CHOLESTEROL BIOSYNTHETIC PATHWAY (PW:0000454)

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Description

The study of cholesterol spans decades of research and has garnered several Nobel prizes. Cholesterol, a major end product of the isoprenoid biosynthetic pathway, is an essential component of cell membranes and lipid rafts and is the precursor for the synthesis of steroid hormones and bile acids. Cholesterol is derived from diet or via de novo synthesis from acetyl-CoA. The biosynthetic pathway requires some 30 reactions involving enzymes localized in the cytosol, ER membrane and po

Pathway Diagram:

Elsevier Inc. sterol regulatory element-binding protein signaling pathway ---> Hmgcr sterol regulatory element-binding protein signaling pathway ---> Hmgcs1 sterol regulatory element-binding protein signaling pathway ---> Fdft1 Fdft1 sterol regulatory element-binding protein signaling pathway Hmgcs1 Mvd Pmvk Mvk lanosterol to cholesterol enzymes Lss Sqle Fdps Idi1 mevalonate ---> mevalonate-5-P Hmgcr Acat2 mevalonate-5-P mevalonate-5-P ---> mevalonate-5-PP squalene epoxide ---> lanosterol mevalonate-5-PP ---> isopentenyl-PP lanosterol ---> cholesterol squalene epoxide squalene HMG-CoA acetoacetyl-CoA acetyl-CoA squalene ---> squalene epoxide isopentenyl-PP ---> geranyl-PP farnesyl-PP ---> squalene acetyl-CoA ---> HMG-CoA dimethylallyl-PP ---> geranyl-PP isopentenyl-PP <--> dimethylallyl-PP acetoacetyl-CoA <--> acetyl-CoA acetoacetyl-CoA ---> HMG-CoA HMG-CoA ---> mevalonate isopentenyl-PP ---> farnesyl-PP geranyl-PP ---> farnesyl-PP mevalonate mevalonate-5-PP isopentenyl-PP dimethylallyl-PP geranyl-PP farnesyl-PP lanosterol cholesterol steroid hormone biosynthetic pathway cholesterol ---> steroid hormone biosynthetic pathway
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Genes in Pathway:

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cholesterol biosynthetic pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acat2 acetyl-CoA acetyltransferase 2 JBrowse link 1 47,972,399 47,992,654 RGD:2316857
RGD:10402751
G Cyp51 cytochrome P450, family 51 JBrowse link 4 27,175,564 27,194,018 RGD:2316857
RGD:2316868
RGD:2316902
RGD:10402751
G Dhcr24 24-dehydrocholesterol reductase JBrowse link 5 126,164,708 126,188,926 RGD:2316857
RGD:2316868
RGD:10402751
G Dhcr7 7-dehydrocholesterol reductase JBrowse link 1 217,018,916 217,034,890 RGD:2316857
RGD:2316868
RGD:2316918
G Ebp emopamil binding protein (sterol isomerase) JBrowse link X 15,049,394 15,055,782 RGD:2316857
RGD:2316868
RGD:10402751
G Fdft1 farnesyl diphosphate farnesyl transferase 1 JBrowse link 15 46,339,248 46,367,302 RGD:1626611
RGD:2316857
RGD:10402751
G Fdps farnesyl diphosphate synthase JBrowse link 2 188,403,595 188,413,219 RGD:2316857
RGD:10402751
G Ggps1 geranylgeranyl diphosphate synthase 1 JBrowse link 17 53,956,185 53,971,039 RGD:10402751
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase JBrowse link 2 27,480,224 27,500,654 RGD:2316857
RGD:10402751
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 JBrowse link 2 52,427,351 52,445,082 RGD:2316857
RGD:10402751
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 JBrowse link 13 88,288,116 88,308,019 RGD:10402751
G Idi1 isopentenyl-diphosphate delta isomerase 1 JBrowse link 17 57,976,266 57,984,036 RGD:2316857
RGD:10402751
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:2316857
RGD:2316868
G Lipa lipase A, lysosomal acid type JBrowse link 1 252,816,536 252,959,348 RGD:10402751
G Lss lanosterol synthase JBrowse link 20 12,844,522 12,870,474 RGD:1626611
RGD:2316857
RGD:2316919
RGD:10402751
G Msmo1 methylsterol monooxygenase 1 JBrowse link 16 26,859,441 26,875,880 RGD:10402751
G Mvd mevalonate diphosphate decarboxylase JBrowse link 19 55,258,910 55,268,933 RGD:2316857
RGD:10402751
G Mvk mevalonate kinase JBrowse link 12 47,904,266 47,920,457 RGD:2316857
RGD:10402751
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:2316857
RGD:2316868
RGD:10402751
G Pmvk phosphomevalonate kinase JBrowse link 2 188,784,329 188,793,890 RGD:2316857
RGD:10402751
G Sc5d sterol-C5-desaturase JBrowse link 8 46,525,406 46,537,014 RGD:2316857
RGD:2316868
RGD:2316911
RGD:10402751
G Soat1 sterol O-acyltransferase 1 JBrowse link 13 74,035,258 74,077,759 RGD:10402751
G Sqle squalene epoxidase JBrowse link 7 99,609,929 99,624,803 RGD:2316857
RGD:10402751
G Tm7sf2 transmembrane 7 superfamily member 2 JBrowse link 1 221,426,017 221,430,340 RGD:10402751

Additional Elements in Pathway:

(includes Gene Groups, Small Molecules, Other Pathways..etc.)
Object TypePathway ObjectPathway Object Description
Small MoleculeHMG-CoA3-hydroxy-3-methylglutaryl-conezyme A
Small MoleculeAcetyl-CoAacetyl coenzyme A
Small MoleculeDMAPPdimethylallyl pyrophosphate
Small MoleculeFPPfarnesyl pyrophosphate
Small MoleculeGPPgeranyl pyrophosphate
Small MoleculeIPPisopentenyl pyrophosphate
Small MoleculeMevalonate-PPmevalonate pyrophosphate
Gene Grouplanosterol to cholesterol enzymesThe conversion of lanosterol to cholesterol in the cholesterol biosynthetic pathway requires several reaction and enzyme types in some 19 reaction steps

Pathway Gene Annotations

Disease Annotations Associated with Genes in the cholesterol biosynthetic pathway
Disease TermsGene Symbols
16Q24.3 Microdeletion SyndromeMvd
AcheiropodiaLss
Acute Kidney InjuryHmgcr
Acute Lung InjuryHmgcr
Alzheimer DiseaseDhcr24 , Hmgcr
Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasiaLbr
Angina, UnstableHmgcr
ArteriosclerosisAcat2
ArthralgiaMvk
Arthritis, ExperimentalHmgcr
AsthmaHmgcr
Autism Spectrum DisorderDhcr24
Autistic DisorderDhcr7
Autoimmune DiseasesHmgcr
BacteremiaHmgcr
Bone Diseases, MetabolicDhcr7
Brain InjuriesHmgcr
Carcinoma, HepatocellularFdft1 , Hmgcr , Mvk
Carcinoma, Squamous Cell of Head and NeckNsdhl
CataractFdft1
CATARACT 44Lss
CholelithiasisSqle
Cholesterol Ester Storage DiseaseLipa
Chondrodysplasia PunctataEbp
Chondrodysplasia Punctata 2, X-Linked DominantEbp
CK SyndromeNsdhl
Cocaine-Related DisordersFdft1
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb DefectsNsdhl
Coronary Artery DiseaseAcat2 , Hmgcr , Lipa
Coronary DiseaseHmgcr
Cytosolic Acetoacetyl-CoA Thiolase DeficiencyAcat2
DementiaHmgcr
DesmosterolosisDhcr24
Diabetes MellitusHmgcr
Diabetes Mellitus, ExperimentalHmgcr , Hmgcs1
Diabetes Mellitus, Type 2Hmgcr
Drug-Induced Liver Injury, ChronicHmgcr
Encephalomyelitis, Autoimmune, ExperimentalHmgcr
ExanthemaMvk
FeverMvk
GallstonesHmgcr
Greenberg DysplasiaLbr
Hearing LossNsdhl
Hepatolenticular DegenerationHmgcr
Huntington DiseaseHmgcr
HypercholesterolemiaHmgcr
Hypertension, PulmonaryHmgcr
Ichthyosiform Erythroderma, CongenitalEbp , Nsdhl
Intellectual DisabilitySc5d
Kidney Failure, ChronicHmgcr
LathosterolosisSc5d
Laurin-Sandrow SyndromeLss
Lipid Metabolism, Inborn ErrorsDhcr24 , Mvk
LipidosesLss
Liver CirrhosisDhcr7
Liver Cirrhosis, BiliaryLbr
Liver Cirrhosis, ExperimentalHmgcr , Soat1
Liver DiseasesSc5d
Liver Neoplasms, ExperimentalSqle
LymphopeniaLbr
Lysosomal Acid Lipase DeficiencyLipa
Marijuana AbuseFdft1
Metabolic Syndrome XAcat2 , Hmgcr
Methylmalonic AcidemiaMvk
Methylmalonic Aciduria cblB TypeMvk
Mevalonate Kinase DeficiencyMvk
MicrocephalyDhcr7
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITISMsmo1
Muscle HypotoniaDhcr7
Muscular DiseasesHmgcr
Neuritis, Autoimmune, ExperimentalHmgcr
Niemann-Pick Disease, Type CLipa
Non-alcoholic Fatty Liver DiseaseHmgcr
ObesityHmgcs1 , Sqle
Parkinson DiseaseHmgcr
Pelger-Huet AnomalyLbr
Phencyclidine AbuseFdft1
Polycystic Ovary SyndromeHsd17b7
Polydactyly, Preaxial IILss
PorokeratosisPmvk
Porokeratosis 9, Multiple TypesFdps
Porokeratosis, disseminated superficial actinic 1Mvk
Q FeverDhcr24 , Hmgcr , Lss
Reperfusion InjuryHmgcr
Reynolds SyndromeLbr
Smith-Lemli-Opitz SyndromeDhcr7
Spinal Cord CompressionHmgcs1
StrokeHmgcr
Surgical Wound DehiscenceHmgcr
Syndactyly, Type IVLss
UveitisHmgcr
Wolman DiseaseLipa
Pathway Annotations Associated with Genes in the cholesterol biosynthetic pathway
Pathway TermsGene Symbols
alendronate pharmacodynamics pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
bile acid biosynthetic pathwayLipa
bile acid transport pathwayHmgcr
butanoate metabolic pathwayAcat2 , Hmgcs1
cerebrotendinous xanthomatosis disease pathwayLipa
cholesterol biosynthetic pathwayAcat2 , Cyp51 , Dhcr24 , Dhcr7 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lbr , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
cholesterol ester storage disease pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
congenital bile acid synthesis defect pathwayLipa
congenital hemidysplasia with ichthyosiform erythroderma and limb defects disease pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
desmosterolosis disease pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
familial hypercholanemia disease pathwayLipa
fatty acid metabolic pathwayAcat2
forkhead class A signaling pathwayHmgcs1
glyoxylate and dicarboxylate metabolic pathwayAcat2
histone modification pathwayLbr
hypercholesterolemia disease pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
ibandronate pharmacodynamics pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
influenza A virus infection pathwayFdps
ketone bodies biosynthetic pathwayHmgcs1
ketone bodies metabolic pathwayAcat2 , Hmgcs1
lysine degradation pathwayAcat2
metabolic syndrome pathwayHmgcr
mevalonate kinase deficiency pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
nitrogenous bisphosphonate pharmacodynamics pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
pamidronate pharmacodynamics pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
propanoate metabolic pathwayAcat2
pyruvate metabolic pathwayAcat2
risedronate pharmacodynamics pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
Smith-Lemli-Opitz Syndrome pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
statin pharmacodynamics pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
steroid biosynthetic pathwayCyp51 , Dhcr24 , Dhcr7 , Ebp , Fdft1 , Hsd17b7 , Lipa , Lss , Nsdhl , Sc5d , Soat1 , Sqle , Tm7sf2
steroid hormone biosynthetic pathwayHsd17b7
terpenoid biosynthetic pathwayAcat2 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Idi1 , Mvd , Mvk , Pmvk
tryptophan metabolic pathwayAcat2
valine, leucine and isoleucine degradation pathwayAcat2 , Hmgcs1
Wolman disease pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
X-linked dominant chondrodysplasia punctata 2 disease pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2
Zellweger syndrome pathwayLipa
zoledronate pharmacodynamics pathwayAcat2 , Cyp51 , Dhcr24 , Ebp , Fdft1 , Fdps , Ggps1 , Hmgcr , Hmgcs1 , Hsd17b7 , Idi1 , Lipa , Lss , Msmo1 , Mvd , Mvk , Nsdhl , Pmvk , Sc5d , Soat1 , Sqle , Tm7sf2

References Associated with the cholesterol biosynthetic pathway:

Ontology Path Diagram:

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