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Tchem
CYP27A1
Sterol 26-hydroxylase, mitochondrial

Protein Summary
Description
Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3-25-hydroxylase activity. 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 mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000258415
  • ENSP00000258415
  • ENSG00000135929

Symbol
  • CYP27
  • CTX
  • CP27
  • CYP27
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
kinase perturbation
0.95
gene perturbation
0.8
molecular function
0.73
virus perturbation
0.72
disease
0.66


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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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
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
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: 1449.37   (req: < 5)
Gene RIFs: 68   (req: <= 3)
Antibodies: 233   (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: 1449.37   (req: >= 5)
Gene RIFs: 68   (req: > 3)
Antibodies: 233   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
Tchem

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

Active Ligands: 2
Tclin

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

Active Drug: 0
GWAS Traits (30)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
triglyceride measurement
5
3
6
94.2
balding measurement
2
3
3
94.1
hemoglobin measurement
2
2
2
88.4
high density lipoprotein cholesterol measurement
4
2
5
87.2
2
2
1
1.3
83.6
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
triglyceride measurement
6
94.2
balding measurement
3
94.1
hemoglobin measurement
2
88.4
high density lipoprotein cholesterol measurement
5
87.2
1
1.3
83.6
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
sterol 26-hydroxylase, mitochondrial
459951
Macaque
cytochrome P450, family 27, subfamily A, polypeptide 1
700192
Mouse
MGI:88594
104086
Rat
RGD:727915
301517
Dog
cytochrome P450 family 27 subfamily A member 1
VGNC:50342
610489
Species
Name
OMA
EggNOG
Inparanoid
Chimp
sterol 26-hydroxylase, mitochondrial
Macaque
cytochrome P450, family 27, subfamily A, polypeptide 1
Mouse
Rat
Dog
cytochrome P450 family 27 subfamily A member 1
Protein Structure (1 Structure, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q02318-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (27)
Bile acid and bile salt metabolism (R-HSA-194068)

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

Items per page:
1 – 5 of 16
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Bile acid and bile salt metabolism
Reactome
Biological oxidations
Reactome
Cytochrome P450 - arranged by substrate type
Reactome
Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX)
Reactome
Disease
Name
Explore in Pharos
Explore in Source
Bile acid and bile salt metabolism
Biological oxidations
Cytochrome P450 - arranged by substrate type
Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX)
Disease
Gene Ontology Terms (9)
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Traceable Author Statement (TAS)
Reactome
Inferred from Electronic Annotation (IEA)
InterPro
Inferred from Electronic Annotation (IEA)
InterPro
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (97)
1 – 10 of 97
CYP7A1
Tchem
Family:  Enzyme
Novelty:  0.00148194
Score:  0.987
Data Source:  STRINGDB
CH25H
Tbio
Family:  Enzyme
Novelty:  0.01620877
Score:  0.958
Data Source:  STRINGDB
CYP46A1
Tchem
Family:  Enzyme
Novelty:  0.01549935
Score:  0.941
Data Source:  STRINGDB
CYP7B1
Tbio
Family:  Enzyme
Novelty:  0.01164653
Score:  0.94
Data Source:  STRINGDB
SLC27A5
Tbio
Family:  Transporter
Novelty:  0.01631425
Score:  0.939
Data Source:  STRINGDB
DHCR7
Tchem
Family:  Enzyme
Novelty:  0.00358937
Score:  0.921
Data Source:  STRINGDB
AKR1C4
Tchem
Family:  Enzyme
Novelty:  0.00925635
Score:  0.914
Data Source:  STRINGDB
FASN
Tchem
Family:  Enzyme
Novelty:  0.00142172
Score:  0.892
Data Source:  STRINGDB
LIPA
Tchem
Family:  Enzyme
Novelty:  0.00164907
Score:  0.869
Data Source:  STRINGDB
CCT3
Tbio
Novelty:  0.01642521
Score:  0.868
Data Source:  STRINGDB
Publication Statistics
PubMed Score  1449.37

PubMed score by year
PubTator Score  884.88

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