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:11661 | blue color blindness | |
DOID:11771 | spontaneous ocular nystagmus | |
DOID:11832 | visual epilepsy | |
DOID:11847 | coronary thrombosis | |
DOID:12697 | locked-in syndrome | |
DOID:12835 | quadriplegia | |
DOID:1289 | neurodegenerative disease | |
DOID:13072 | acquired hyperkeratosis | |
DOID:13174 | dissociated nystagmus | |
DOID:13399 | color blindness |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000230 | Gingivitis |
HP:0000252 | Microcephaly |
HP:0000324 | Facial asymmetry |
HP:0000486 | Strabismus |
HP:0000493 | Abnormal foveal morphology |
HP:0000505 | Visual impairment |
HP:0000551 | Color vision defect |
Disease ID | Disease Name |
---|---|
ORPHA:1955 |
|
OMIM:133190 |
|
OMIM:614457 |
|
OMIM:600110 |
|
ORPHA:827 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
105023511 | ESOLU46997 | ||
106564638 | SALSA02875 | ||
106597646 | SALSA02875 | ||
115187953 | SALTR47403 | ||
115553629 | GADMO02970 | ||
103478339 | POERE11083 | ||
102220842 | XIPMA26089 | ||
100711736 | ORENI06931 | ||
102293633 | HAPBU26764 | ||
113031430 | ASTCA03140 |
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Last updated: August 19, 2024