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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
  • 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
  • Exo-Mitochondrial Protein 3
  • Vitamin D 24-Hydroxylase 3
  • 1,25- D3 24-Hydroxylase 3
  • EC 1.14.13.126 4
  • P450-CC24 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 and Hypercalcemia. Among its related pathways are Vitamin D synthesis and Phase II conjugation. GO annotations related to this gene include oxidoreductase activity and heme binding. An important paralog of this gene is CYP11B1.

UniProtKB/Swiss-Prot for CYP24A1 Gene

  • 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.

Gene Wiki entry for CYP24A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP24A1 Gene

Genomics for CYP24A1 Gene

Regulatory Elements for CYP24A1 Gene

Enhancers for CYP24A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CYP24A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP24A1 Gene

Chromosome:
20
Start:
54,153,449 bp from pter
End:
54,173,985 bp from pter
Size:
20,537 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

    Alternative splice isoforms for CYP24A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP24A1 Gene

Proteomics data for CYP24A1 Gene at MOPED

Post-translational modifications for CYP24A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP24A1 Gene

Antibody Products

No data available for DME Specific Peptides for CYP24A1 Gene

Domains & Families for CYP24A1 Gene

Gene Families for CYP24A1 Gene

Protein Domains for CYP24A1 Gene

Suggested Antigen Peptide Sequences for CYP24A1 Gene

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 CatalyticActivity:
Calcitriol + NADPH + O(2) = calcitetrol + NADP(+) + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
Calcidiol + NADPH + O(2) = secalciferol + NADP(+) + H(2)O.
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for CYP24A1 Gene

Gene Ontology (GO) - Molecular Function for CYP24A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity NAS 7632726
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

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
Jensen Localization Image for CYP24A1 Gene COMPARTMENTS Subcellular localization image for CYP24A1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 4
chloroplast 2
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for CYP24A1 Gene

Pathways & Interactions for CYP24A1 Gene

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

Gene Ontology (GO) - Biological Process for CYP24A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic 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
GO:0070561 vitamin D receptor signaling pathway NAS 16720713
genes like me logo Genes that share ontologies with CYP24A1: view

No data available for SIGNOR curated interactions for CYP24A1 Gene

Drugs & Compounds for CYP24A1 Gene

(21) Drugs for CYP24A1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcipotriol Approved Pharma Agonist, Enzyme, substrate Vitamin D3 analog 0
Paricalcitol Approved, Investigational Pharma Enzyme, substrate 0
Calcitriol Approved Nutra Enzyme, substrate, inducer TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist 191
Calcidiol Approved Nutra Enzyme, substrate 0
Ergocalciferol Approved Nutra Enzyme, substrate 1192

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(24R)-24,25-Dihydroxycalciol
24-Hydroxycalcitriol
  • (1-alpha,3-beta,5Z,7E,24R)-10-Secocholesta-5,7,10(19)-triene-1,3,24,25-tetrol
  • (1-alpha,3-beta,5Z,7E,24R)-9,10-Secocholesta-5,7,10(19)-triene-1,3,24,25-tetrol
  • (24R)-24-Hydroxycalcitriol
  • 1-alpha,24(R),25-Trihydroxyvitamin D3
  • 1-alpha,24R,25-Trihydroxyvitamin D3
56142-94-0
Ercalcitriol
  • 1,25-Dihydroxycalciferol
  • 1,25-Dihydroxyergocalciferol
  • 1,25-Dihydroxyvitamin D2
  • 1a,25-Dihydroxycalciferol
  • 1a,25-Dihydroxyergocalciferol
60133-18-8
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with CYP24A1: view

Transcripts for CYP24A1 Gene

Unigene Clusters for CYP24A1 Gene

Cytochrome P450, family 24, subfamily A, polypeptide 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
CYP24A1

Expression for CYP24A1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for CYP24A1 Gene



SOURCE GeneReport for Unigene cluster for CYP24A1 Gene Hs.89663

genes like me logo Genes that share expression patterns with CYP24A1: view

Protein tissue co-expression partners for CYP24A1 Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia CYP24A1 35
  • 87.33 (n)
  • 86.67 (a)
CYP24A1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP24A1 35
  • 88.33 (n)
  • 89.3 (a)
CYP24A1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp24a1 35
  • 81.06 (n)
  • 82.88 (a)
Cyp24a1 16
Cyp24a1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC746729 35
  • 98.47 (n)
  • 97.83 (a)
CYP24A1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp24a1 35
  • 79.83 (n)
  • 83.07 (a)
oppossum
(Monodelphis domestica)
Mammalia CYP24A1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP24A1 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP24A1 35
  • 70.84 (n)
  • 71.87 (a)
CYP24A1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 77 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496967 35
  • 58.75 (n)
  • 54.68 (a)
zebrafish
(Danio rerio)
Actinopterygii cyp24a1 35
  • 66.59 (n)
  • 70.33 (a)
cyp24a1 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008018 35
  • 47.02 (n)
  • 33.72 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cyp12b2 35
  • 43.46 (n)
  • 28.38 (a)
sad 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cyp-44A1 35
  • 42.25 (n)
  • 30.84 (a)
Species with no ortholog for CYP24A1:
  • 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)

Paralogs for CYP24A1 Gene

Paralogs for CYP24A1 Gene

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

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

Variants for CYP24A1 Gene

Sequence variations from dbSNP and Humsavar for CYP24A1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs35051736 - 54,171,650(-) GCAGM(A/G)GGTCC reference, missense
rs6022990 - 54,158,993(+) ACGGC(A/G)TATTC reference, missense
rs6068812 Hypercalcemia infantile (HCAI) 54,158,096(+) TGGGT(A/G)AAGCA reference, missense
VAR_066409 Hypercalcemia infantile (HCAI)
VAR_066410 Hypercalcemia infantile (HCAI)

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

Variant ID Type Subtype PubMed ID
nsv912945 CNV Loss 21882294
nsv912946 CNV Loss 21882294
nsv834010 CNV Loss 17160897
esv28399 CNV Loss 19812545
esv259753 OTHER Complex 20981092

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)

Relevant External Links for CYP24A1 Gene

Human Gene Mutation Database (HGMD)
CYP24A1

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

Disorders for CYP24A1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for CYP24A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypercalcemia, infantile
  • idiopathic hypercalcemia of infancy
hypercalcemia
autosomal recessive infantile hypercalcemia
  • familial infantile hypercalcemia with suppressed intact parathyroid hormone
nephrocalcinosis
  • hypercalcemic nephropathy
osteomalacia
  • adult rickets
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP24A_HUMAN
  • Hypercalcemia infantile (HCAI) [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.

Relevant External Links for CYP24A1

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

No data available for Genatlas for CYP24A1 Gene

Publications for CYP24A1 Gene

  1. 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. (Biochim. Biophys. Acta 2006) 3 23 25 26
  2. Alternative splicing of vitamin D-24-hydroxylase: a novel mechanism for the regulation of extrarenal 1,25-dihydroxyvitamin D synthesis. (PMID: 15788398) Ren S. … Hewison M. (J. Biol. Chem. 2005) 3 4 23 67
  3. [Recent studies on vitamin D metabolizing enzymes]. (PMID: 16816472) Sakaki T. (Clin Calcium 2006) 23 25 26
  4. Hepatic activation and inactivation of clinically-relevant vitamin D analogs and prodrugs. (PMID: 16886668) Jones G. … Mehta R. (Anticancer Res. 2006) 23 25 26
  5. Metabolism of vitamin D3 by cytochromes P450. (PMID: 15574355) Sakaki T. … Inouye K. (Front. Biosci. 2005) 23 25 26

Products for CYP24A1 Gene

Sources for CYP24A1 Gene

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