UniProt | Protein Name |
---|---|
Q9GZR5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
fatty acid elongation, polyunsaturated fatty acid | ||
fatty acid biosynthetic process |
|
|
sphingolipid biosynthetic process | ||
long-chain fatty-acyl-CoA biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane |
GO Term | Evidence Code | PMID |
---|---|---|
G protein-coupled photoreceptor activity |
|
|
protein binding | ||
fatty acid elongase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:13912 | acquired color blindness | |
DOID:1432 | blindness | |
DOID:0050467 | erythrokeratodermia variabilis | |
DOID:0050534 | congenital stationary night blindness | |
DOID:0050572 | cone-rod dystrophy | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050753 | cerebellar ataxia | |
DOID:1441 | autosomal dominant cerebellar ataxia | |
DOID:14501 | Sjogren-Larsson syndrome | |
DOID:0050817 | Stargardt disease |
HPO ID | HPO Term |
---|---|
HP:0002123 | Generalized myoclonic seizure |
HP:0002167 | Abnormality of speech or vocalization |
HP:0002187 | Intellectual disability, profound |
HP:0002188 | Delayed CNS myelination |
HP:0002380 | Fasciculations |
HP:0002509 | Limb hypertonia |
HP:0002510 | Spastic tetraplegia |
HP:0002977 | Aplasia/Hypoplasia involving the central nervous system |
HP:0003011 | Abnormality of the musculature |
HP:0003477 | Peripheral axonal neuropathy |
Disease ID | Disease Name |
---|---|
ORPHA:1955 |
|
OMIM:133190 |
|
OMIM:614457 |
|
OMIM:600110 |
|
ORPHA:827 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
109098404 | CYPCA58415 | ||
103729172 | NANGA21985 | ||
116442178 | CORMO19188 | ||
115609845 | STRHB17005 | ||
108309868 | CEBIM15378 |
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Last updated: August 19, 2024