Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cyp27a1provided by MGI
Official Full Name: cytochrome P450, family 27, subfamily a, polypeptide 1provided by MGI
Primary source: MGI:MGI:88594
See related: Ensembl:ENSMUSG00000026170 AllianceGenome:MGI:88594
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cyp27; 1300013A03Rik
Summary: Predicted to enable Hsp70 protein binding activity; heme binding activity; and monooxygenase activity. Predicted to be involved in bile acid biosynthetic process; calcitriol biosynthetic process from calciol; and cholesterol catabolic process. Predicted to act upstream of or within steroid biosynthetic process. Located in mitochondrial inner membrane. Is expressed in several structures, including central nervous system; liver; male reproductive gland or organ; metanephros; and retina. Human ortholog(s) of this gene implicated in cerebrotendinous xanthomatosis. Orthologous to human CYP27A1 (cytochrome P450 family 27 subfamily A member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver adult (RPKM 72.0), bladder adult (RPKM 14.6) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C4; 1 38.54 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (74752311..74777056)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (74713148..74737897)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CYP27A1-27-hydroxycholesterol axis in the respiratory system contributes to house dust mite-induced allergic airway inflammation.
Title: CYP27A1-27-hydroxycholesterol axis in the respiratory system contributes to house dust mite-induced allergic airway inflammation.
Different effects of CYP27A1 and CYP7B1 on cognitive function: Two mouse models in comparison.
Title: Different effects of CYP27A1 and CYP7B1 on cognitive function: Two mouse models in comparison.
CYP27A1 deficiency promoted osteoclast differentiation.
Title: CYP27A1 deficiency promoted osteoclast differentiation.
Vertical sleeve gastrectomy confers metabolic improvements by reducing intestinal bile acids and lipid absorption in mice.
Title: Vertical sleeve gastrectomy confers metabolic improvements by reducing intestinal bile acids and lipid absorption in mice.
High expression of cytochrome P450 family 27 subfamily A member 1 (CYP27A1), the enzyme responsible for the synthesis of 27-Hydroxycholesterol (27HC), is associated with decreased progression free survival for ovarian cancer. ID8 tumor cell grafts are unable to effectively establish in CYP27A1-/- mice, indicating involvement of the host environment. Tumors from mice treated with 27HC had altered myeloid cell composition.
Title: Host CYP27A1 expression is essential for ovarian cancer progression.
7KCh up-regulated IL-1betamRNA, TNF-alphamRNA, IL-6 mRNA, and IL-1beta secretion of RPE. U0126, a MEK1/2 inhibitor, down regulated the expression of these inflammation factors. Our findings may help elucidate the potential role of 7KCh in the pathogenesis of AMD.
Title: 7-Ketocholesterol disturbs RPE cells phagocytosis of the outer segment of photoreceptor and induces inflammation through ERK signaling pathway.
In het mice, RIF had no effect on plasma lipids composition, CYP27A1 activity, and atherosclerotic plaque development, despite a reduction in cholesterol absorption. In conclusion, the antiatherogenic effect of Cyp3a11 induction by RIF was also dependent on Cyp27a1 expression.
Title: Sterol 27-hydroxylase gene dosage and the antiatherosclerotic effect of Rifampicin in mice.
CYP46A1 is involved in cholestanol removal from the brain and that several factors contribute to the preferential increase in cholestanol in the cerebellum arising from CYP27A1 deficiency.
Title: Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum.
The cholesterol diet reduced the levels of the "memory protein" Arc (Activity Regulated Cytoskeleton associated protein) in the hippocampus of the wildtype mice but not in the hippocampus of the Cyp27-/- mice.
Title: 27-hydroxycholesterol mediates negative effects of dietary cholesterol on cognition in mice.
overexpression of Cyp27a1 in KCs reduces hepatic inflammation independently of 27HC levels in plasma and liver, further pointing towards KCs as specific target for improving the therapy of NASH.
Title: Hematopoietic overexpression of Cyp27a1 reduces hepatic inflammation independently of 27-hydroxycholesterol levels in Ldlr(-/-) mice.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:256607 (e-PCR)
- UniSTS:256607

Cyp27a1 (e-PCR), detects polymorphism
- UniSTS:256607

Cyp27a1 (e-PCR), detects polymorphism
- UniSTS:462986

Cyp27a1 (e-PCR), detects polymorphism
- UniSTS:546717

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3-alpha,7-alpha,12-alpha-trihydroxycholestan-26-al 26-oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables Hsp70 protein binding	ISO Inferred from Sequence Orthology more info
enables cholestanetriol 26-monooxygenase activity	ISO Inferred from Sequence Orthology more info
enables cholesterol 26-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol 26-hydroxylase activity	ISO Inferred from Sequence Orthology more info
enables heme binding	ISO Inferred from Sequence Orthology more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA Inferred from Electronic Annotation more info
enables vitamin D3 25-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables vitamin D3 25-hydroxylase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in bile acid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in calcitriol biosynthetic process from calciol	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcitriol biosynthetic process from calciol	ISO Inferred from Sequence Orthology more info
involved_in cholesterol catabolic process	ISO Inferred from Sequence Orthology more info
involved_in cholesterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within steroid biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within steroid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	HDA more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: sterol 26-hydroxylase, mitochondrial

Names: 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 26-hydroxylase; 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase; cholesterol 27 hydroxylase; cytochrome P-450C27/25; cytochrome P450, 27a1; sterol 27-hydroxylase; vitamin D(3) 25-hydroxylase

NP_077226.2

EC 1.14.15.15

XP_006495670.1

EC 1.14.15.15

XP_036021544.1

EC 1.14.15.15

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_024264.5 → NP_077226.2 sterol 26-hydroxylase, mitochondrial precursor

See identical proteins and their annotated locations for NP_077226.2

Status: VALIDATED

Source sequence(s)

AC152409, AK004977, CV560359

Consensus CDS

CCDS15054.1

UniProtKB/Swiss-Prot

Q9DBG1

Related

ENSMUSP00000027356.6, ENSMUST00000027356.7

Conserved Domains (1) summary

pfam00067
Location:82 → 527

p450; Cytochrome P450

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

74752311..74777056

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006495607.4 → XP_006495670.1 sterol 26-hydroxylase, mitochondrial isoform X2

Conserved Domains (1) summary

pfam00067
Location:11 → 385

p450; Cytochrome P450
XM_036165651.1 → XP_036021544.1 sterol 26-hydroxylase, mitochondrial isoform X1

UniProtKB/TrEMBL

Q99LX3

Conserved Domains (1) summary

cl41757
Location:1 → 431

cytochrome_P450; cytochrome P450 (CYP) superfamily