• Gene id: 120227

Gene Summary

• Gene Symbol: CYP2R1   Gene   UCSC   Ensembl
• Gene name: cytochrome P450 family 2 subfamily R member 1
• Alternate names: vitamin D 25-hydroxylase, cytochrome P450 2R1, cytochrome P450, family 2, R1, cytochrome P450, family 2, subfamily R, polypeptide 1,
• Gene location: 11p15.2 (14898914: 14877439)     Exons: 9     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a m
• OMIM: 608713

Protein Summary

• Protein general information: Q6VVX0  
  • Name: Vitamin D 25 hydroxylase (EC 1.14.14.24) (Cytochrome P450 2R1)
  • Length: 501  
  • Mass: 57359
• Sequence:

  MWKLWRAEEGAAALGGALFLLLFALGVRQLLKQRRPMGFPPGPPGLPFIGNIYSLAASSELPHVYMRKQSQVYGE
  IFSLDLGGISTVVLNGYDVVKECLVHQSEIFADRPCLPLFMKMTKMGGLLNSRYGRGWVDHRRLAVNSFRYFGYG
  QKSFESKILEETKFFNDAIETYKGRPFDFKQLITNAVSNITNLIIFGERFTYEDTDFQHMIELFSENVELAASAS
  VFLYNAFPWIGILPFGKHQQLFRNAAVVYDFLSRLIEKASVNRKPQLPQHFVDAYLDEMDQGKNDPSSTFSKENL
  IFSVGELIIAGTETTTNVLRWAILFMALYPNIQGQVQKEIDLIMGPNGKPSWDDKCKMPYTEAVLHEVLRFCNIV
  PLGIFHATSEDAVVRGYSIPKGTTVITNLYSVHFDEKYWRDPEVFHPERFLDSSGYFAKKEALVPFSLGRRHCLG
  EHLARMEMFLFFTALLQRFHLHFPHELVPDLKPRLGMTLQPQPYLICAERR

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR036396  
  • Prosite: PS00086
  • PDB: 3C6G 3CZH 3DL9
  • PDBsum: 3C6G 3CZH 3DL9
  • STRING: ENSP00000334592
• Other Databases: GeneCards:  CYP2R1  Malacards:  CYP2R1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0020037	heme binding	IBA	molecular function
GO:0016712	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	molecular function
GO:0006805	xenobiotic metabolic process	IBA	biological process
GO:0006082	organic acid metabolic process	IBA	biological process
GO:0042738	exogenous drug catabolic process	IBA	biological process
GO:0008395	steroid hydroxylase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:1902271	D3 vitamins binding	IDA	molecular function
GO:0005506	iron ion binding	IDA	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0036378	calcitriol biosynthetic process from calciol	IDA	biological process
GO:0030343	vitamin D3 25-hydroxylase activity	IDA	molecular function
GO:0036378	calcitriol biosynthetic process from calciol	IDA	biological process
GO:0030343	vitamin D3 25-hydroxylase activity	IDA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006766	vitamin metabolic process	TAS	biological process
GO:0030343	vitamin D3 25-hydroxylase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0042359	vitamin D metabolic process	TAS	biological process
GO:0042359	vitamin D metabolic process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0030343	vitamin D3 25-hydroxylase activity	IEA	molecular function
GO:0010038	response to metal ion	IEA	biological process
GO:0010164	response to cesium ion	IEA	biological process
GO:0010212	response to ionizing radiation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0042368	vitamin D biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Vitamin D-dependent rickets	KEGG:H01143
Vitamin D-dependent rickets	KEGG:H01143
type 1 diabetes mellitus	PMID:17607662
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881