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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


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: 517.95   (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: 517.95   (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
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: 0.02862595
p_int: 0.927736468
p_ni: 0.023783959
p_wrong: 0.048479573
Data Source: BioPlex
CLPX
Tbio
Family: Enzyme
Novelty: 0.00457158
p_int: 0.834230208
p_ni: 0.165769792
Data Source: BioPlex
FAM192A
Tdark
Novelty: 0.47368421
p_int: 0.765425064
p_ni: 0.234574925
p_wrong: 1.2e-8
Data Source: BioPlex
FGF23
Tclin
Novelty: 0.00057077
Score: 0.948
Data Source: STRINGDB
CYP2R1
Tbio
Family: Enzyme
Novelty: 0.00912049
Score: 0.946
Data Source: STRINGDB
POR
Tbio
Family: Enzyme
Novelty: 0.00165447
Score: 0.929
Data Source: STRINGDB
VDR
Tclin
Family: NR
Novelty: 0.00022662
Score: 0.927
Data Source: STRINGDB
CYP24A1
Tchem
Family: Enzyme
Novelty: 0.00108437
Score: 0.925
Data Source: STRINGDB
PTH
Tbio
Novelty: 0.00003793
Score: 0.91
Data Source: STRINGDB
GC
Tchem
Novelty: 0.00077739
Score: 0.819
Data Source: STRINGDB
Publication Statistics
PubMed Score  517.95

PubMed score by year
PubTator Score  448.6

PubTator score by year
Amino Acid Sequence
Residue Counts
Sequence
MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAA
1-70
HFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSL
70-140
LAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCL
140-210
EAQVPPDTETFIRAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNG
210-280
GQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAA
280-350
LSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPA
350-420
QFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQPEPGAAPVRPK
420-490
TRTVLVPERSINLQFLDR
490-508
MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQPEPGAAPVRPKTRTVLVPERSINLQFLDR