Cyp51 cytochrome P450, family 51 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cyp51provided by MGI
Official Full Name: cytochrome P450, family 51provided by MGI
Primary source: MGI:MGI:106040
See related: Ensembl:ENSMUSG00000001467 AllianceGenome:MGI:106040
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: Ldm; CYPLI; P450LI; Cyp51a1; P450-14DM
Summary: Predicted to enable heme binding activity and sterol 14-demethylase activity. Involved in negative regulation of amyloid-beta clearance; negative regulation of protein catabolic process; and negative regulation of protein secretion. Predicted to be located in acrosomal vesicle and endoplasmic reticulum. Is expressed in several structures, including early conceptus; genitourinary system; integumental system; jaw; and nervous system. Orthologous to human CYP51A1 (cytochrome P450 family 51 subfamily A member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 27.0), CNS E11.5 (RPKM 23.5) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 A1; 5 2.3 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (4130674..4154697, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (4080674..4104697, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

we identify a global and sex-dependent transcriptional de-regulation due to the block in cholesterol synthesis during development of the Cyp51 knockout mice and provide in vivo evidence that sterol intermediates downstream of lanosterol may regulate the hepatic RORC activity.
Title: Disrupting Hepatocyte Cyp51 from Cholesterol Synthesis Leads to Progressive Liver Injury in the Developing Mouse and Decreases RORC Signalling.
CYP51 is a mediator of T3 and FSH-induced follicular development.
Title: Role of CYP51 in the Regulation of T3 and FSH-Induced Steroidogenesis in Female Mice.
Our Cyp51 LKO model shows that steatosis appears with dietary fats in the absence of dietary cholesterol and its synthesis, while a block in the cholesterol pathway leads to NASH-like features
Title: Lessons from hepatocyte-specific Cyp51 knockout mice: impaired cholesterol synthesis leads to oval cell-driven liver injury.
germ cell-specific ablation of Cyp51, leading to lack of MAS, did not affect testicular morphology, daily sperm production, or reproductive performance in males.
Title: Male germ cell-specific knockout of cholesterogenic cytochrome P450 lanosterol 14α-demethylase (Cyp51).
Cyp51 knock-out mice provide evidence that Cyp51 is essential for embryogenesis and present a potential animal model for studying ABS syndrome in humans.
Title: Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome.
Findings suggest that FSH, partially at least, employs CYP51, and therefore the MAS pathway, to initiate oocyte meiosis.
Title: Reducing CYP51 inhibits follicle-stimulating hormone induced resumption of mouse oocyte meiosis in vitro.
Lanosterol 14alpha-demethylase (LDM) is closely related to mouse embryo implantation and can be upregulated by oestrogen.
Title: Expression and regulation of lanosterol 14alpha-demethylase in mouse embryo and uterus during the peri-implantation period.
These data indicate that Crem-dependent regulation of Cyp51 in the liver results in circadian expression of this gene.
Title: CREM modulates the circadian expression of CYP51, HMGCR and cholesterogenesis in the liver.
there was a cholesterol levels link-modulation system between cholesterol synthetic pathway through CYP51 and cholesterol transport pathway through , low-density lipoprotein receptor in vivo
Title: Silencing of mouse hepatic lanosterol 14-alpha demethylase down-regulated plasma low-density lipoprotein cholesterol levels by short-term treatment of siRNA.
Demethylation of lanosterol to FF-MAS by the acrosomal lanosterol 14 alpha-demethylase enzyme complex demonstrates for the first time the ability of ejaculate sperm to synthesize meiosis-activating sterols.
Title: A functional cytochrome P450 lanosterol 14 alpha-demethylase CYP51 enzyme in the acrosome: transport through the Golgi and synthesis of meiosis-activating sterols.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cyp51 (e-PCR), detects polymorphism
- UniSTS:532540

UniSTS:256608 (e-PCR)
- UniSTS:256608

Cyp51 (e-PCR), detects polymorphism
- UniSTS:256608

Cyp51 (e-PCR), detects polymorphism
- UniSTS:463011

Cyp51 (e-PCR), detects polymorphism
- UniSTS:546728

AI426508 (e-PCR)
- UniSTS:179128

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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	IBA Inferred from Biological aspect of Ancestor more info
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA Inferred from Electronic Annotation more info
enables sterol 14-demethylase activity	ISO Inferred from Sequence Orthology more info
enables sterol 14-demethylase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cholesterol biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in cholesterol biosynthetic process via 24,25-dihydrolanosterol	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of amyloid-beta clearance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of oocyte development	ISO Inferred from Sequence Orthology more info
involved_in steroid biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within steroid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sterol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in sterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: lanosterol 14-alpha demethylase

Names: cytochrome P450 51A1; cytochrome P450, 51; cytochrome P450-14DM; cytochrome P45014DM; cytochrome P450LI; sterol 14-alpha demethylase

NP_064394.2

EC 1.14.14.154

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.