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:2452 | thrombophilia | |
DOID:2481 | obsolete infantile epileptic encephalopathy | |
DOID:2723 | dermatitis | |
DOID:2725 | capillary hemangioma | |
DOID:2732 | Rothmund-Thomson syndrome | |
DOID:2786 | cerebellar disease | |
DOID:3144 | cutis laxa | |
DOID:3390 | palmoplantar keratosis | |
DOID:3755 | antithrombin III deficiency | |
DOID:3756 | protein C 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 |
---|---|---|---|
115555643 | GADMO06331 | ||
101156806 | ORYLA12802 | ||
115590882 | SPAAU67055 | ||
379123 | Xenbase:XB-GENE-985517 | ||
108698470 | Xenbase:XB-GENE-17336642 | ||
779994 | Xenbase:XB-GENE-985511 | ||
101937467 | CHRPI35265 | ||
109322191 | CROPO11601 | ||
113435832 | PSETE06889 | ||
100409457 | CALJA28361 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024