CYP27A1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0008203Biological processcholesterol metabolic process
GO_0006707Biological processcholesterol catabolic process
GO_0006699Biological processbile acid biosynthetic process
GO_0036378Biological processcalcitriol biosynthetic process from calciol
GO_0016125Biological processsterol metabolic process
GO_0005759Cellular componentmitochondrial matrix
GO_0005743Cellular componentmitochondrial inner membrane
GO_0005739Cellular componentmitochondrion
GO_0031073Molecular functioncholesterol 26-hydroxylase activity
GO_0005506Molecular functioniron ion binding
GO_0030343Molecular functionvitamin D3 25-hydroxylase activity
GO_0047748Molecular functioncholestanetetraol 26-dehydrogenase activity
GO_0008395Molecular functionsteroid hydroxylase activity
GO_0020037Molecular functionheme binding

IV. Literature review

[source]
Gene nameCYP27A1
Protein nameCytochrome P450 family 27 subfamily A member 1
Sterol 27-hydroxylase
Sterol 26-hydroxylase, mitochondrial (EC 1.14.15.15) (5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 26-hydroxylase) (Cytochrome P-450C27/25) (Cytochrome P450 27) (Sterol 27-hydroxylase) (Vitamin D(3) 25-hydroxylase)
SynonymsCYP27
DescriptionFUNCTION: Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid . Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutral' (classic) and the 'acid' (alternative) pathways . May also regulate cholesterol homeostasis via generation of active oxysterols, which act as ligands for NR1H2 and NR1H3 nuclear receptors, modulating the transcription of genes involved in lipid metabolism . Plays a role in cholestanol metabolism in the cerebellum. Similarly to cholesterol, hydroxylates cholestanol and may facilitate sterol diffusion through the blood-brain barrier to the systemic circulation for further degradation . Also hydroxylates retinal 7-ketocholesterol, a noxious oxysterol with pro-inflammatory and pro-apoptotic effects, and may play a role in its elimination from the retinal pigment epithelium . May play a redundant role in vitamin D biosynthesis. Catalyzes 25-hydroxylation of vitamin D3 that is required for its conversion to a functionally active form . .

AccessionsF8WD90
C9J1K5
ENST00000445971.1
Q02318
Q96T86
ENST00000258415.9
ENST00000411688.1