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  5. 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial

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

Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-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 been found for this gene. [provided by RefSeq, Jul 2008]

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Property Summary

NCBI Gene PubMed Count 155
PubMed Score 753.37
PubTator Score 416.68

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
psoriasis 6685 3.4732854970166E-148
periodontitis 269 1.51164751325032E-28
non-small cell lung carcinoma 413 2.38518449698124E-15
lung adenocarcinoma 2714 1.3724729741815E-9
cystic fibrosis 1670 4.3250260547393E-7
lung cancer 4473 5.75311769700333E-7
malignant mesothelioma 3163 6.29430500175592E-6
Disease Target Count Z-score Confidence
Atopic dermatitis 944 0.0 2.0
Multiple Sclerosis 498 0.0 2.0
Disease Target Count
Hypercalcemia, infantile, 1 1

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma -2.900 0.000
cystic fibrosis -3.553 0.000
periodontitis 1.400 0.000
non-small cell lung carcinoma 2.300 0.000
lung cancer 4.800 0.000
lung adenocarcinoma 3.200 0.000
psoriasis 3.500 0.000

Synonym

Accession Q07973 Q15807 Q32ML3 Q5I2W7 24-OHase
Symbols CP24
HCAI
CYP24
HCINF1
P450-CC24

Gene

CYP24A1

PANTHER Protein Class (2)

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Anole lizard OMA EggNOG
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA Inparanoid

 GO Function (5)

 GO Component (5)

 GO Process (7)

 Compartment GO Term (62)

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 OMIM Term (1)

 MGI Term (5)

 GWAS Trait (2)

 HCA RNA Cell Line (41)

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Pathway (21)

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 UniProt Keyword (13)

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Drug (2)  

Structure of liarozole

liarozole
pIC50 8.64

Structure of ketoconazole

ketoconazole
pIC50 6.28

Ligand (41)  

Structure of CHEMBL363039

CHEMBL363039
pIC50 6.05

Structure of CHEMBL3344401

CHEMBL3344401
pKi 6.13

Structure of CHEMBL3344399

CHEMBL3344399
pKi 6.14

Structure of CHEMBL3344403

CHEMBL3344403
pKi 6.19

Structure of CHEMBL3329779

CHEMBL3329779
pIC50 6.22

Structure of CHEMBL1627205

CHEMBL1627205
pIC50 6.26

Structure of CHEMBL3344402

CHEMBL3344402
pKi 6.27

Structure of CHEMBL3344397

CHEMBL3344397
pIC50 6.28

Structure of CHEMBL3344396

CHEMBL3344396
pIC50 6.28

Structure of CHEMBL3329771

CHEMBL3329771
pIC50 6.29

Structure of CHEMBL3344393

CHEMBL3344393
pIC50 6.36

Structure of CHEMBL3329775

CHEMBL3329775
pKi 6.40

Structure of CHEMBL1171494

CHEMBL1171494
pIC50 6.40

Structure of CHEMBL3329776

CHEMBL3329776
pKi 6.42

Structure of CHEMBL3344392

CHEMBL3344392
pIC50 6.44

Structure of CHEMBL3329768

CHEMBL3329768
pIC50 6.47

Structure of CHEMBL3344398

CHEMBL3344398
pKi 6.47

Structure of CHEMBL3329767

CHEMBL3329767
pIC50 6.59

Structure of CHEMBL3344400

CHEMBL3344400
pKi 6.64

Structure of CHEMBL3329777

CHEMBL3329777
pKi 6.68

Gene RIF (137)

PMID Text
26997443 CYP24A1 expression is closely associated with colorectal cancer progression, and it might be a novel prognostic biomarker for CRC.
26766742 Results indicate that rs964293 modifies the association between estrogen and progestogen postmenopausal hormone replacement therapy and colorectal cancer risk. [Meta-Analysis]
26241700 The CYP24A1 SNP rs927650 may be related to both circulating blood concentrations of 25-hydroxyvitamin D as well as to odds of recurrent colorectal neoplasia.
26214117 CYP24A1 biallelic mutations are frequently found in patients presenting with hypercalcemia, low PTH, and renal disease. Haploinsufficiency is not associated with CYP24A1 deficiency.
26117226 most heterozygous CYP24A1 mutation carriers have a normal 25OHD/24,25(OH)2D ratio, are usually asymptomatic and have a normal skeletal status but may possibly be at increased risk of nephrocalcinosis
25727742 Human and rat CYP24A1 metabolize 20-hydroxyvitamin D3 to the same dihydroxyvitamin D3 products.
25596923 Data suggest that expression of CYP24A1 and cathelicidin is up-regulated in placental extravillous trophoblasts by vitamin D metabolites 1,23-dihydroxyvitamin D3 and 25-hydroxyvitamin D3.
25544771 Data show that cytochrome P450 CYP27B1 and CYP24A1 expression were significantly different between tumor and normal tissues in non-small cell lung cancer (NSCLC).
25488826 Vitamin D-binding protein SNPs are associated with prostate cancer; low 25(OH)D metabolism score and CYP24A1 and CYP27B1 variants are associated with grade
25446019 Hypercalcemia occurred during the sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.
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AA Sequence 

MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTSPQPREVPVCPLTAGGETQNAAALPGPTSWPLLGSL      1 - 70
LQILWKGGLKKQHDTLVEYHKKYGKIFRMKLGSFESVHLGSPCLLEALYRTESAYPQRLEIKPWKAYRDY     71 - 140
RKEGYGLLILEGEDWQRVRSAFQKKLMKPGEVMKLDNKINEVLADFMGRIDELCDERGHVEDLYSELNKW    141 - 210
SFESICLVLYEKRFGLLQKNAGDEAVNFIMAIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFK    211 - 280
SVKACIDNRLEKYSQQPSADFLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILYNLSRNPQVQQ    281 - 350
KLLKEIQSVLPENQVPRAEDLRNMPYLKACLKESMRLTPSVPFTTRTLDKATVLGEYALPKGTVLMLNTQ    351 - 420
VLGSSEDNFEDSSQFRPERWLQEKEKINPFAHLPFGVGKRMCIGRRLAELQLHLALCWIVRKYDIQATDN    421 - 490
EPVEMLHSGTLVPSRELPIAFCQR                                                  491 - 514
//

Text Mined References (157)

PMID Year Title
26997443 2016 CYP24A1 is a potential biomarker for the progression and prognosis of human colorectal cancer.
26766742 2016 CYP24A1 variant modifies the association between use of oestrogen plus progestogen therapy and colorectal cancer risk.
26241700 2015 CYP24A1 and CYP27B1 Polymorphisms, Concentrations of Vitamin D Metabolites, and Odds of Colorectal Adenoma Recurrence.
26214117 2015 CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.
26117226 2015 Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study.
25727742 2015 Metabolism of 20-hydroxyvitamin D3 and 20,23-dihydroxyvitamin D3 by rat and human CYP24A1.
25596923 2015 Vitamin D promotes human extravillous trophoblast invasion in vitro.
25544771 2015 Genetic polymorphisms in the vitamin D pathway in relation to lung cancer risk and survival.
25488826 2015 Associations of vitamin D pathway genes with circulating 25-hydroxyvitamin-D, 1,25-dihydroxyvitamin-D, and prostate cancer: a nested case-control study.
25446019 2015 Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.
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