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 hydroxylati... See more...

Aliases for CYP24A1 Gene

Aliases for CYP24A1 Gene

  • Cytochrome P450 Family 24 Subfamily A Member 1 2 3 5
  • Cytochrome P450, Subfamily XXIV (Vitamin D 24-Hydroxylase) 2 3
  • 1,25-Dihydroxyvitamin D(3) 24-Hydroxylase, Mitochondrial 3 4
  • Cytochrome P450, Family 24, Subfamily A, Polypeptide 1 2 3
  • Vitamin D(3) 24-Hydroxylase 3 4
  • Cytochrome P450 24A1 3 4
  • Cytochrome P450-CC24 3 4
  • 24-OHase 3 4
  • CYP24 3 4
  • 1,25-@Dihydroxyvitamin D3 24-Hydroxylase 3
  • Exo-Mitochondrial Protein 3
  • Vitamin D 24-Hydroxylase 3
  • EC 1.14.15.16 4
  • P450-CC24 3
  • HCINF1 3
  • CP24 3
  • HCAI 3

External Ids for CYP24A1 Gene

Previous HGNC Symbols for CYP24A1 Gene

  • CYP24

Previous GeneCards Identifiers for CYP24A1 Gene

  • GC20M052458
  • GC20M053408
  • GC20M053455
  • GC20M052203
  • GC20M052769
  • GC20M049516

Summaries for CYP24A1 Gene

Entrez Gene Summary for CYP24A1 Gene

  • 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]

GeneCards Summary for CYP24A1 Gene

CYP24A1 (Cytochrome P450 Family 24 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP24A1 include Hypercalcemia, Infantile, 1 and Idiopathic Infantile Hypercalcemia. Among its related pathways are Cytochrome P450 - arranged by substrate type and Parathyroid hormone synthesis, secretion and action. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and heme binding. An important paralog of this gene is CYP27A1.

UniProtKB/Swiss-Prot Summary for CYP24A1 Gene

  • A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)) (PubMed:24893882, PubMed:15574355, PubMed:8679605, PubMed:11012668, PubMed:16617161). With initial hydroxylation at C-24 (via C24-oxidation pathway), performs a sequential 6-step oxidation of calcitriol leading to the formation of the biliary metabolite calcitroic acid (PubMed:24893882, PubMed:15574355). With initial hydroxylation at C-23 (via C23-oxidation pathway), catalyzes sequential oxidation of calcidiol leading to the formation of 25(OH)D3-26,23-lactone as end product (PubMed:11012668, PubMed:8679605). Preferentially hydroxylates at C-25 other vitamin D active metabolites, such as CYP11A1-derived secosteroids 20S-hydroxycholecalciferol and 20S,23-dihydroxycholecalciferol (PubMed:25727742). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin (PubMed:8679605).

Gene Wiki entry for CYP24A1 Gene

Additional gene information for CYP24A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP24A1 Gene

Genomics for CYP24A1 Gene

GeneHancer (GH) Regulatory Elements for CYP24A1 Gene

Promoters and enhancers for CYP24A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J054173 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 510.2 0.0 -12 2.4 PHF8 ZIC2 NR3C1 ZBTB26 ZBTB25 SKI EZH2 ZNF341 MYNN CEBPB CYP24A1 RF02664 LOC105372675
GH20J054172 Enhancer 0.7 ENCODE dbSUPER 500.7 +1.4 1409 0.2 TCF12 NFXL1 POLR2A KLF1 EZH2 PRDM10 TAF1 SUZ12 ZNF600 CYP24A1 RF02664 piR-48325-104
GH20J054102 Enhancer 1.3 Ensembl ENCODE dbSUPER 16.5 +68.6 68570 6.7 EP300 FOXK2 CTCF ZSCAN5C TCF12 MYC POLR2G USF1 BCLAF1 NCOR1 CYP24A1 BCAS1 PFDN4 HSALNG0130972 lnc-CYP24A1-3
GH20J054194 Enhancer 1.1 Ensembl ENCODE 18.1 -21.6 -21609 2.1 EP300 FOXK2 TCF12 POLR2G USF1 NCOR1 BCLAF1 KDM6A TCF7 ZBTB25 CYP24A1 HSALNG0130979 PFDN4
GH20J054109 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 14.7 +63.6 63636 1.7 TEAD1 FOXA2 NFXL1 JUND GATA3 BCLAF1 CHD4 RARA KDM1A NR2F6 CYP24A1 PFDN4 HSALNG0130972 lnc-CYP24A1-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP24A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP24A1

Top Transcription factor binding sites by QIAGEN in the CYP24A1 gene promoter:
  • AML1a
  • AP-1
  • AREB6
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • CREB
  • deltaCREB
  • FOXD3
  • YY1

Genomic Locations for CYP24A1 Gene

Genomic Locations for CYP24A1 Gene
chr20:54,153,446-54,173,986
(GRCh38/hg38)
Size:
20,541 bases
Orientation:
Minus strand
chr20:52,769,988-52,790,516
(GRCh37/hg19)
Size:
20,529 bases
Orientation:
Minus strand

Genomic View for CYP24A1 Gene

Genes around CYP24A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP24A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP24A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP24A1 Gene

Proteins for CYP24A1 Gene

  • Protein details for CYP24A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07973-CP24A_HUMAN
    Recommended name:
    1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
    Protein Accession:
    Q07973
    Secondary Accessions:
    • Q15807
    • Q32ML3
    • Q5I2W7

    Protein attributes for CYP24A1 Gene

    Size:
    514 amino acids
    Molecular mass:
    58875 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 3]: Specifically expressed in macrophages. Lacks the transit peptide. May be a dominant negative-acting isoform possibly by sequestering vitamin D metabolites.

    Alternative splice isoforms for CYP24A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP24A1 Gene

Post-translational modifications for CYP24A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP24A1 Gene

No data available for DME Specific Peptides for CYP24A1 Gene

Domains & Families for CYP24A1 Gene

Gene Families for CYP24A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CYP24A1 Gene

Blocks:
  • CC24 mitochondrial P450 signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CYP24A1 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome P450-CC24 (CP24A_HUMAN)
  • Vitamin D 24-hydroxylase splice variant (Q5I2W7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q07973

UniProtKB/Swiss-Prot:

CP24A_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP24A1: view

Function for CYP24A1 Gene

Molecular function for CYP24A1 Gene

UniProtKB/Swiss-Prot Function:
A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)) (PubMed:24893882, PubMed:15574355, PubMed:8679605, PubMed:11012668, PubMed:16617161). With initial hydroxylation at C-24 (via C24-oxidation pathway), performs a sequential 6-step oxidation of calcitriol leading to the formation of the biliary metabolite calcitroic acid (PubMed:24893882, PubMed:15574355). With initial hydroxylation at C-23 (via C23-oxidation pathway), catalyzes sequential oxidation of calcidiol leading to the formation of 25(OH)D3-26,23-lactone as end product (PubMed:11012668, PubMed:8679605). Preferentially hydroxylates at C-25 other vitamin D active metabolites, such as CYP11A1-derived secosteroids 20S-hydroxycholecalciferol and 20S,23-dihydroxycholecalciferol (PubMed:25727742). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin (PubMed:8679605).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=calcitriol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = calcitetrol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:24964, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17823, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:47799; EC=1.14.15.16; Evidence={ECO:0000269 PubMed:15574355, ECO:0000269 PubMed:16617161, ECO:0000269 PubMed:21675912, ECO:0000269 PubMed:24893882, ECO:0000269 PubMed:8679605}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:24965; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=calcitetrol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = (1S)-1,25-dihydroxy-24-oxocalciol + 2 H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:24972, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:47799, ChEBI:CHEBI:47812; EC=1.14.15.16; Evidence={ECO:0000269 PubMed:16617161, ECO:0000269 PubMed:21675912, ECO:0000269 PubMed:24893882}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:24973; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(1S)-1,25-dihydroxy-24-oxocalciol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = (1S)-1,23,25-trihydroxy-24-oxocalciol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:24976, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:47812, ChEBI:CHEBI:47813; EC=1.14.15.16; Evidence={ECO:0000269 PubMed:16617161, ECO:0000269 PubMed:21675912, ECO:0000269 PubMed:24893882}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:24977; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(1S)-1,23-dihydroxy-24,25,26,27-tetranorcalciol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = (1S)-1-hydroxy-23-oxo-24,25,26,27-tetranorcalciol + 2 H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:24984, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:47818, ChEBI:CHEBI:47820; EC=1.14.15.16; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:24985; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(1S)-1-hydroxy-23-oxo-24,25,26,27-tetranorcalciol + H(+) + O2 + 2 reduced [adrenodoxin] = calcitroate + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:24988, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:47820, ChEBI:CHEBI:58715; EC=1.14.15.16; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:24989; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=calcitriol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = 1alpha,23S,25-trihydroxycholecalciferol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:49192, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17823, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:90970; Evidence={ECO:0000269 PubMed:16617161, ECO:0000269 PubMed:24893882}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:49193; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=calcidiol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = H2O + 2 oxidized [adrenodoxin] + secalciferol; Xref=Rhea:RHEA:24968, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17933, ChEBI:CHEBI:28818, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738; EC=1.14.15.16; Evidence={ECO:0000269 PubMed:11012668, ECO:0000269 PubMed:15574355, ECO:0000269 PubMed:24893882, ECO:0000269 PubMed:8679605}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:24969; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 H(+) + O2 + 2 reduced [adrenodoxin] + secalciferol = 25-hydroxy-24-oxocalciol + 2 H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:49196, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:28818, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:47805; Evidence={ECO:0000269 PubMed:11012668, ECO:0000269 PubMed:24893882, ECO:0000269 PubMed:8679605}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:49197; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=25-hydroxy-24-oxocalciol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = 23S,25-dihydroxy-24-oxocholecalciferol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:49268, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:47805, ChEBI:CHEBI:90980; Evidence={ECO:0000269 PubMed:11012668, ECO:0000269 PubMed:24893882, ECO:0000269 PubMed:8679605}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:49269; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=calcidiol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = (23S)-23,25-dihydroxycalciol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:46616, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17933, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:47214; Evidence={ECO:0000269 PubMed:11012668, ECO:0000269 PubMed:24893882, ECO:0000269 PubMed:8679605}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46617; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=20S-hydroxycholecalciferol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = 20S,25-dihydroxycholecalciferol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:49212, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:90983, ChEBI:CHEBI:90984; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:49213; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=20S-hydroxycholecalciferol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = 20S,24R-dihydroxycholecalciferol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:49204, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:90983, ChEBI:CHEBI:90985; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:49205; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=20S,23-dihydroxycholecalciferol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = 20S,23,25-trihydroxycholecalciferol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:49396, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:91306, ChEBI:CHEBI:91308; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:49397; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.16 uM for calcidiol {ECO:0000269 PubMed:11012668}; KM=0.072 uM for calcitriol {ECO:0000269 PubMed:11012668}; KM=0.35 uM for calcitriol {ECO:0000269 PubMed:16617161}; Vmax=0.088 mol/min/mol enzyme toward calcidiol {ECO:0000269 PubMed:11012668}; Vmax=0.066 mol/min/mol enzyme toward calcitriol {ECO:0000269 PubMed:11012668};

Enzyme Numbers (IUBMB) for CYP24A1 Gene

Phenotypes From GWAS Catalog for CYP24A1 Gene

Gene Ontology (GO) - Molecular Function for CYP24A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0008403 25-hydroxycholecalciferol-24-hydroxylase activity IEA --
GO:0016491 oxidoreductase activity NAS 7632726
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with CYP24A1: view
genes like me logo Genes that share phenotypes with CYP24A1: view

Human Phenotype Ontology for CYP24A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP24A1 Gene

MGI Knock Outs for CYP24A1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CYP24A1 Gene

Localization for CYP24A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP24A1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP24A1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
nucleus 4
extracellular 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nucleoplasm (2)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYP24A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with CYP24A1: view

Pathways & Interactions for CYP24A1 Gene

genes like me logo Genes that share pathways with CYP24A1: view

Pathways by source for CYP24A1 Gene

2 GeneGo (Thomson Reuters) pathways for CYP24A1 Gene
  • Transcription_Role of VDR in regulation of genes involved in osteoporosis
  • Vitamin D2 (ergocalciferol) metabolism

SIGNOR curated interactions for CYP24A1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CYP24A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEP 17023519
GO:0006766 vitamin metabolic process TAS --
GO:0033280 response to vitamin D IDA 16720713
GO:0042359 vitamin D metabolic process TAS --
GO:0042369 vitamin D catabolic process NAS 16720713
genes like me logo Genes that share ontologies with CYP24A1: view

Drugs & Compounds for CYP24A1 Gene

(35) Drugs for CYP24A1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcipotriol Approved Pharma Agonist, Enzyme, substrate Vitamin D3 analog,regulates cell differentiation and proliferation 0
Paricalcitol Approved, Investigational Pharma Enzyme, substrate Analog of VD2 active form 0
Calcitriol Approved Nutra Enzyme, substrate, inducer TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist 235
Calcium Approved Nutra 7884
Calcifediol Approved Nutra Enzyme, substrate Major circulating form of vitamin D3 148

(18) Additional Compounds for CYP24A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(24R)-24,25-Dihydroxycalciol
24-Hydroxycalcitriol
  • 1alpha,24R,25(OH)3D3
  • 1alpha,24R,25-Trihydroxycholecalciferol
  • 1alpha,24R,25-Trihydroxyvitamin D3
  • 1a,24R,25(OH)3D3
  • 1α,24R,25(OH)3D3
56142-94-0
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with CYP24A1: view

Transcripts for CYP24A1 Gene

mRNA/cDNA for CYP24A1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP24A1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c · 12d
SP1: - - - - -
SP2: - - - - - -
SP3: - - -
SP4:
SP5:
SP6:

Relevant External Links for CYP24A1 Gene

GeneLoc Exon Structure for
CYP24A1

Expression for CYP24A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYP24A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP24A1 Gene

This gene is overexpressed in Kidney - Cortex (x22.7) and Bladder (x8.1).

Protein differential expression in normal tissues from HIPED for CYP24A1 Gene

This gene is overexpressed in Fetal Liver (48.0) and Fetal heart (20.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYP24A1 Gene



Protein tissue co-expression partners for CYP24A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP24A1

SOURCE GeneReport for Unigene cluster for CYP24A1 Gene:

Hs.89663

Evidence on tissue expression from TISSUES for CYP24A1 Gene

  • Kidney(3)
  • Intestine(2.3)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP24A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • pituitary gland
  • skull
Thorax:
  • aorta
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • rectum
  • ureter
General:
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with CYP24A1: view

No data available for mRNA Expression by UniProt/SwissProt for CYP24A1 Gene

Orthologs for CYP24A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP24A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYP24A1 31
  • 99 (a)
OneToOne
LOC746729 30
  • 98.47 (n)
dog
(Canis familiaris)
Mammalia CYP24A1 31 30
  • 88.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CYP24A1 31 30
  • 87.33 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp24a1 17 31 30
  • 81.06 (n)
rat
(Rattus norvegicus)
Mammalia Cyp24a1 30
  • 79.83 (n)
oppossum
(Monodelphis domestica)
Mammalia CYP24A1 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP24A1 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP24A1 31 30
  • 70.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 77 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496967 30
  • 58.75 (n)
zebrafish
(Danio rerio)
Actinopterygii cyp24a1 31 30
  • 66.59 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008018 30
  • 47.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cyp12b2 30
  • 43.46 (n)
sad 31
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cyp-44A1 30
  • 42.25 (n)
Species where no ortholog for CYP24A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYP24A1 Gene

ENSEMBL:
Gene Tree for CYP24A1 (if available)
TreeFam:
Gene Tree for CYP24A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP24A1: view image

Paralogs for CYP24A1 Gene

Paralogs for CYP24A1 Gene

(5) SIMAP similar genes for CYP24A1 Gene using alignment to 1 proteins:

  • CP24A_HUMAN
genes like me logo Genes that share paralogs with CYP24A1: view

Variants for CYP24A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP24A1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
694500 Likely Pathogenic: Idiopathic hypercalcemia of infancy 54,173,577(-) C/A INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT
697436 Benign: not provided 54,157,195(-) G/A MISSENSE_VARIANT
697520 Benign: not provided 54,162,799(-) C/G MISSENSE_VARIANT
702411 Benign: not provided 54,169,599(-) C/T SYNONYMOUS_VARIANT
702572 Likely Benign: not provided 54,159,031(-) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CYP24A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CYP24A1 Gene

Variant ID Type Subtype PubMed ID
esv2762085 CNV loss 21179565
esv28399 CNV loss 19812545
esv3302779 CNV tandem duplication 20981092
esv3568071 CNV loss 25503493
nsv1058882 CNV loss 25217958
nsv1063981 CNV loss 25217958
nsv1149112 CNV insertion 26484159
nsv586224 CNV gain 21841781
nsv586281 CNV loss 21841781
nsv834010 CNV loss 17160897

Variation tolerance for CYP24A1 Gene

Residual Variation Intolerance Score: 87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.21; 62.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP24A1 Gene

Human Gene Mutation Database (HGMD)
CYP24A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP24A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP24A1 Gene

Disorders for CYP24A1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for CYP24A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypercalcemia, infantile, 1
  • hcinf1
idiopathic infantile hypercalcemia
  • iih
brody myopathy
  • brody disease
osteomalacia
  • adult rickets
nephrocalcinosis
  • hypercalcemic nephropathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP24A_HUMAN
  • Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880]: A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. {ECO:0000269 PubMed:21675912}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CYP24A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CYP24A1: view

No data available for Genatlas for CYP24A1 Gene

Publications for CYP24A1 Gene

  1. Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. (PMID: 19255064) Ahn J … Prostate, Lung, Colorectal and Ovarian Trial Project Team (Carcinogenesis 2009) 3 23 41 54
  2. Vitamin D pathway gene variants and prostate cancer risk. (PMID: 19454612) Holt SK … Stanford JL (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 23 41 54
  3. Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. (PMID: 17606874) Bailey R … Todd JA (Diabetes 2007) 3 23 41 54
  4. Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway. (PMID: 16600026) Wjst M … André E (Respiratory research 2006) 3 23 41 54
  5. Evidence for the activation of 1alpha-hydroxyvitamin D2 by 25-hydroxyvitamin D-24-hydroxylase: delineation of pathways involving 1alpha,24-dihydroxyvitamin D2 and 1alpha,25-dihydroxyvitamin D2. (PMID: 16516540) Masuda S … Jones G (Biochimica et biophysica acta 2006) 3 23 26 54

Products for CYP24A1 Gene

  • Boster Bio Antibodies for CYP24A1
  • Boster Bio ELISA Kits for CYP24A1

Sources for CYP24A1 Gene