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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1
Summary
- UniProt ID
- B0YJ81
- Gene Symbol
-
- HACD1
- PTPLA
- Organism
- Homo sapiens (human)
External Links
- PubChem
- B0YJ81
- SwissLipids
- The Human Metabolome Database
- HMDBP11773
Annotation
- Keyword
-
- Alternative splicing
- Developmental protein
- Disease variant
- Endoplasmic reticulum
- Fatty acid biosynthesis
- Glycoprotein
- Lyase
- Phosphoprotein
- Reference proteome
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| GO Term |
|---|
| enzyme binding |
| hydroxyapatite binding |
| 3-hydroxyacyl-CoA dehydratase activity |
| very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activity |
Sequence
MGRLTEAAAAGSGSRAAGWAGSPPTLLPLSPTSPRCAATMASSDEDGTNGGASEAGEDREAPGERRRLGVLATAWLTFYDIAMTAGWLVLAIAMVRFYMEKGTHRGLYKSIQKTLKFFQTFALLEIVHCLIGIVPTSVIVTGVQVSSRIFMVWLITHSIKPIQNEESVVLFLVAWTVTEITRYSFYTFSLLDHLPYFIKWARYNFFIILYPVGVAGELLTIYAALPHVKKTGMFSIRLPNKYNVSFDYYYFLLITMASYIPLFPQLYFHMLRQRRKVLHGEVIVEKDD
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 243 | N-linked (GlcNAc...) asparagine |
|
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:0060284 | paroxysmal nocturnal hemoglobinuria | |
| DOID:0060486 | Perry syndrome | |
| DOID:0080102 | congenital myopathy 4A | |
| DOID:0090103 | Huntington's disease-like 1 | |
| DOID:0090104 | Huntington's disease-like 2 | |
| DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
| DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
| DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A | |
| DOID:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B | |
| DOID:0110277 | autosomal recessive limb-girdle muscular dystrophy type 2C |
