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Tchem
CYP27B1
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

Protein Summary
Description
Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D3) to 1-alpha,25-dihydroxyvitamin D3 (1alpha,25(OH)(2)D3), and of 24,25-dihydroxyvitamin D3 (24,25(OH)(2)D3) to 1-alpha,24,25-trihydroxyvitamin D3 (1alpha,24,25(OH)(3)D3). Is also active with 25-hydroxy-24-oxo-vitamin D3. Plays an important role in normal bone growth, calcium metabolism, and tissue differentiation. 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. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000228606
  • ENSP00000228606
  • ENSG00000111012

Symbol
  • CYP1ALPHA
  • CYP27B
  • VDR
  • CP2B
  • CYP1
  • PDDR
  • VDD1
  • VDDR
  • VDDRI
  • CYP27B
  • P450c1
  • CYP1alpha
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0.98
biological term
0.82
disease
0.82
PubMedID
0.7
cellular component
0.67


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 679.57   (req: < 5)
Gene RIFs: 137   (req: <= 3)
Antibodies: 120   (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: 679.57   (req: >= 5)
Gene RIFs: 137   (req: > 3)
Antibodies: 120   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 23
Tchem

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

Active Ligands: 3
Tclin

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

Active Drug: 0
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
1
1
0
1.2
67.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.2
67.1
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
cytochrome P450 family 27 subfamily B member 1
VGNC:8392
452027
Macaque
cytochrome P450, family 27, subfamily B, polypeptide 1
715747
Mouse
MGI:1098274
13115
Rat
RGD:69192
114700
Dog
cytochrome P450 family 27 subfamily B member 1
VGNC:50343
481133
Species
Name
OMA
EggNOG
Inparanoid
Chimp
cytochrome P450 family 27 subfamily B member 1
Macaque
cytochrome P450, family 27, subfamily B, polypeptide 1
Mouse
Rat
Dog
cytochrome P450 family 27 subfamily B member 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-O15528-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (25)
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 CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)
Reactome
Disease
Reactome
Diseases of metabolism
Name
Explore in Pharos
Explore in Source
Biological oxidations
Cytochrome P450 - arranged by substrate type
Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)
Disease
Diseases of metabolism
Gene Ontology Terms (26)
Items per page:
10
1 – 3 of 3
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Electronic Annotation (IEA)
InterPro
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (65)
1 – 10 of 65
PSMG3
Tchem
Novelty: 0.01730294
p_int: 0.927736468
p_ni: 0.023783959
p_wrong: 0.048479573
Data Source: BioPlex
CLPX
Tbio
Family: Enzyme
Novelty: 0.00254331
p_int: 0.834230208
p_ni: 0.165769792
Data Source: BioPlex
FAM192A
Tdark
Novelty: 0.46220707
p_int: 0.765425064
p_ni: 0.234574925
p_wrong: 1.2e-8
Data Source: BioPlex
FGF23
Tclin
Novelty: 0.00047318
Score: 0.948
Data Source: STRINGDB
CYP2R1
Tbio
Family: Enzyme
Novelty: 0.00566372
Score: 0.946
Data Source: STRINGDB
POR
Tbio
Family: Enzyme
Novelty: 0.00145147
Score: 0.929
Data Source: STRINGDB
VDR
Tclin
Family: NR
Novelty: 0.00058366
Score: 0.927
Data Source: STRINGDB
CYP24A1
Tchem
Family: Enzyme
Novelty: 0.00107155
Score: 0.925
Data Source: STRINGDB
PTH
Tbio
Novelty: 0.00003263
Score: 0.91
Data Source: STRINGDB
GC
Tchem
Novelty: 0.00065382
Score: 0.819
Data Source: STRINGDB
Publication Statistics
PubMed Score  679.57

PubMed score by year
PubTator Score  448.6

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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