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CYP24A1 cytochrome P450 family 24 subfamily A member 1 [ Homo sapiens (human) ]

Gene ID: 1591, updated on 2-Nov-2024

Summary

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Official Symbol
CYP24A1provided by HGNC
Official Full Name
cytochrome P450 family 24 subfamily A member 1provided by HGNC
Primary source
HGNC:HGNC:2602
See related
Ensembl:ENSG00000019186 MIM:126065; AllianceGenome:HGNC:2602
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CP24; HCAI; CYP24; HCINF1; P450-CC24
Summary
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]
Expression
Biased expression in urinary bladder (RPKM 21.5), endometrium (RPKM 10.7) and 2 other tissues See more
Orthologs
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Genomic context

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See CYP24A1 in Genome Data Viewer
Location:
20q13.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (54143538..54173986, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (55917843..55948320, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (52769985..52790525, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18139 Neighboring gene brain enriched myelin associated protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:52685852-52686726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13053 Neighboring gene NANOG hESC enhancer GRCh37_chr20:52697269-52697770 Neighboring gene microRNA 4756 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:52740093-52740898 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:52755491-52756690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:52790155-52790748 Neighboring gene uncharacterized LOC105372675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18140 Neighboring gene uncharacterized LOC124904937 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr20:52824023-52824840 and GRCh37_chr20:52824841-52825657

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Associations of CYP24A1 copy number variation with vitamin D deficiency and insulin secretion. Li X, et al. Appl Physiol Nutr Metab, 2019 Dec. PMID 31112659
  2. Differential vitamin D 24-hydroxylase/CYP24A1 gene promoter methylation in endothelium from benign and malignant human prostate. Deeb KK, et al. Epigenetics, 2011 Aug. PMID 21725204, Free PMC Article
  3. Bioengineering anabolic vitamin D-25-hydroxylase activity into the human vitamin D catabolic enzyme, cytochrome P450 CYP24A1, by a V391L mutation. Kaufmann M, et al. J Biol Chem, 2011 Aug 19. PMID 21697097, Free PMC Article
  4. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. Schlingmann KP, et al. N Engl J Med, 2011 Aug 4. PMID 21675912
  5. Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia. Molin A, et al. Eur J Med Genet, 2019 Nov. PMID 30423445

See all (271) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CYP24A1 affected macrophage polarization through degradation of vitamin D as a candidate biomarker for ovarian cancer prognosis.
    Title: CYP24A1 affected macrophage polarization through degradation of vitamin D as a candidate biomarker for ovarian cancer prognosis.
  2. Zika virus infection suppresses CYP24A1 and CAMP expression in human monocytes.
    Title: Zika virus infection suppresses CYP24A1 and CAMP expression in human monocytes.
  3. Gene expression profiling of vitamin D metabolism enzymes in leukemia and lymphoma patients: molecular aspect interplay of VDR, CYP2R1, and CYP24A1.
    Title: Gene expression profiling of vitamin D metabolism enzymes in leukemia and lymphoma patients: molecular aspect interplay of VDR, CYP2R1, and CYP24A1.
  4. MicroRNA-125b regulates vitamin D resistance by targeting CYP24A1 in the progression of gestational diabetes mellitus.
    Title: MicroRNA-125b regulates vitamin D resistance by targeting CYP24A1 in the progression of gestational diabetes mellitus.
  5. Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
    Title: Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
  6. Genetic polymorphisms of CYP24A1 gene and cancer susceptibility: a meta-analysis including 40640 subjects.
    Title: Genetic polymorphisms of CYP24A1 gene and cancer susceptibility: a meta-analysis including 40640 subjects.
  7. Local production of active vitamin D3 metabolites in breast cancer cells by CYP24A1 and CYP27B1.
    Title: Local production of active vitamin D(3) metabolites in breast cancer cells by CYP24A1 and CYP27B1.
  8. Circular RNA Circ_0005962 Contributes to Lung Adenocarcinoma Cell Proliferation and Stem Cell Formation Through Sponging of miR-3611 and Modulating CYP24A1 Expression.
    Title: Circular RNA Circ_0005962 Contributes to Lung Adenocarcinoma Cell Proliferation and Stem Cell Formation Through Sponging of miR-3611 and Modulating CYP24A1 Expression.
  9. USP11-mediated LSH deubiquitination inhibits ferroptosis in colorectal cancer through epigenetic activation of CYP24A1.
    Title: USP11-mediated LSH deubiquitination inhibits ferroptosis in colorectal cancer through epigenetic activation of CYP24A1.
  10. Suppression of the vitamin D metabolizing enzyme CYP24A1 provides increased sensitivity to chemotherapeutic drugs in breast cancer.
    Title: Suppression of the vitamin D metabolizing enzyme CYP24A1 provides increased sensitivity to chemotherapeutic drugs in breast cancer.
Submit: New GeneRIF Correction See all GeneRIFs (222)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hypercalcemia, infantile, 1
MedGen: C4310232 OMIM: 143880 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
EBI GWAS Catalog
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC126273, MGC126274

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity TAS
Traceable Author Statement
more info
  
enables 25-hydroxycholecalciferol-23-hydroxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 25-hydroxycholecalciferol-24-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 25-hydroxycholecalciferol-24-hydroxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables heme binding TAS
Traceable Author Statement
more info
 PubMed 
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables vitamin D 25-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables vitamin D 25-hydroxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in osteoblast differentiation IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in response to vitamin D IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to vitamin D IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vitamin D catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vitamin D catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vitamin D catabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in vitamin D metabolic process TAS
Traceable Author Statement
more info
  
involved_in vitamin D receptor signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in vitamin metabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 

General protein information

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Preferred Names
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
Names
1,25-@dihydroxyvitamin D3 24-hydroxylase
24-OHase
cytochrome P450 24A1
cytochrome P450, family 24, subfamily A, polypeptide 1
cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)
cytochrome P450-CC24
exo-mitochondrial protein
lncBCAS1-4_1
vitamin D 24-hydroxylase
vitamin D(3) 24-hydroxylase
NP_000773.2
NP_001122387.1
NP_001411269.1
NP_001411270.1
NP_001411271.1
NP_001411272.1
XP_016883181.1
XP_047295892.1
XP_047295894.1
XP_054179076.1
XP_054179077.1
XP_054179080.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008334.2 RefSeqGene

    Range
    5000..25540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000782.5 → NP_000773.2  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_000773.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL138805, AW022349, BC109083, BI491491, CN311231, L13286
    Consensus CDS
    CCDS33491.1
    UniProtKB/Swiss-Prot
    Q07973, Q15807, Q32ML3, Q5I2W7
    Related
    ENSP00000216862.3, ENST00000216862.8
    Conserved Domains (1) summary
    pfam00067
    Location:59 → 512
    p450; Cytochrome P450

  2. NM_001128915.2 → NP_001122387.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001122387.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a coding exon in the 3' region, but the reading frame is not changed, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AL138805, AW022349, BC109083, BI491491, CN311231
    Consensus CDS
    CCDS46616.1
    UniProtKB/Swiss-Prot
    Q07973
    Related
    ENSP00000379285.3, ENST00000395955.7
    Conserved Domains (1) summary
    pfam00067
    Location:59 → 414
    p450; Cytochrome P450

  3. NM_001424340.1 → NP_001411269.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL138805
    UniProtKB/Swiss-Prot
    Q07973, Q15807, Q32ML3, Q5I2W7

  4. NM_001424341.1 → NP_001411270.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL138805
    UniProtKB/Swiss-Prot
    Q07973, Q15807, Q32ML3, Q5I2W7

  5. NM_001424342.1 → NP_001411271.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AL138805

  6. NM_001424343.1 → NP_001411272.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AL138805

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    54143538..54173986 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027692.3 → XP_016883181.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q07973, Q15807, Q32ML3, Q5I2W7
    Conserved Domains (1) summary
    pfam00067
    Location:59 → 512
    p450; Cytochrome P450

  2. XM_047439938.1 → XP_047295894.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2

  3. XM_047439936.1 → XP_047295892.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    55917843..55948320 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323101.1 → XP_054179076.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q07973, Q15807, Q32ML3, Q5I2W7

  2. XM_054323105.1 → XP_054179080.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2

  3. XM_054323102.1 → XP_054179077.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q07973.2 GenPept UniProtKB/Swiss-Prot:Q07973

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