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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Lanosterol synthase
Summary
- UniProt ID
- P48449
- Gene Symbol
-
- LSS
- OSC
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- P48449
- PubChem
- P48449
- SwissLipids
- The Human Metabolome Database
- HMDBP00430
- The O-GlcNAc Database
- P48449
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Cataract
- Direct protein sequencing
- Disease variant
- Endoplasmic reticulum
- Hypotrichosis
- Intellectual disability
- Isomerase
- Membrane
- Reference proteome
- Repeat
- Steroid biosynthesis
- Gene Ontology (GO)
| GO Term |
|---|
| endoplasmic reticulum membrane |
| lipid droplet |
| membrane |
| GO Term |
|---|
| lanosterol synthase activity |
Sequence
MTEGTCLRRRGGPYKTEPATDLGRWRLNCERGRQTWTYLQDERAGREQTGLEAYALGLDTKNYFKDLPKAHTAFEGALNGMTFYVGLQAEDGHWTGDYGGPLFLLPGLLITCHVARIPLPAGYREEIVRYLRSVQLPDGGWGLHIEDKSTVFGTALNYVSLRILGVGPDDPDLVRARNILHKKGGAVAIPSWGKFWLAVLNVYSWEGLNTLFPEMWLFPDWAPAHPSTLWCHCRQVYLPMSYCYAVRLSAAEDPLVQSLRQELYVEDFASIDWLAQRNNVAPDELYTPHSWLLRVVYALLNLYEHHHSAHLRQRAVQKLYEHIVADDRFTKSISIGPISKTINMLVRWYVDGPASTAFQEHVSRIPDYLWMGLDGMKMQGTNGSQIWDTAFAIQALLEAGGHHRPEFSSCLQKAHEFLRLSQVPDNPPDYQKYYRQMRKGGFSFSTLDCGWIVSDCTAEALKAVLLLQEKCPHVTEHIPRERLCDAVAVLLNMRNPDGGFATYETKRGGHLLELLNPSEVFGDIMIDYTYVECTSAVMQALKYFHKRFPEHRAAEIRETLTQGLEFCRRQQRADGSWEGSWGVCFTYGTWFGLEAFACMGQTYRDGTACAEVSRACDFLLSRQMADGGWGEDFESCEERRYLQSAQSQIHNTCWAMMGLMAVRHPDIEAQERGVRCLLEKQLPNGDWPQENIAGVFNKSCAISYTSYRNIFPIWALGRFSQLYPERALAGHP
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Activation of gene expression by SREBF (SREBP) | Homo sapiens |
| Cholesterol biosynthesis | 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:0060703 | Muenke Syndrome | |
| DOID:0060887 | ossification of the posterior longitudinal ligament of spine | |
| DOID:0080144 | childhood acute lymphocytic leukemia | |
| DOID:0080582 | hypotrichosis 14 | |
| DOID:0090001 | Fraser syndrome | |
| DOID:0110227 | cataract 32 multiple types | |
| DOID:0110228 | cataract 8 multiple types | |
| DOID:0110229 | cataract 6 multiple types | |
| DOID:0110230 | cataract 34 multiple types | |
| DOID:0110231 | cataract 1 multiple types |
