HMGCR - 3-hydroxy-3-methylglutaryl-CoA reductase Gene
Also Known as LDLCQ3
Species: Homo sapiens
About HMGCR
This gene has 18 transcripts (splice variants), 206 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 31.2), colon (RPKM 23.2) and 25 other tissues.
Summary
HMG-CoA reductase is the rate-limiting enzyme for Cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by Cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of Cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
HMGCR Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_001364187.1 | NP_001351116.1 | 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1 |
| XM_011543359.2 | XP_011541661.1 | 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform X3 |
| NM_001130996.2 | NP_001124468.1 | 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 2 |
| XM_011543357.2 | XP_011541659.1 | 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform X1 |
| NM_000859.3 | NP_000850.1 | 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1 |
| XM_011543358.2 | XP_011541660.1 | 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform X2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables NADPH binding |
IDA
IDA: Inferred from direct assay
|
10698924 | GOA |
| enables coenzyme A binding |
IDA
IDA: Inferred from direct assay
|
10698924 | GOA |
| enables hydroxymethylglutaryl-CoA reductase (NADPH) activity |
IDA
IDA: Inferred from direct assay
|
2991281 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
23169578 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cholesterol biosynthetic process |
IDA
IDA: Inferred from direct assay
|
23063590 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
17180682 | GOA |
| located in peroxisomal membrane |
IDA
IDA: Inferred from direct assay
|
17180682 | GOA |
HMGCR Protein Structure
Sterol-sensing: Sterol-sensing domain of SREBP cleavage-activation (87 - 224)
HMG-CoA_red: Hydroxymethylglutaryl-coenzyme A reductase (490 - 871)
- 0
- 200
- 400
- 600
- 800
- 888 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
3-hydroxy-3-methylglutaryl-Coenzyme A reductase |
|
|
HMGCR Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
HMGCR | P04035 | UBIAD1 | Homo sapiens | Q9Y5Z9 | 23169578 | |
|
Intra
|
HMGCR | P04035 | UBIAD1 | Homo sapiens | Q9Y5Z9 | 23169578 | |
|
Intra
|
HMGCR | P04035 | UBIAD1 | Homo sapiens | Q9Y5Z9-1 | 23169578 |
Recombinant HMGCR Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72228 | HMGCR Protein, Human (His) | P04035-1 (M588-T887) | ≥ 90%, as determined by reducing SDS-PAGE. |
HMGCR Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81197 | HMGCR Antibody (YA3518) | WB, IP | Human, Mouse, Rat |
| HY-P81197A | HMGCR Antibody (YA3518)(PBS only) | WB, IP | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cardiovascular System Disease |
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| Breast Cancer |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
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| Chronic Kidney Disease |
|
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| Nervous System Disease |
|
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| Lipoprotein Quantitative Trait Locus |
|
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| Stroke, Ischemic |
|
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| Hyperlipoproteinemia, Type Iii |
|
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| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
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| Hyperlipidemia, Familial Combined, 3 |
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| Multiple Sclerosis |
|
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| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
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| Antisynthetase Syndrome |
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| Orbital Plasma Cell Granuloma |
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| Type 2 Diabetes Mellitus |
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| Alzheimer Disease, Familial, 1 |
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| Creatine Phosphokinase, Elevated Serum |
|
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| Mevalonic Aciduria |
|
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| Smith-Lemli-Opitz Syndrome |
|
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| Non-Alcoholic Fatty Liver Disease |
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| Familial Hyperlipidemia |
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| Cerebrotendinous Xanthomatosis |
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| Bacteremia 2 |
|
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| Cholelithiasis |
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| Vascular Disease |
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| Peripheral Vascular Disease |
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| Cataract |
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| Familial Hypercholesterolemia |
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| Autism Spectrum Disorder |
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| Sitosterolemia |
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| Skin Disease |
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| Acute Myocardial Infarction |
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| Nephrotic Syndrome |
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| Gas Gangrene |
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| Hyperlipoproteinemia, Type V |
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| Heart Disease |
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| Osteoporosis |
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| Muscle Tissue Disease |
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| Kidney Disease |
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| Myopathy |
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| Lipid Metabolism Disorder |
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| Cerebrovascular Disease |
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| Myocardial Infarction |
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| Hypertension, Essential |
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| Childhood Type Dermatomyositis |
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| Schnyder Corneal Dystrophy |
|
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| Diabetes Mellitus |
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| Hypercholesterolemia, Familial, 1 |
|
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| Hepatoblastoma |
|
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| Xanthomatosis |
|
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| Arteriosclerosis |
|
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| Hemochromatosis, Type 1 |
|
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| Coronary Heart Disease 1 |
|
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| Atherosclerosis Susceptibility |
|
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| Adult Dermatomyositis |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | HMGCR | VGNC | VGNC:29879 |
| Macaca mulatta | HMGCR | VGNC | VGNC:73484 |
| Rattus norvegicus | HMGCR | RGD | RGD:2803 |
| Felis catus | HMGCR | VGNC | VGNC:67596 |
| Mus musculus | HMGCR | MGD | MGI:96159 |
| Canis familiaris | HMGCR | VGNC | VGNC:41714 |
| Others | HMGCR | NCBI |