HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase)

2010-08-01  

Identity

HGNC
HMGCR
LOCATION
5q13.3
LOCUSID
3156
ALIAS
LDLCQ3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3156
MIM: 142910
HGNC: 5006
Ensembl: ENSG00000113161

Variants:

dbSNP: 3156
ClinVar: 3156
TCGA: ENSG00000113161
COSMIC: HMGCR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113161ENST00000287936P04035
ENSG00000113161ENST00000287936A0A024RAP2
ENSG00000113161ENST00000343975P04035
ENSG00000113161ENST00000442032C9JKX7
ENSG00000113161ENST00000507942D6RIW0
ENSG00000113161ENST00000509085H0Y8K6
ENSG00000113161ENST00000511206P04035
ENSG00000113161ENST00000511206A0A024RAP2
ENSG00000113161ENST00000511986H0Y8F6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Terpenoid backbone biosynthesisKEGGko00900
Terpenoid backbone biosynthesisKEGGhsa00900
Metabolic pathwaysKEGGhsa01100
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
C5 isoprenoid biosynthesis, mevalonate pathwayKEGGhsa_M00095
C5 isoprenoid biosynthesis, mevalonate pathwayKEGGM00095
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781
Cholesterol biosynthesisREACTOMER-HSA-191273
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Activation of gene expression by SREBF (SREBP)REACTOMER-HSA-2426168

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133950441hmg coa reductase inhibitorsChemicalClinicalAnnotation, PathwayassociatedPD15199031, 16103896, 17563401, 18261733, 18332269, 18815589, 20403997
PA33744PRKAA1GenePathwayassociated22722338
PA33745PRKAA2GenePathwayassociated22722338
PA33746PRKAB1GenePathwayassociated22722338
PA33747PRKAB2GenePathwayassociated22722338
PA33751PRKAG1GenePathwayassociated22722338
PA33752PRKAG2GenePathwayassociated22722338
PA33753PRKAG3GenePathwayassociated22722338
PA443635Cardiovascular DiseasesDiseaseClinicalAnnotationassociated
PA443756Colonic NeoplasmsDiseaseClinicalAnnotationassociatedPD20403997
PA444516HypercholesterolemiaDiseaseClinicalAnnotationassociatedPD20031582, 26408409
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD15199031, 16103896, 17563401, 18261733, 18332269, 18815589, 20031582, 26408409
PA449688fluvastatinChemicalClinicalAnnotationassociatedPD15199031, 16103896, 17563401, 18261733, 18332269, 18815589
PA450272lovastatinChemicalClinicalAnnotationassociatedPD15199031, 16103896, 17563401, 18261733, 18332269, 18815589
PA451089pravastatinChemicalClinicalAnnotationassociatedPD15199031, 16103896, 17563401, 18261733, 18332269, 18815589
PA451363simvastatinChemicalClinicalAnnotationassociatedPD15199031, 16103896, 17563401, 18261733, 18332269, 18815589

References

Pubmed IDYearTitleCitations
382338302024Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease.0
383974812024Peroxisomal Localization of a Truncated HMG-CoA Reductase under Low Cholesterol Conditions.1
382338302024Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease.0
383974812024Peroxisomal Localization of a Truncated HMG-CoA Reductase under Low Cholesterol Conditions.1
332976052023Early growth response 1 promoted the invasion of glioblastoma multiforme by elevating HMGB1.6
354707842023Effect of pH on structural dynamics of HMG-CoA reductase and binding affinity to β-sitosterol.3
367457992023Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.3
373556342023HMGCR gene polymorphism is associated with residual cholesterol risk in premature triple-vessel disease patients treated with moderate-intensity statins.1
378337392023Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents.1
332976052023Early growth response 1 promoted the invasion of glioblastoma multiforme by elevating HMGB1.6
354707842023Effect of pH on structural dynamics of HMG-CoA reductase and binding affinity to β-sitosterol.3
367457992023Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.3
373556342023HMGCR gene polymorphism is associated with residual cholesterol risk in premature triple-vessel disease patients treated with moderate-intensity statins.1
378337392023Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents.1
348061442022Association of 3-hydroxy-3-methylglutaryl-coenzyme A reductase gene polymorphism with obesity and lipid metabolism in children and adolescents with autism spectrum disorder.3

Citation

Dessen P

HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51597