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cytochrome P450 family 2 subfamily R member 1

Summary

Gene Symbol

CYP2R1

Aliases

Vitamin D 25-hydroxylase

Organism

Homo sapiens (human)

External Links

NCBI Gene

120227

HGNC

20580

KEGG Gene ID

hsa:120227

PubChem

120227

Alliance of Genome Resources

HGNC:20580

Annotation

Keyword

3D-structure
Disease variant
Heme
Lipid metabolism
Membrane
Microsome
Monooxygenase
Reference proteome
Signal

Proteins

Displaying 1 entry
UniProt	Protein Name
Q6VVX0	Cytochrome P450 2R1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
organic acid metabolic process	IBA
vitamin metabolic process	TAS
xenobiotic metabolic process	IBA
response to cesium ion	IEA
response to ionizing radiation	IEA

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

cellular biosynthetic process [inference]

vitamin biosynthetic process [inference]

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

small molecule biosynthetic process [inference]

vitamin biosynthetic process [inference]

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic hydroxy compound biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

cellular metabolic process [inference]

cellular biosynthetic process [inference]

vitamin biosynthetic process [inference]

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin D metabolic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

small molecule metabolic process [inference]

alcohol metabolic process [inference]

polyol metabolic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

secondary alcohol metabolic process [inference]

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

organic acid metabolic process

vitamin metabolic process

fat-soluble vitamin metabolic process [inference]

vitamin D metabolic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin biosynthetic process [inference]

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

small molecule biosynthetic process [inference]

vitamin biosynthetic process [inference]

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic substance metabolic process [inference]

organic acid metabolic process

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin D metabolic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin D metabolic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic hydroxy compound biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

polyol metabolic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

secondary alcohol metabolic process [inference]

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

vitamin D metabolic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

organic hydroxy compound biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

cellular process [inference]

cellular metabolic process [inference]

cellular biosynthetic process [inference]

vitamin biosynthetic process [inference]

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

response to stimulus [inference]

response to abiotic stimulus [inference]

response to radiation [inference]

response to ionizing radiation

response to chemical [inference]

response to inorganic substance [inference]

response to metal ion [inference]

response to cesium ion

Displaying **all 3** entries
GO Term	Evidence Code	PMID
cytoplasm	IBA
endoplasmic reticulum membrane	TAS
intracellular membrane-bounded organelle	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytoplasm

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle

intracellular organelle [inference]

intracellular membrane-bounded organelle

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
iron ion binding	IDA	18511070
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
heme binding	IDA	18511070
heme binding	IBA
vitamin D3 25-hydroxylase activity	TAS

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

monooxygenase activity [inference]

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

vitamin D 25-hydroxylase activity [inference]

vitamin D3 25-hydroxylase activity

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [inference]

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

binding [inference]

protein binding [inference]

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

lipid binding [inference]

steroid binding [inference]

vitamin D binding [inference]

D3 vitamins binding

small molecule binding [inference]

vitamin binding [inference]

vitamin D binding [inference]

D3 vitamins binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

iron ion binding

organic cyclic compound binding [inference]

steroid binding [inference]

vitamin D binding [inference]

D3 vitamins binding

tetrapyrrole binding [inference]

heme binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

CYTOCHROME P450

Functional Category

I: Lipid transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

Displaying **all 6** entries
Gene Ontology
heme binding
iron ion binding
metal ion binding
monooxygenase activity
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
oxidoreductase activity

Displaying **all 4** entries
InterPro
Cytochrome P450 superfamily
Cytochrome P450, E-class, group I
Cytochrome P450, conserved site
Cytochrome P450

Human Protein Atlas

ENSG00000186104

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K07419

Name

vitamin D 25-hydroxylase [EC:1.14.14.24]

References

Rhea

RHEA:32903

O₂ + calciol

H₂O + H⁺ + calcidiol

Enzyme

1.14.14.24

PMID

Disease

Disease Ontology

Displaying **all 8** entries
DO ID	Disease Name	Source
DOID:0080887	vitamin D-dependent rickets type 1B	Alliance of Genome Resources
DOID:10763	hypertension	Alliance of Genome Resources
DOID:3393	coronary artery disease	Alliance of Genome Resources
DOID:3454	brain infarction	Alliance of Genome Resources
DOID:4248	coronary stenosis	Alliance of Genome Resources
DOID:5844	myocardial infarction	Alliance of Genome Resources
DOID:9744	type 1 diabetes mellitus	Alliance of Genome Resources
DOID:9970	obesity	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 60 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000684	Delayed eruption of teeth
HP:0000737	Irritability
HP:0000867	Secondary hyperparathyroidism
HP:0000886	Deformed rib cage
HP:0000893	Bulging of the costochondral junction
HP:0000897	Rachitic rosary
HP:0000920	Enlargement of the costochondral junction
HP:0001252	Hypotonia
HP:0001270	Motor delay

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:289157	vitamin D-dependent rickets, type 1
OMIM:600081	vitamin D hydroxylation-deficient rickets, type 1B

PubChem Disease

GHR Health Conditions

Vitamin D-dependent rickets

MedGen Diseases

Vitamin D hydroxylation-deficient rickets, type 1B

OMIM Phenotypes

VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B

KEGG Diseases

Vitamin D-dependent rickets

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP004786
Gene Name: cytochrome P450, family 2, subfamily R, polypeptide 1

Ortholog

Displaying entries **1 - 10** of **108** in total

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Species	Gene ID	Alliance of Genome Resources
Drosophila melanogaster	1555	FB:FBgn0004959
Drosophila melanogaster	1557	FB:FBgn0004959
Drosophila melanogaster	1558	FB:FBgn0004959
Drosophila melanogaster	1559	FB:FBgn0004959
Caenorhabditis elegans	1562	WB:WBGene00018413
Caenorhabditis elegans	1564	WB:WBGene00018413
Caenorhabditis elegans	1571	WB:WBGene00018413
Drosophila melanogaster	1573	FB:FBgn0010383
Caenorhabditis elegans	13085	WB:WBGene00016092
Caenorhabditis elegans	13086	WB:WBGene00016092

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements