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:10629 | microphthalmia | |
DOID:11252 | microcytic anemia | |
DOID:11541 | recurrent corneal erosion | |
DOID:11634 | myxedema | |
DOID:11771 | spontaneous ocular nystagmus | |
DOID:11832 | visual epilepsy | |
DOID:11949 | Creutzfeldt-Jakob disease | |
DOID:12270 | coloboma | |
DOID:12849 | autistic disorder | |
DOID:13072 | acquired hyperkeratosis |
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 |
---|---|---|---|
105591982 | CERAT35365 | ||
102135568 | MACFA34126 | ||
696381 | MACMU36210 | ||
105463533 | MACNE07392 | ||
101018670 | PAPAN26895 | ||
101127484 | GORGO30693 | ||
100987485 | PANPA30475 | ||
471241 | PANTR33958 | ||
100461714 | PONAB27944 | ||
123804043 | URSAM14626 |
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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