CYP27A1

cytochrome P450 family 27 subfamily A member 1 | CP27, CTX, CYP27

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

Member of: DE-9 Developmental clusters: GC6

Biological processes 32 terms

bile acid biosynthetic process (GO:0006699)bile acid biosynthetic process (GO:0006699)bile acid biosynthetic process (GO:0006699)calcitriol biosynthetic process from calciol (GO:0036378)calcitriol biosynthetic process from calciol (GO:0036378)cholestanetetraol 26-dehydrogenase activity (GO:0047748)cholestanetetraol 26-dehydrogenase activity (GO:0047748)cholesterol 26-hydroxylase activity (GO:0031073)cholesterol 26-hydroxylase activity (GO:0031073)cholesterol catabolic process (GO:0006707)cholesterol catabolic process (GO:0006707)cholesterol metabolic process (GO:0008203)heme binding (GO:0020037)heme binding (GO:0020037)iron ion binding (GO:0005506)lipid biosynthetic process (GO:0008610)mitochondrial inner membrane (GO:0005743)mitochondrial matrix (GO:0005759)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)monooxygenase activity (GO:0004497)oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)positive regulation of smoothened signaling pathway (GO:0045880)positive regulation of smoothened signaling pathway (GO:0045880)steroid hydroxylase activity (GO:0008395)steroid metabolic process (GO:0008202)sterol metabolic process (GO:0016125)vitamin D3 25-hydroxylase activity (GO:0030343)vitamin D3 25-hydroxylase activity (GO:0030343)

Expression (TPM)

TFs regulating CYP27A1 0 TFs

Transcription factors with Perturb-seq knockdown data for CYP27A1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = CYP27A1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

TF	Mean coef	Binding	Outlier	TF→Gene link

Rows:

Elements linked to CYP27A1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of CYP27A1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Element	Dist. to TSS	Link type	TFs
chr2:218,567,787–218,569,400	213.2 kb	Distal (>10kb) Multiome	1083
chr2:218,658,668–218,660,011	122.1 kb	Distal (>10kb) Multiome	870
chr2:218,671,689–218,672,558	109.7 kb	Distal (>10kb) Multiome	794
chr2:218,710,272–218,711,420	70.9 kb	Distal (>10kb) Multiome	957
chr2:218,781,682–218,782,718	407 bp	At TSS Multiome	674
chr2:218,798,810–218,799,640	17.5 kb	Distal (>10kb) Multiome HiCAR	163
chr2:218,799,866–218,800,388	18.6 kb	Distal (>10kb) Multiome	82
chr2:218,860,491–218,861,382	79.3 kb	Distal (>10kb) Multiome	241
chr2:218,883,560–218,884,239	102.2 kb	Distal (>10kb) Multiome	190
chr2:218,892,714–218,893,400	111.2 kb	Distal (>10kb) Multiome	591
chr2:218,898,077–218,898,730	116.6 kb	Distal (>10kb) Multiome	624
chr2:218,908,757–218,909,543	127.4 kb	Distal (>10kb) Multiome	885
chr2:218,959,145–218,960,352	177.8 kb	Distal (>10kb) Multiome	416
chr2:218,962,902–218,964,278	181.6 kb	Distal (>10kb) Multiome	768
chr2:218,979,814–218,980,492	198.4 kb	Distal (>10kb) Multiome	499
chr2:218,984,382–218,985,013	202.9 kb	Distal (>10kb) Multiome	126
chr2:218,992,930–218,994,312	211.8 kb	Distal (>10kb) Multiome	265
chr2:218,995,885–218,998,018	214.5 kb	Distal (>10kb) Multiome	534
chr2:218,998,611–219,003,562	220.3 kb	Distal (>10kb) Multiome	941
chr2:219,057,853–219,058,462	276.4 kb	Distal (>10kb) Multiome	469
chr2:219,060,260–219,061,256	279.2 kb	Distal (>10kb) Multiome	240

Genome Browser

Genomic view of the CYP27A1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.