Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cyp27b1provided by MGI
Official Full Name: cytochrome P450, family 27, subfamily b, polypeptide 1provided by MGI
Primary source: MGI:MGI:1098274
See related: Ensembl:ENSMUSG00000006724 AllianceGenome:MGI:1098274
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: Vdr; Cp2b; Cyp1; Pddr; Vdd1; Vddr; Cyp40; VddrI; Cyp27b; P450c1
Summary: Enables calcidiol 1-monooxygenase activity. Involved in calcitriol biosynthetic process from calciol; response to vitamin D; and vitamin D catabolic process. Acts upstream of or within calcium ion transport. Located in mitochondrion. Is expressed in several structures, including lower jaw molar; metanephros; and testis. Used to study rickets. Human ortholog(s) of this gene implicated in hepatitis B; obesity; rickets; type 1 diabetes mellitus; and vitamin D-dependent rickets type 1A. Orthologous to human CYP27B1 (cytochrome P450 family 27 subfamily B member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in kidney adult (RPKM 4.4), stomach adult (RPKM 0.7) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 D3; 10 74.5 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (126884115..126891897)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (127048246..127054884)

Chromosome 10 - NC_000076.7 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?

Vitamin D receptor and 1alpha-hydroxylase are highly expressed in lungs of mice infected with H9N2 avian influenza viruses.
Title: Vitamin D receptor and 1α-hydroxylase are highly expressed in lungs of mice infected with H9N2 avian influenza viruses.
Modified expression of vitamin D receptor and CYP27B1 in denervation-induced muscle atrophy.
Title: Modified expression of vitamin D receptor and CYP27B1 in denervation-induced muscle atrophy.
25(OH)D3 stimulates the expression of vitamin D target genes in renal tubular cells when Cyp27b1 is abrogated.
Title: 25(OH)D(3) stimulates the expression of vitamin D target genes in renal tubular cells when Cyp27b1 is abrogated.
Study in knockout mice provides evidence that bone 1alpha-hydroxylase Cyp27b1 may play a central role in the regulation of sclerostin, BMP2, and FGF23 in chronic kidney disease. Increased osteocytic 1,25(OH)2D production, triggered by renal malfunction, may represent a "primary defensive response" to protect the organism from ectopic calcification by increasing sclerostin and suppressing BMP2 production.
Title: Vitamin D-regulated osteocytic sclerostin and BMP2 modulate uremic extraskeletal calcification.
Deletion of both submodules eliminated basal Cyp27b1 expression and regulation in the kidney, leading to systemic and skeletal phenotypes similar to those of Cyp27b1-null mice
Title: Targeted genomic deletions identify diverse enhancer functions and generate a kidney-specific, endocrine-deficient Cyp27b1 pseudo-null mouse.
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.
Absence of calcitriol does not impair post-lactation bone recovery in Cyp27b1 null mice.
Title: Absence of Calcitriol Causes Increased Lactational Bone Loss and Lower Milk Calcium but Does Not Impair Post-lactation Bone Recovery in Cyp27b1 Null Mice.
AQP-1 was decreased in renal papilla and AQP-4 expressions were increased in proximal tubule by suppressing renin activity or supplement of Vitamin D analogue. After injecting renin into the lateral ventricle of the 1alpha(OH)ase knockout mice, the renin expression level was decreased in the kidney, followed by the decrease of AQP-1 in renal papilla and increase of AQP-4 in proximal tubule
Title: Vitamin D Regulates the Expressions of AQP-1 and AQP-4 in Mice Kidneys.
Vascular Calcification Induced by Chronic Kidney Disease Is Mediated by an Increase of 1alpha-Hydroxylase Expression in Vascular Smooth Muscle Cells
Title: Vascular Calcification Induced by Chronic Kidney Disease Is Mediated by an Increase of 1α-Hydroxylase Expression in Vascular Smooth Muscle Cells.
These results reveal that differential regulation of Cyp27b1 expression represents a mechanism whereby 1,25(OH)2D3 can fulfill separate functional roles, first in the kidney to control mineral homeostasis and second in extra-renal cells to regulate target genes linked to specific biological responses.
Title: A kidney-specific genetic control module in mice governs endocrine regulation of the cytochrome P450 gene Cyp27b1 essential for vitamin D(3) activation.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Variation

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Alleles

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

Targeted (7) 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

Cyp27b1 (e-PCR), detects polymorphism
- UniSTS:516655

AB006034 (e-PCR)
- UniSTS:160055

PMC19012P1 (e-PCR)
- UniSTS:271743

Cyp27b1 (e-PCR), detects polymorphism
- UniSTS:462987

Cyp27b1 (e-PCR), detects polymorphism
- UniSTS:546718

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcidiol 1-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcidiol 1-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables calcidiol 1-monooxygenase activity	ISO Inferred from Sequence Orthology more info
enables heme binding	IEA Inferred from Electronic Annotation 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 secalciferol 1-monooxygenase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in G1 to G0 transition	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	IDA Inferred from Direct Assay more info	PubMed
involved_in calcitriol biosynthetic process from calciol	ISO Inferred from Sequence Orthology more info
involved_in calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of bone trabecula formation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of calcidiol 1-monooxygenase activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ossification	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of keratinocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of parathyroid hormone secretion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vitamin D 24-hydroxylase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vitamin D receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of bone mineralization	ISO Inferred from Sequence Orthology more info
involved_in response to cAMP	ISO Inferred from Sequence Orthology more info
involved_in response to copper ion	ISO Inferred from Sequence Orthology more info
involved_in response to insulin	ISO Inferred from Sequence Orthology more info
involved_in response to lipopolysaccharide	ISO Inferred from Sequence Orthology more info
involved_in response to prostaglandin E	ISO Inferred from Sequence Orthology more info
involved_in response to type II interferon	ISO Inferred from Sequence Orthology more info
involved_in response to vitamin D	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to vitamin D	IDA Inferred from Direct Assay more info	PubMed
involved_in response to vitamin D	ISO Inferred from Sequence Orthology more info
involved_in response to xenobiotic stimulus	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	IDA Inferred from Direct Assay more info	PubMed
involved_in vitamin D catabolic process	ISO Inferred from Sequence Orthology more info
involved_in vitamin D metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation 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: 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

Names: 1alpha(OH)ase; 25(OH)D 1alpha-hydroxylase; 25-OHD-1 alpha-hydroxylase; 25-hydroxyvitamin D(3) 1-alpha-hydroxylase; 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial precursor (25-OHD-1 alpha-hydroxylase) (25-hydroxyvitamin D3 1-alpha-hydroxylase) (VD3 1A hydroxylase) (P450C1 alpha) (P450VD1-alpha); 25-hydroxyvitamin D3 1alpha-hydroxylase; P450VD1alpha; VD3 1A hydroxylase; calcidiol 1-monooxygenase; cytochrome P450 subfamily XXVIIB polypeptide 1; cytochrome P450, 27b1; cytochrome P450, 40 (25-hydroxyvitamin D3 1 alpha-hydroxylase); cytochrome P450C1 alpha; cytochrome P450VD1-alpha; cytochrome p450 27B1

NP_034139.2

EC 1.14.15.18

XP_006513250.1

EC 1.14.15.18

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_010009.2 → NP_034139.2 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

See identical proteins and their annotated locations for NP_034139.2

Status: VALIDATED

Source sequence(s)

AB006034, BC080697, BM119774, CF168641

Consensus CDS

CCDS24224.2

UniProtKB/Swiss-Prot

O35084

UniProtKB/TrEMBL

Q66JY8

Related

ENSMUSP00000130005.2, ENSMUST00000165764.8

Conserved Domains (1) summary

pfam00067
Location:41 → 504

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_000076.7 Reference GRCm39 C57BL/6J

Range

126884115..126891897

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006513187.5 → XP_006513250.1 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial isoform X1

UniProtKB/TrEMBL

Q66JY8

Conserved Domains (1) summary

pfam00067
Location:116 → 437

p450; Cytochrome P450