CYP7A1

CYP7A1 (Cytochrome P450 Family 7 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP7A1 include Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency and Sitosterolemia. Among its related pathways are Farnesoid X Receptor Pathway and Metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP7B1.

Full Name

Cytochrome P450 Family 7 Subfamily A Member 1

Function

A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) (PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:2384150, PubMed:21813643).

Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:2384150, PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:21813643).

Functions as a critical regulatory enzyme of bile acid biosynthesis and cholesterol homeostasis. Catalyzes the hydroxylation of carbon hydrogen bond at 7-alpha position of cholesterol, a rate-limiting step in cholesterol catabolism and bile acid biosynthesis (PubMed:12077124, PubMed:19965590, PubMed:2384150).

7-alpha hydroxylates several oxysterols, including 4beta-hydroxycholesterol and 24-hydroxycholesterol (PubMed:11013305, PubMed:12077124).

Catalyzes the oxidation of the 7,8 double bond of 7-dehydrocholesterol and lathosterol with direct and predominant formation of the 7-keto derivatives (PubMed:21813643).

Biological Process

Bile acid and bile salt transport Source: Ensembl
Bile acid biosynthetic process Source: UniProtKB
Bile acid signaling pathway Source: Ensembl
Cellular response to cholesterol Source: UniProtKB
Cellular response to glucose stimulus Source: UniProtKB
Cholesterol catabolic process Source: UniProtKB
Cholesterol homeostasis Source: UniProtKB
Negative regulation of collagen biosynthetic process Source: Ensembl
Negative regulation of fatty acid biosynthetic process Source: Ensembl
Positive regulation of cholesterol biosynthetic process Source: Ensembl
Regulation of bile acid biosynthetic process Source: UniProtKB
Regulation of gene expression Source: Ensembl
Regulation of metabolic process Source: Reactome
Response to ethanol Source: Ensembl
Sterol metabolic process Source: Reactome

Cellular Location

Endoplasmic reticulum membrane; Microsome membrane

Topology

Helical: 4-24