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Tbio
CYP2R1
Vitamin D 25-hydroxylase

Protein Summary
Description
Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3). 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 microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000334636
  • ENSP00000334592
  • ENSG00000186104
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
virus perturbation
0.85
cell type or tissue
0.73
molecular function
0.7
pathway
0.66
gene perturbation
0.61


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 118.52   (req: < 5)
Gene RIFs: 62   (req: <= 3)
Antibodies: 200   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 118.52   (req: >= 5)
Gene RIFs: 62   (req: > 3)
Antibodies: 200   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Data Bank (3)
1 – 3 of 3
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (18)
Biological oxidations (R-HSA-211859)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 12
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Biological oxidations
Reactome
Cytochrome P450 - arranged by substrate type
Reactome
Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)
Reactome
Disease
Reactome
Diseases of metabolism
Name
Explore in Pharos
Explore in Source
Biological oxidations
Cytochrome P450 - arranged by substrate type
Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)
Disease
Diseases of metabolism
Gene Ontology Terms (17)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Traceable Author Statement (TAS)
Reactome
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (40)
1 – 10 of 40
CYP27B1
Tchem
Family: Enzyme
Novelty: 0.00188386
Score: 0.946
Data Source: STRINGDB
CYP24A1
Tchem
Family: Enzyme
Novelty: 0.00108437
Score: 0.946
Data Source: STRINGDB
POR
Tbio
Family: Enzyme
Novelty: 0.00165447
Score: 0.925
Data Source: STRINGDB
GC
Tchem
Novelty: 0.00077739
Score: 0.867
Data Source: STRINGDB
DHCR7
Tchem
Family: Enzyme
Novelty: 0.00335133
Score: 0.865
Data Source: STRINGDB
NADSYN1
Tbio
Family: Enzyme
Novelty: 0.05610136
Score: 0.839
Data Source: STRINGDB
VDR
Tclin
Family: NR
Novelty: 0.00022662
Score: 0.815
Data Source: STRINGDB
FABP9
Tbio
Novelty: 0.00713002
Score: 0.8
Data Source: STRINGDB
C10orf88
Tdark
Novelty: 0.68515498
Score: 0.669
Data Source: STRINGDB
PTH
Tbio
Novelty: 0.00003793
Score: 0.668
Data Source: STRINGDB
Publication Statistics
PubMed Score  118.52

PubMed score by year
PubTator Score  112.94

PubTator score by year
Amino Acid Sequence
Residue Counts
Sequence
MWKLWRAEEGAAALGGALFLLLFALGVRQLLKQRRPMGFPPGPPGLPFIGNIYSLAASSELPHVYMRKQS
1-70
QVYGEIFSLDLGGISTVVLNGYDVVKECLVHQSEIFADRPCLPLFMKMTKMGGLLNSRYGRGWVDHRRLA
70-140
VNSFRYFGYGQKSFESKILEETKFFNDAIETYKGRPFDFKQLITNAVSNITNLIIFGERFTYEDTDFQHM
140-210
IELFSENVELAASASVFLYNAFPWIGILPFGKHQQLFRNAAVVYDFLSRLIEKASVNRKPQLPQHFVDAY
210-280
LDEMDQGKNDPSSTFSKENLIFSVGELIIAGTETTTNVLRWAILFMALYPNIQGQVQKEIDLIMGPNGKP
280-350
SWDDKCKMPYTEAVLHEVLRFCNIVPLGIFHATSEDAVVRGYSIPKGTTVITNLYSVHFDEKYWRDPEVF
350-420
HPERFLDSSGYFAKKEALVPFSLGRRHCLGEHLARMEMFLFFTALLQRFHLHFPHELVPDLKPRLGMTLQ
420-490
PQPYLICAERR
490-501
MWKLWRAEEGAAALGGALFLLLFALGVRQLLKQRRPMGFPPGPPGLPFIGNIYSLAASSELPHVYMRKQSQVYGEIFSLDLGGISTVVLNGYDVVKECLVHQSEIFADRPCLPLFMKMTKMGGLLNSRYGRGWVDHRRLAVNSFRYFGYGQKSFESKILEETKFFNDAIETYKGRPFDFKQLITNAVSNITNLIIFGERFTYEDTDFQHMIELFSENVELAASASVFLYNAFPWIGILPFGKHQQLFRNAAVVYDFLSRLIEKASVNRKPQLPQHFVDAYLDEMDQGKNDPSSTFSKENLIFSVGELIIAGTETTTNVLRWAILFMALYPNIQGQVQKEIDLIMGPNGKPSWDDKCKMPYTEAVLHEVLRFCNIVPLGIFHATSEDAVVRGYSIPKGTTVITNLYSVHFDEKYWRDPEVFHPERFLDSSGYFAKKEALVPFSLGRRHCLGEHLARMEMFLFFTALLQRFHLHFPHELVPDLKPRLGMTLQPQPYLICAERR