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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
Summary
- UniProt ID
- Q15125
- Gene Symbol
-
- EBP
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Cataract
- Cholesterol biosynthesis
- Cytoplasmic vesicle
- Disease variant
- Dwarfism
- Endoplasmic reticulum
- Ichthyosis
- Isomerase
- Nucleus
- Reference proteome
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| nuclear envelope |
| cytoplasmic vesicle |
| nuclear membrane |
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| GO Term |
|---|
| identical protein binding |
| cholestenol delta-isomerase activity |
| C-8 sterol isomerase activity |
| steroid delta-isomerase activity |
Sequence
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN
Glycosylation Sites
G57321FI
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Bloch pathway | Homo sapiens |
| Kandutsch-Russell pathway | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:1307 | dementia | |
| DOID:0050387 | nonpapillary renal cell carcinoma | |
| DOID:0050865 | tongue squamous cell carcinoma | |
| DOID:0050908 | myelodysplastic syndrome | |
| DOID:0060215 | Balo concentric sclerosis | |
| DOID:0060249 | scoliosis | |
| DOID:0060260 | ptosis | |
| DOID:0060261 | congenital ptosis | |
| DOID:0060287 | cornea plana | |
| DOID:0060292 | X-linked chondrodysplasia punctata 1 |
