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:0011462 | Young adult onset |
HP:0011507 | Macular flecks |
HP:0012444 | Brain atrophy |
HP:0012733 | Macule |
HP:0012736 | Profound global developmental delay |
HP:0100022 | Abnormality of movement |
HP:0200034 | Papule |
Disease ID | Disease Name |
---|---|
ORPHA:1955 |
|
OMIM:133190 |
|
OMIM:614457 |
|
OMIM:600110 |
|
ORPHA:827 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115566768 | SPAAU59875 | ||
108717990 | Xenbase:XB-GENE-6486190 | ||
121393919 | Xenbase:XB-GENE-17332749 | ||
101732387 | Xenbase:XB-GENE-5892987 | ||
101945122 | CHRPI34630 | ||
109311815 | CROPO09975 | ||
116240605 | PHACC00267 | ||
100081381 | ORNAN10577 | ||
100396385 | CALJA30685 | ||
105588064 | CERAT26786 |
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Last updated: August 19, 2024