Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cyp2r1provided by MGI
Official Full Name: cytochrome P450, family 2, subfamily r, polypeptide 1provided by MGI
Primary source: MGI:MGI:2449771
See related: Ensembl:ENSMUSG00000030670 AllianceGenome:MGI:2449771
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
Summary: Enables vitamin D3 25-hydroxylase activity. Acts upstream of or within vitamin D metabolic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in cytoplasm and intracellular membrane-bounded organelle. Is expressed in embryo; liver; and testis. Human ortholog(s) of this gene implicated in type 1 diabetes mellitus and vitamin D-dependent rickets type 1B. Orthologous to human CYP2R1 (cytochrome P450 family 2 subfamily R member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver adult (RPKM 2.6), adrenal adult (RPKM 1.1) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F1; 7 59.79 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (114149358..114162283, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (114550123..114563048, complement)

Chromosome 7 - NC_000073.7 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?

Streptozotocin-induced Diabetes Represses Hepatic CYP2R1 Expression but Induces Vitamin D 25-Hydroxylation in Male Mice.
Title: Streptozotocin-induced Diabetes Represses Hepatic CYP2R1 Expression but Induces Vitamin D 25-Hydroxylation in Male Mice.
Obesity Decreases Hepatic 25-Hydroxylase Activity Causing Low Serum 25-Hydroxyvitamin D.
Title: Obesity Decreases Hepatic 25-Hydroxylase Activity Causing Low Serum 25-Hydroxyvitamin D.
These results suggest that CYP2R1 and CYP26A1 may play a major role in hepatoblast cell differentiation during the development of the liver.
Title: Role of the Drug-Metabolizing Enzyme CYP during Mouse Liver Development.
The results of this study suggest that CYP2R1 and CYP26A1 are important in the differentiation of oval cells into hepatoblast-like cells in the injured liver
Title: Analysis of CYP2R1 and CYP26A1 Expression Patterns in Regeneration in Mice with Liver Injury.
CYP2R1 is the major enzyme responsible for 25-hydroxylation of vitamin D.
Title: CYP2R1 is a major, but not exclusive, contributor to 25-hydroxyvitamin D production in vivo.
Data show that the absence of either of the two key hydroxylases, vitamin D 25-hydroxylase (CYP2R1) or vitamin D 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1)neither inhibits nor enhances the development of experimental autoimmune encephalomyelitis (EAE).
Title: Development of experimental autoimmune encephalomyelitis (EAE) in mice requires vitamin D and the vitamin D receptor.
CYP2R1 is a strong candidate for the microsomal vitamin D 25-hydroxylase.
Title: De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase.

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Variation

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Alleles

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

Targeted (3)
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:489552

Cyp2r1 (e-PCR), detects polymorphism
- UniSTS:468830

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables D3 vitamins binding	ISO Inferred from Sequence Orthology more info
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	ISO Inferred from Sequence Orthology more info
enables iron ion binding	ISO Inferred from Sequence Orthology 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 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IBA Inferred from Biological aspect of Ancestor more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables steroid hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables vitamin D3 25-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables vitamin D3 25-hydroxylase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in calcitriol biosynthetic process from calciol	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in organic acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within vitamin D metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: vitamin D 25-hydroxylase

Names: cytochrome P450, 2r1

NP_796356.2

EC 1.14.14.24

XP_006507901.1

EC 1.14.14.24

XP_006507902.1

EC 1.14.14.24

XP_006507903.1

EC 1.14.14.24

XP_006507904.1

EC 1.14.14.24

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_177382.4 → NP_796356.2 vitamin D 25-hydroxylase

See identical proteins and their annotated locations for NP_796356.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the supported protein.

Source sequence(s)

BB013625, BB061096, BC108961

Consensus CDS

CCDS21761.1

UniProtKB/Swiss-Prot

Q6VVW9

UniProtKB/TrEMBL

Q32MW1

Related

ENSMUSP00000032908.9, ENSMUST00000032908.15

Conserved Domains (1) summary

pfam00067
Location:40 → 497

p450; Cytochrome P450

RNA

NR_110407.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses alternate splice sites in two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BB013625, BB061096, BC108961, BC108962

Related

ENSMUST00000138712.8
NR_110408.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses alternate splice sites in two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK050453, BB013625, BB061096, BC108961

Related

ENSMUST00000147428.2

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_000073.7 Reference GRCm39 C57BL/6J

Range

114149358..114162283 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006507841.4 → XP_006507904.1 vitamin D 25-hydroxylase isoform X4

Conserved Domains (1) summary

pfam00067
Location:101 → 294

p450; Cytochrome P450
XM_006507838.4 → XP_006507901.1 vitamin D 25-hydroxylase isoform X1

Conserved Domains (1) summary

pfam00067
Location:100 → 475

p450; Cytochrome P450
XM_006507840.4 → XP_006507903.1 vitamin D 25-hydroxylase isoform X3

UniProtKB/TrEMBL

D3YTX0

Related

ENSMUSP00000112818.2, ENSMUST00000119712.8

Conserved Domains (2) summary

pfam00067
Location:120 → 316

p450; Cytochrome P450

cl12078
Location:35 → 131

p450; Cytochrome P450
XM_006507839.4 → XP_006507902.1 vitamin D 25-hydroxylase isoform X2

UniProtKB/TrEMBL

D3YTX0

Conserved Domains (1) summary

pfam00067
Location:40 → 338

p450; Cytochrome P450