| Gene Symbol | LSS |
| Entrez ID | 4047 |
| Uniprot ID | P48449 |
| Description | lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) |
| Chromosomal Location | chr21: 46,188,141-46,228,824 |
| Ontology | GO ID | GO Term | Definition | Evidence |
|---|---|---|---|---|
|
BP |
GO:0006694 |
steroid biosynthetic process |
The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. |
IMP |
|
BP |
GO:0006695 |
cholesterol biosynthetic process |
The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
IMP|TAS |
|
BP |
GO:0031647 |
regulation of protein stability |
Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation. |
IMP |
|
CC |
GO:0005789 |
endoplasmic reticulum membrane |
The lipid bilayer surrounding the endoplasmic reticulum. |
TAS |
|
CC |
GO:0005811 |
lipid particle |
An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins. |
IDA |
|
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
|
MF |
GO:0000250 |
lanosterol synthase activity |
Catalysis of the reaction: (S)-2,3-epoxysqualene = lanosterol. This is a cyclization reaction that forms the sterol nucleus. |
IGI|IMP|TAS |
| Domain ID | Description |
|---|---|
|
IPR002365 |
Terpene synthase, conserved site |
|
IPR008930 |
Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid |
|
IPR018333 |
Squalene cyclase |
|
IPR032696 |
Squalene cyclase, C-terminal |
|
IPR032697 |
Squalene cyclase, N-terminal |
| Pathway ID | Pathway Term | Pathway Source |
|---|---|---|
|
hsa00100 |
Steroid biosynthesis |
KEGG |
|
hsa01100 |
Metabolic pathways |
KEGG |
|
WP1982 |
Sterol Regulatory Element-Binding Proteins (SREBP) signalling |
WikiPathways |
|
WP197 |
Cholesterol Biosynthesis |
WikiPathways |
| UMLS CUI | UMLS Term |
|---|---|
|
C0023794 |
Lipoidosis |
| Tissue | Cell Type |
|---|---|
|
adrenal gland |
glandular cells |
|
appendix |
glandular cells |
|
bronchus |
respiratory epithelial cells |
|
colon |
endothelial cells |
|
colon |
glandular cells |
|
colon |
peripheral nerve/ganglion |
|
duodenum |
glandular cells |
|
esophagus |
squamous epithelial cells |
|
gallbladder |
glandular cells |
|
kidney |
cells in tubules |
|
liver |
hepatocytes |
|
lung |
macrophages |
|
nasopharynx |
respiratory epithelial cells |
|
oral mucosa |
squamous epithelial cells |
|
ovary |
follicle cells |
|
parathyroid gland |
glandular cells |
|
placenta |
trophoblastic cells |
|
rectum |
glandular cells |
|
stomach |
glandular cells |
|
testis |
Leydig cells |
|
tonsil |
squamous epithelial cells |
|
urinary bladder |
urothelial cells |
| Pubmed ID | Author | Year | Title |
|---|---|---|---|
|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
| Gene Symbol | Entrez ID | Uniprot ID | Score |
|---|---|---|---|
|
NR4A1 |
3164 |
P22736 |
0.63 |
|
ATP4A |
495 |
P20648 |
0.63 |
|
NEDD8 |
4738 |
Q15843 |
0.63 |
|
NTRK1 |
4914 |
P04629 |
0.63 |
|
SUMO1 |
7341 |
P63165 |
0.63 |
|
XPO1 |
7514 |
O14980 |
0.63 |
|
PNKD |
25953 |
Q8N490 |
0.63 |
|
MYH9 |
4627 |
P35579 |
0.72 |
|
MYO5C |
55930 |
Q9NQX4 |
0.72 |
|
FIP1L1 |
81608 |
Q6UN15 |
0.72 |