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:0000603 | Central scotoma |
HP:0000605 | Supranuclear gaze palsy |
HP:0000608 | Macular degeneration |
HP:0000610 | Abnormal choroid morphology |
HP:0000613 | Photophobia |
HP:0000639 | Nystagmus |
HP:0000649 | Abnormality of visual evoked potentials |
HP:0000662 | Nyctalopia |
HP:0000958 | Dry skin |
HP:0000962 | Hyperkeratosis |
Disease ID | Disease Name |
---|---|
ORPHA:1955 |
|
OMIM:133190 |
|
OMIM:614457 |
|
OMIM:600110 |
|
ORPHA:827 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102138130 | MACFA31810 | ||
692070 | MACMU34415 | ||
105495556 | MACNE27594 | ||
101000813 | PAPAN34710 | ||
105531402 | MANLE33452 | ||
101129175 | GORGO37558 | ||
100968249 | PANPA34784 | ||
100440564 | PONAB32115 | ||
481894 | CANLF02938 | ||
112926381 | VULVU20688 |
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Last updated: August 19, 2024