Protein Description

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

No diseases found.

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

No databases found.

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