Gene Symbol | HMGCS1 |
Entrez ID | 3157 |
Uniprot ID | Q01581 |
Description | 3-hydroxy-3-methylglutaryl-CoA synthase 1 |
Chromosomal Location | chr5: 43,289,395-43,313,512 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0001889 |
liver development |
The process whose specific outcome is the progression of the liver over time, from its formation to the mature structure. The liver is an exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes. |
IEA |
BP |
GO:0006629 |
lipid metabolic process |
The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
NAS |
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. |
TAS |
BP |
GO:0007420 |
brain development |
The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
IEA |
BP |
GO:0008299 |
isoprenoid biosynthetic process |
The chemical reactions and pathways resulting in the formation of any isoprenoid compound, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues. |
IEA |
BP |
GO:0008584 |
male gonad development |
The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
IEA |
BP |
GO:0009645 |
response to low light intensity stimulus |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a low light intensity stimulus. Low light intensity is defined as a level of electromagnetic radiation at or below 0.1 micromols/m2. |
IEA |
BP |
GO:0014074 |
response to purine-containing compound |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a purine-containing compound stimulus. |
IEA |
BP |
GO:0033197 |
response to vitamin E |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin E stimulus. |
IEA |
BP |
GO:0042493 |
response to drug |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. |
IEA |
BP |
GO:0046690 |
response to tellurium ion |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tellurium ion stimulus. |
IEA |
BP |
GO:0055094 |
response to lipoprotein particle |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipoprotein particle stimulus. |
IEA |
BP |
GO:0071372 |
cellular response to follicle-stimulating hormone stimulus |
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a follicle-stimulating hormone stimulus. |
IEA |
BP |
GO:0071397 |
cellular response to cholesterol |
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholesterol stimulus. |
IEA |
CC |
GO:0005634 |
nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
IDA |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
IDA |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IDA |
CC |
GO:0005829 |
cytosol |
The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
TAS |
CC |
GO:0005886 |
plasma membrane |
The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
IDA |
MF |
GO:0004421 |
hydroxymethylglutaryl-CoA synthase activity |
Catalysis of the reaction: acetoacetyl-CoA + acetyl-CoA + H(2)O = (S)-3-hydroxy-3-methylglutaryl-CoA + CoA + H(+). |
TAS |
MF |
GO:0008144 |
drug binding |
Interacting selectively and non-covalently with a drug, any naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism; in particular, any such substance used in the diagnosis, prevention, or treatment of disease. |
IEA |
MF |
GO:0016853 |
isomerase activity |
Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. |
IEA |
MF |
GO:0042803 |
protein homodimerization activity |
Interacting selectively and non-covalently with an identical protein to form a homodimer. |
IEA |
MF |
GO:0043177 |
organic acid binding |
Interacting selectively and non-covalently with an organic acid, any acidic compound containing carbon in covalent linkage. |
IEA |
Domain ID | Description |
---|---|
IPR000590 |
Hydroxymethylglutaryl-coenzyme A synthase, active site |
IPR010122 |
Hydroxymethylglutaryl-CoA synthase, eukaryotic |
IPR013528 |
Hydroxymethylglutaryl-coenzyme A synthase, N-terminal |
IPR013746 |
Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain |
IPR016039 |
Thiolase-like |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa00072 |
Synthesis and degradation of ketone bodies |
KEGG |
hsa00280 |
Valine, leucine and isoleucine degradation |
KEGG |
hsa00650 |
Butanoate metabolism |
KEGG |
hsa00900 |
Terpenoid backbone biosynthesis |
KEGG |
hsa01100 |
Metabolic pathways |
KEGG |
WP1982 |
Sterol Regulatory Element-Binding Proteins (SREBP) signalling |
WikiPathways |
WP197 |
Cholesterol Biosynthesis |
WikiPathways |
WP474 |
Endochondral Ossification |
WikiPathways |
WP2011 |
SREBF and miR33 in cholesterol and lipid homeostasis |
WikiPathways |
h_s1pPathway |
SREBP control of lipid synthesis, |
BioCarta |
Tissue | Cell Type |
---|---|
appendix |
glandular cells |
colon |
glandular cells |
duodenum |
glandular cells |
esophagus |
squamous epithelial cells |
liver |
hepatocytes |
rectum |
glandular cells |
small intestine |
glandular cells |
stomach |
glandular cells |
testis |
Leydig 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 |
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
DARS |
1615 |
P14868 |
0.49 |
IARS |
3376 |
P41252 |
0.49 |
IMPDH1 |
3614 |
P20839 |
0.49 |
KARS |
3735 |
Q15046 |
0.49 |
MVD |
4597 |
P53602 |
0.49 |
NEDD8 |
4738 |
Q15843 |
0.49 |
PFN2 |
5217 |
P35080 |
0.49 |
MAPK9 |
5601 |
P45984 |
0.49 |
RAD23B |
5887 |
P54727 |
0.49 |
SCP2 |
6342 |
P22307 |
0.49 |
XPNPEP1 |
7511 |
Q9NQW7 |
0.49 |
PEG10 |
23089 |
Q86TG7 |
0.49 |
NMD3 |
51068 |
Q96D46 |
0.49 |
SPG21 |
51324 |
Q9NZD8 |
0.49 |
UFM1 |
51569 |
P61960 |
0.49 |
SPDL1 |
54908 |
Q96EA4 |
0.49 |
ATP6V1E1 |
529 |
P36543 |
0.56 |
PPP2CB |
5516 |
P62714 |
0.56 |
CLN5 |
1203 |
O75503 |
0.63 |
NFYA |
4800 |
P23511 |
0.63 |
SERPINB5 |
5268 |
P36952 |
0.63 |
CDK5R1 |
8851 |
Q15078 |
0.63 |
IKBKE |
9641 |
Q14164 |
0.63 |
OR10H3 |
26532 |
O60404 |
0.63 |
MBD5 |
55777 |
Q9P267 |
0.63 |
FSD1 |
79187 |
Q9BTV5 |
0.63 |
OR5F1 |
338674 |
O95221 |
0.63 |