
protein homodimerization activity | ||
molecular function inhibitor activity | ||
phosphatidylcholine binding | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110460 | dilated cardiomyopathy 2A | |
DOID:0110461 | X-linked dilated cardiomyopathy | |
DOID:0110870 | congenital stationary night blindness 1A | |
DOID:0111135 | congenital generalized lipodystrophy type 1 | |
DOID:0111136 | congenital generalized lipodystrophy type 2 | |
DOID:0111137 | congenital generalized lipodystrophy type 3 | |
DOID:0111138 | congenital generalized lipodystrophy type 4 | |
DOID:0111151 | Prinzmetal angina | |
DOID:0112300 | spondylometaphyseal dysplasia with cone-rod dystrophy | |
DOID:10003 | sensorineural hearing loss |
HPO ID | HPO Term |
---|---|
HP:0004374 | Hemiplegia/hemiparesis |
HP:0004565 | Severe platyspondyly |
HP:0005054 | Metaphyseal spurs |
HP:0005930 | Abnormal epiphysis morphology |
HP:0006487 | Bowing of the long bones |
HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis |
HP:0007401 | Macular atrophy |
HP:0007663 | Reduced visual acuity |
HP:0007688 | Undetectable light- and dark-adapted electroretinogram |
HP:0007703 | Abnormality of retinal pigmentation |
Disease ID | Disease Name |
---|---|
ORPHA:65 |
|
ORPHA:85167 |
|
OMIM:608940 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113483310 | ATHCN11435 | ||
105808100 | PROCO00885 | ||
853116 | SGD:S000003434 | ||
109065111 | CYPCA69525 | ||
109101880 | CYPCA40526 | ||
103738517 | NANGA17719 | ||
116448767 | CORMO00556 | ||
115612331 | STRHB11759 |
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
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024