Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cyp24a1provided by MGI
Official Full Name: cytochrome P450, family 24, subfamily a, polypeptide 1provided by MGI
Primary source: MGI:MGI:88593
See related: Ensembl:ENSMUSG00000038567 AllianceGenome:MGI:88593
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CP24; Cyp24; 24-OHase
Summary: The protein encoded by this gene localizes to the mitochondrion, where it degrades calcitriol to calcitetrol. This gene is upregulated by binding of calcitriol to the upstream regulatory region and to a downstream enhancer region, thereby allowing calcitriol to autoregulate its concentration in the cell. The encoded protein may also play a role in calcium homeostasis. [provided by RefSeq, Aug 2015]
Expression: Restricted expression toward kidney adult (RPKM 11.8) See more
Orthologs: human all
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Genomic context

Location:: 2 H3; 2 91.91 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (170324877..170339065, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (170482957..170497145, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In Vivo Contribution of Cyp24a1 Promoter Vitamin D Response Elements.
Title: In Vivo Contribution of Cyp24a1 Promoter Vitamin D Response Elements.
Cell-type differential targeting of SETDB1 prevents aberrant CTCF binding, chromatin looping, and cis-regulatory interactions.
Title: Cell-type differential targeting of SETDB1 prevents aberrant CTCF binding, chromatin looping, and cis-regulatory interactions.
Decreased expression of Cyp24a1 in susceptible strains was associated with genetic alterations in noncoding regions of Cyp24a1 gene, which were strongly reminiscent of super-enhancers that regulate gene expression.
Title: Noncoding variations in Cyp24a1 gene are associated with Klotho-mediated aging phenotypes in different strains of mice.
Impact of dietary vitamin D on initiation and progression of oral cancer.
Title: Impact of dietary vitamin D on initiation and progression of oral cancer.
Glutathione deficiency alters the vitamin D-metabolizing enzymes CYP27B1 and CYP24A1 in human renal proximal tubule epithelial cells and kidney of high-fat diet fed mice.
Title: Glutathione deficiency alters the vitamin D-metabolizing enzymes CYP27B1 and CYP24A1 in human renal proximal tubule epithelial cells and kidney of HFD-fed mice.
Cyp24a1 gene deletion in the mammary epithelium inhibits luminal epithelial proliferation but not apoptosis. Luminal mammary epithelial cells are more sensitive to 1,25(OH)2D with the ablation of Cyp24a1 activity.
Title: Mammary-specific ablation of Cyp24a1 inhibits development, reduces proliferation and increases sensitivity to vitamin D.
SREBP1 trans-activates CYP24A1 expression through SREBP binding elements present in the promoter.
Title: Sterol regulatory element binding protein 1 trans-activates 25-hydroxy vitamin D(3) 24-hydroxylase gene expression in renal proximal tubular cells.
CYP24A1 activity is not essential for intramembranous bone formation.
Title: CYP24A1-deficiency does not affect bone regeneration in distraction osteogenesis.
results link CYP24 activity to the pathophysiology of FGF23-dependent renal phosphate wasting states and implicate pharmacologic CYP24 inhibition as a therapeutic adjunct for their treatment.
Title: CYP24 inhibition as a therapeutic target in FGF23-mediated renal phosphate wasting disorders.
Gsalpha is required in proximal tubules for suppressing renal vitamin D 24-hydroxylase mRNA levels and for maintaining normal serum 1,25(OH)2D.
Title: Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cyp24a1 (e-PCR), detects polymorphism
- UniSTS:516654

Cyp24a1 (e-PCR), detects polymorphism
- UniSTS:462984

Cyp24 (e-PCR), detects polymorphism
- UniSTS:141449

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity	IEA Inferred from Electronic Annotation more info
enables 1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity	ISO Inferred from Sequence Orthology more info
enables 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	ISO Inferred from Sequence Orthology more info
enables 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables 25-hydroxycholecalciferol-23-hydroxylase activity	IEA Inferred from Electronic Annotation more info
enables 25-hydroxycholecalciferol-23-hydroxylase activity	ISO Inferred from Sequence Orthology more info
enables 25-hydroxycholecalciferol-24-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 25-hydroxycholecalciferol-24-hydroxylase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 25-hydroxycholecalciferol-24-hydroxylase activity	ISO Inferred from Sequence Orthology more info
enables 25-hydroxycholecalciferol-24-hydroxylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables heme binding	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables vitamin D 24-hydroxylase activity	ISO Inferred from Sequence Orthology more info
enables vitamin D 24-hydroxylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables vitamin D 25-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables vitamin D 25-hydroxylase activity	ISO Inferred from Sequence Orthology more info
enables vitamin D 25-hydroxylase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cellular response to vitamin D	IEA Inferred from Electronic Annotation more info
involved_in osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin D	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to vitamin D	ISO Inferred from Sequence Orthology more info
involved_in vitamin D catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin D catabolic process	ISO Inferred from Sequence Orthology more info
involved_in vitamin D catabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within vitamin D metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vitamin D metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in mitochondrion	HDA more info	PubMed

General protein information

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Preferred Names: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial

Names: 25-hydroxyvitamin D-24-hydroxylase; cytochrome P450 24A1; cytochrome P450, 24; cytochrome P450, 24a1; cytochrome P450-CC24; vitamin D(3) 24-hydroxylase

NP_034126.1

EC 1.14.15.16

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.