Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
1.14.14.79
Oxidoreductases;
Acting on paired donors, with incorporation or reduction of molecular oxygen;
With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen into the other donor;
docosahexaenoic acid ω-hydroxylase
1.14.14.80
Oxidoreductases;
Acting on paired donors, with incorporation or reduction of molecular oxygen;
With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen into the other donor;
long-chain fatty acid ω-monooxygenase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0010430 | fatty acid omega-oxidation |
| Biological Process | GO:0050896 | response to stimulus |
| Biological Process | GO:0001523 | retinoid metabolic process |
| Biological Process | GO:0016125 | sterol metabolic process |
| Biological Process | GO:0007601 | visual perception |
| Molecular Function | GO:0020037 | heme binding |
| Molecular Function | GO:0005506 | iron ion binding |
| Molecular Function | GO:0102033 | long-chain fatty acid omega-hydroxylase activity |
| Molecular Function | GO:0004497 | monooxygenase activity |
| Cellular Component | GO:0005789 | endoplasmic reticulum membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-211976 | Endogenous sterols | Internal node | R-HSA-1430728 | Metabolism |
| R-HSA-2453902 | The canonical retinoid cycle in rods (twilight vision) | Internal node | R-HSA-9709957 | Sensory Perception |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Endoplasmic reticulum membrane | ECO:0000269 | PubMed:22772592 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000505 | Visual impairment |
| HP:0000529 | Progressive visual loss |
| HP:0000531 | Corneal crystals |
| HP:0000533 | Chorioretinal atrophy |
| HP:0000546 | Retinal degeneration |
| HP:0000551 | Color vision defect |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000603 | Central scotoma |
| HP:0000618 | Blindness |
| HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude |
| HP:0000662 | Nyctalopia |
| HP:0001129 | Large central visual field defect |
| HP:0001133 | Constriction of peripheral visual field |
| HP:0001141 | Severely reduced visual acuity |
| HP:0007663 | Reduced visual acuity |
| HP:0007675 | Progressive night blindness |
| HP:0007722 | Retinal pigment epithelial atrophy |
| HP:0007760 | Crystalline corneal dystrophy |
| HP:0007814 | Retinal pigment epithelial mottling |
| HP:0007880 | Marginal corneal dystrophy |
| HP:0011003 | High myopia |
| HP:0011505 | Cystoid macular edema |
| HP:0030329 | Retinal thinning |
| HP:0030491 | Choriocapillaris atrophy |
| HP:0030528 | Paracentral scotoma |
| HP:0031528 | Subretinal deposits |
| HP:0200065 | Chorioretinal degeneration |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | Low | Approved |
| bone marrow | hematopoietic cells | Low | Approved |
| breast | glandular cells | Low | Approved |
| breast | myoepithelial cells | Low | Approved |
| bronchus | respiratory epithelial cells | Low | Approved |
| cerebral cortex | neuropil | Low | Approved |
| colon | peripheral nerve/ganglion | Low | Approved |
| duodenum | glandular cells | Medium | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | Low | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | neuronal cells | Low | Approved |
| kidney | cells in tubules | Low | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | macrophages | Low | Approved |
| nasopharynx | respiratory epithelial cells | Low | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Low | Approved |
| placenta | decidual cells | Low | Approved |
| placenta | trophoblastic cells | Medium | Approved |
| rectum | glandular cells | Low | Approved |
| seminal vesicle | glandular cells | Low | Approved |
| skin 1 | fibroblasts | Medium | Approved |
| skin 1 | melanocytes | Low | Approved |
| small intestine | glandular cells | Medium | Approved |
| soft tissue 1 | fibroblasts | Low | Approved |
| soft tissue 2 | fibroblasts | Low | Approved |
| spleen | cells in red pulp | Low | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Low | Approved |
| testis | Leydig cells | Low | Approved |
| urinary bladder | urothelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| bietti crystalline corneoretinal dystrophy | MONDO:0008865 | H15 | chapter7, Diseases of the eye and adnexa | OMIM:210370 | Orphanet:41751 |
| retinitis pigmentosa | MONDO:0019200 | H35 | chapter7, Diseases of the eye and adnexa | OMIM:268000 | Orphanet:791 |
| retinitis pigmentosa | MONDO:0019200 | H35 | chapter7, Diseases of the eye and adnexa | OMIMPS:268000 | Orphanet:791 |