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Tchem
CYP24A1
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial

Protein Summary
Description
Has a role in maintaining calcium homeostasis. Catalyzes the adrenodoxin-dependent 24-hydroxylation of calcidiol (25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product. 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 initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000216862
  • ENSP00000216862
  • ENSG00000019186
  • ENST00000395954
  • ENSP00000379284
  • ENST00000395955
  • ENSP00000379285

Symbol
  • CYP24
  • CP24
  • HCAI
  • CYP24
  • HCINF1
  • P450-CC24
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
gene perturbation
0.91
biological term
0.81
pathway
0.81
PubMedID
0.78
disease
0.72


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: 1015.56   (req: < 5)
Gene RIFs: 148   (req: <= 3)
Antibodies: 296   (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: 1015.56   (req: >= 5)
Gene RIFs: 148   (req: > 3)
Antibodies: 296   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12
Tchem

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

Active Ligands: 44
Tclin

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

Active Drug: 0
Active Ligands (44)
1 – 10 of 44
CHEMBL295698
chemical structure image
CHEMBL389433
chemical structure image
CHEMBL255088
chemical structure image
CHEMBL253613
chemical structure image
CHEMBL389014
chemical structure image
CHEMBL1253946
chemical structure image
CHEMBL363039
chemical structure image
CHEMBL3344401
chemical structure image
CHEMBL3344399
chemical structure image
CHEMBL3344403
chemical structure image
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
vitamin D measurement
3
2
3
97.7
3
2
0
1.1
82.5
calcium measurement
1
1
1
64.6
creatinine measurement
1
1
1
1.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
vitamin D measurement
3
97.7
0
1.1
82.5
calcium measurement
1
64.6
creatinine measurement
1
1.7
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
cytochrome P450 family 24 subfamily A member 1
VGNC:9835
746729
Macaque
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
698937
Mouse
MGI:88593
13081
Rat
RGD:2462
25279
Dog
cytochrome P450 family 24 subfamily A member 1
VGNC:50338
485935
Species
Name
OMA
EggNOG
Inparanoid
Chimp
cytochrome P450 family 24 subfamily A member 1
Macaque
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
Mouse
Rat
Dog
cytochrome P450 family 24 subfamily A member 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q07973-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (78)
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 CYP24A1 causes Hypercalcemia, infantile (HCAI)
Reactome
Disease
Reactome
Diseases of metabolism
Name
Explore in Pharos
Explore in Source
Biological oxidations
Cytochrome P450 - arranged by substrate type
Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)
Disease
Diseases of metabolism
Gene Ontology Terms (17)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Traceable Author Statement (TAS)
UniProtKB
Non-traceable Author Statement (NAS)
UniProtKB
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (72)
1 – 10 of 72
ZNF254
Tdark
Family: TF
Novelty: 0.76070543
p_int: 0.983507538
p_ni: 0.000153926
p_wrong: 0.016338535
Score: 0.421
Data Source: BioPlex,STRINGDB
RBAK
Tbio
Family: TF
Novelty: 0.12597665
p_int: 0.963564003
p_ni: 6.76e-7
p_wrong: 0.036435321
Data Source: BioPlex
ZNF785
Tdark
Family: TF
Novelty: 0.42629766
p_int: 0.925731724
p_ni: 0.000056242
p_wrong: 0.074212034
Score: 0.193
Data Source: BioPlex,STRINGDB
ZNF764
Tdark
Family: TF
Novelty: 0.76308829
p_int: 0.837609142
p_ni: 0.000040687
p_wrong: 0.162350171
Score: 0.196
Data Source: BioPlex,STRINGDB
CYP2R1
Tbio
Family: Enzyme
Novelty: 0.00566372
Score: 0.946
Data Source: STRINGDB
CYP27B1
Tchem
Family: Enzyme
Novelty: 0.00147574
Score: 0.925
Data Source: STRINGDB
VDR
Tclin
Family: NR
Novelty: 0.00058366
Score: 0.917
Data Source: STRINGDB
FGF23
Tclin
Novelty: 0.00047318
Score: 0.864
Data Source: STRINGDB
CA1
Tclin
Family: Enzyme
Novelty: 0.00055482
Score: 0.836
Data Source: STRINGDB
CA5B
Tclin
Family: Enzyme
Novelty: 0.01741841
Score: 0.836
Data Source: STRINGDB
Publication Statistics
PubMed Score  1015.56

PubMed score by year
PubTator Score  675.83

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