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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
vitamin D metabolic process
response to cesium ion	IEA
calcitriol biosynthetic process from calciol	IDA	15465040 18511070
response to ionizing radiation	IEA
organic acid metabolic process	IBA

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
intracellular membrane-bounded organelle	IBA
cytoplasm	IBA
endoplasmic reticulum membrane

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 7 in total

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GO Term	Evidence Code	PMID
D3 vitamins binding	IDA	18511070
protein homodimerization activity	IDA	18511070
steroid hydroxylase activity	IBA
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

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

monooxygenase activity [inference]

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.

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 entries **1 - 10** of **142** in total

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DO ID	Disease Name	Source
DOID:0050336	hypophosphatemia	DisGeNET
DOID:0050387	nonpapillary renal cell carcinoma	DisGeNET
DOID:0050457	Sertoli cell-only syndrome	DisGeNET DisGeNET
DOID:0050865	tongue squamous cell carcinoma	DisGeNET
DOID:0060041	autism spectrum disorder	DisGeNET
DOID:0070186	Y-linked spermatogenic failure 1	DisGeNET
DOID:0070189	X-linked spermatogenic failure 1	DisGeNET
DOID:0080199	colorectal carcinoma	DisGeNET
DOID:0080525	differentiated thyroid gland carcinoma	DisGeNET
DOID:0080887	vitamin D-dependent rickets type 1B	Alliance of Genome Resources

The Human Phenotype Ontology

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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
OMIM:600081	vitamin D hydroxylation-deficient rickets, type 1B
ORPHA:289157	vitamin D-dependent rickets, type 1

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

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	178695	WB:WBGene00016697
Caenorhabditis elegans	178704	WB:WBGene00018413
Caenorhabditis elegans	179148	WB:WBGene00015709
Caenorhabditis elegans	182888	WB:WBGene00016092
Caenorhabditis elegans	187025	WB:WBGene00010589
Caenorhabditis elegans	189444	WB:WBGene00012448
Drosophila melanogaster	32857	FB:FBgn0004959
Drosophila melanogaster	32858	FB:FBgn0010383
Callorhinchus milii	103175087		CALMI06466
Danio rerio	563369	ZFIN:ZDB-GENE-110114-1

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements