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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Very long chain fatty acid elongase 4
Summary
- UniProt ID
- Q9GZR5
- Gene Symbol
-
- ELOVL4
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q9GZR5
- PubChem
- Q9GZR5
- SwissLipids
- The Human Metabolome Database
- HMDBP04479
- The O-GlcNAc Database
- Q9GZR5
- O-GlcNAcAtlas
- Q9GZR5
Annotation
- Keyword
-
- Disease variant
- Endoplasmic reticulum
- Fatty acid biosynthesis
- Glycoprotein
- Ichthyosis
- Intellectual disability
- Reference proteome
- Spinocerebellar ataxia
- Stargardt disease
- Transferase
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| GO Term |
|---|
| G protein-coupled photoreceptor activity |
| fatty acid elongase activity |
Sequence
MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFVWLGPKWMKDREPFQMRLVLIIYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVHEVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVYHHCTMFTLWWIGIKWVAGGQAFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTDCPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMIENGKKQKNGKAKGD
Glycosylation Sites
G80920RR
G62765YT
G31852PQ
G41247ZX
G02815KT
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Synthesis of very long-chain fatty acyl-CoAs | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0111005 | cone-rod dystrophy 2 | |
| 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:0050817 | Stargardt disease | |
| DOID:0050981 | spinocerebellar ataxia type 34 | |
| DOID:0060319 | cardiac arrest | |
| DOID:0060320 | inguinal hernia |
