UniProt | Protein Name |
---|---|
Q9H8P0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
androgen biosynthetic process |
|
|
dolichol metabolic process | ||
polyprenol catabolic process | ||
dolichol-linked oligosaccharide biosynthetic process | ||
dolichol biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | ||
polyprenol reductase activity | ||
3-oxo-5-alpha-steroid 4-dehydrogenase activity | ||
3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) |
DO ID | Disease Name | Source |
---|---|---|
DOID:13174 | dissociated nystagmus | |
DOID:13515 | tuberous sclerosis | |
DOID:1432 | blindness | |
DOID:14323 | Marfan syndrome | |
DOID:1459 | hypothyroidism | |
DOID:1686 | glaucoma | |
DOID:1697 | ichthyosis | |
DOID:1826 | epilepsy | |
DOID:2340 | craniosynostosis | |
DOID:2451 | protein S deficiency |
HPO ID | HPO Term |
---|---|
HP:0000962 | Hyperkeratosis |
HP:0000964 | Eczematoid dermatitis |
HP:0000973 | Cutis laxa |
HP:0000982 | Palmoplantar keratoderma |
HP:0000998 | Hypertrichosis |
HP:0001000 | Abnormality of skin pigmentation |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
Disease ID | Disease Name |
---|---|
OMIM:612379 |
|
ORPHA:324737 |
|
OMIM:612713 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
57357 | MGI:1930252 | MOUSE44181 | |
305291 | RGD:1308828 | RATNO07769 | |
100727041 | CAVPO11340 | ||
101565973 | OCTDE04394 | ||
100017228 | MONDO27291 | ||
100551938 | ANOCA07540 | ||
114023872 | VOMUR02575 | ||
113894297 | BOBOX04409 | ||
100962186 | OTOGA08016 | ||
105709293 | AOTNA14290 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024