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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP24A1 Gene

protein-coding   GIFtS: 65
GCID: GC20M052769

cytochrome P450, family 24, subfamily A, polypeptide 1

(Previous names: cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)...)
(Previous symbol: CYP24)
 Explore 48 diseases affiliated with
CYP24A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CYP24A1    

Aliases
for CYP24A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cytochrome P450, Family 24, Subfamily A, Polypeptide 11 2     24-OHase2 3
CYP241 2 3 5     1,25-@Dihydroxyvitamin D3 24-Hydroxylase2
CP241 2     1,25-Dihydroxyvitamin D(3) 24-Hydroxylase, Mitochondrial2
P450-CC241 2     HCAI2
Cytochrome P450, Subfamily XXIV (Vitamin D 24-Hydroxylase)1 2     Exo-Mitochondrial Protein2
Cytochrome P450 24A12 3     Vitamin D 24-Hydroxylase2
Cytochrome P450-CC242 3     EC 1.14.13.1263
Vitamin D(3) 24-Hydroxylase2 3     

External Ids:    HGNC: 26021   Entrez Gene: 15912   Ensembl: ENSG000000191867   OMIM: 1260655   UniProtKB: Q079733   

Export aliases for CYP24A1 gene to outside databases

Previous GC identifers: GC20M052458 GC20M053408 GC20M053455 GC20M052203 GC20M049516


Summaries
for CYP24A1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CYP24A1:
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)

UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973
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

Gene Wiki entry for CYP24A1


Genomic Views
for CYP24A1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CYP24A1 gene promoter:
         AML1a   AP-1   ATF-2   FOXD3   YY1   C/EBPalpha   CREB   AREB6   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CYP24A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CYP24A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP24A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13   Ensembl cytogenetic band:  20q13.2   HGNC cytogenetic band: 20q13.2-q13.3

CYP24A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP24A1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M052769:  view genomic region     (about GC identifiers)

Start:
 52,769,988 bp from pter      End:
 52,790,516 bp from pter
Size:
 20,529 bases      Orientation:
 minus strand

Proteins
for CYP24A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973 (See protein sequence)
Recommended Name: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial precursor  
Size: 514 amino acids; 58875 Da
Cofactor: Heme group (By similarity)
Subcellular location: Mitochondrion
Secondary accessions: Q15807 Q32ML3
Alternative splicing: 2 isoforms:  Q07973-1   Q07973-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP24A1: NX_Q07973

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q07973

    • CYP24A1 Protein expression data from MOPED and PaxDb:    About this image 
    CYP24A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000773.2  NP_001122387.1  

    ENSEMBL proteins: 
     ENSP00000216862   ENSP00000379285   ENSP00000379284  
    Reactome Protein details: Q07973
    Human Recombinant Protein Products for CYP24A1: 
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    Novus Biologicals CYP24A1 Protein
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    Uscn Proteins for CYP24A1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--

    CYP24A1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CYP24A1

    Protein Domains /
    Families
    for CYP24A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CYP24A1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I

    Graphical View of Domain Structure for InterPro Entry Q07973

    ProtoNet protein and cluster: Q07973

    1 Blocks protein family: IPB002949 CC24 mitochondrial P450 signature

    UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973
    Similarity: Belongs to the cytochrome P450 family


    Function
    for CYP24A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP24A_HUMAN, Q07973
    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
    Catalytic activity: Calcitriol + NADPH + O(2) = calcitetrol + NADP(+) + H(2)O
    Catalytic activity: Calcidiol + NADPH + O(2) = secalciferol + NADP(+) + H(2)O

         Enzyme Number (IUBMB): EC 1.14.13.1261

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity ----
    GO:0005506iron ion binding IEA--
    GO:000840325-hydroxycholecalciferol-24-hydroxylase activity IEA--
    GO:0009055electron carrier activity IEA--
    GO:0016491oxidoreductase activity NAS7632726
         
    CYP24A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CYP24A1:
     Cell cycle / mitosis defect 

         6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cyp24a1):
     growth/size  homeostasis/metabolism  mortality/aging  renal/urinary system  reproductive system 
     skeleton 

    CYP24A1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Cyp24a1tm1Star for CYP24A1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CYP24A1 

    miRNA
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    hsa-mir-125b (MIRT004408)

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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate CYP24A1 (see all 16):
    hsa-miR-3671 hsa-miR-30c hsa-miR-125a-5p hsa-miR-571 hsa-miR-30d hsa-miR-3144-3p hsa-miR-374a* hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmid: CYP24A1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CYP24A1 (see all 7)
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CYP24A1 
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP24A1 (see all 4)
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    In Situ Assay
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    Pathways & Interactions
    for CYP24A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Vitamin D2 (ergocalciferol) metabolism
    		Vitamin D2 (ergocalciferol) metabolism1.00
    		Vitamin D synthesis0.40
    		Vitamin D2 (ergocalciferol) metabolism1.00
    		Vitamins0.33
    2Cytochrome P450 - arranged by substrate type
    		Cytochrome P450 - arranged by substrate type1.00
    		cytochrome P4500.73
    		Phase 1 - Functionalization of compounds0.74
    3Vitamin D (calciferol) metabolism
    		Vitamin D (calciferol) metabolism1.00
    		Metabolism of steroid hormones and vitamin D0.27
    		Steroid hormones0.27
    4Transcription_Role of VDR in regulation of genes involved in osteoporosis
    		Transcription_Role of VDR in regulation of genes involved in osteoporosis1.00
    		Transcription Role of VDR in regulation of genes involved in osteoporosis0.80
    5Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for CYP24A1
        Transcription Role of VDR in regulation of genes involved in osteoporosis
    Vitamin D2 (ergocalciferol) metabolism


    2 GeneGo (Thomson Reuters) Pathways for CYP24A1
        Transcription Role of VDR in regulation of genes involved in osteoporosis
    Vitamin D2 (ergocalciferol) metabolism

    4 BioSystems Pathways for CYP24A1 
        Vitamin D synthesis
    cytochrome P450
    Nuclear receptors in lipid metabolism and toxicity
    metapathway biotransformation

    5/9        Reactome Pathways for CYP24A1 (see all 9)
        Cytochrome P450 - arranged by substrate type
    Metabolism
    Steroid hormones
    Vitamin D (calciferol) metabolism
    Metabolism of steroid hormones and vitamin D



    CYP24A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP24A1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/6 Interacting proteins for CYP24A1 (Q079732, 3 ENSP000002168624) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CITED1Q999663, ENSP000003885484I2D: score=1 STRING: ENSP00000388548
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    VDRP114733, ENSP000002290224I2D: score=1 STRING: ENSP00000229022
    TARBP2Q156333I2D: score=2 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001649osteoblast differentiation IEP17023519
    GO:0006766vitamin metabolic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008202steroid metabolic process TAS--
    GO:0033280response to vitamin D IDA16720713

    CYP24A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CYP24A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CYP24A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CYP24A1

    9 HMDB Compounds for CYP24A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Calcidiol25-Hydroxyvitamin D3 (see all 11)19356-17-3--
    Calcitriol(3b,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trienetriol (see all 19)32222-06-3--
    CalciumCa (see all 2)7440-70-2--
    Ercalcitriol1,25-Dihydroxycalciferol (see all 7)60133-18-8--
    Ergocalciferol(+)-Vitamin D2 (see all 72)50-14-6--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Vitamin D3(+)-Vitamin D3 (see all 32)67-97-0--

    6 DrugBank Compounds for CYP24A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ErgocalciferolSynthetic Vitamin D (see all 2)50-14-6enzymesubstrate15574355 15764712 16816472 11686044 16516540
    Calcitriol1,25-(OH)2D3 (see all 2)32222-06-3enzymesubstrate inducer20619365 19934256
    CalcidiolCalcifediol (see all 4)19356-17-3enzymesubstrate19934256
    Calcipotriol-- 112965-21-6enzymesubstrate16886668
    CorticotropinACTH (see all 5)9002-60-2enzymeinducer19920212
    Paricalcitol-- 131918-61-1enzymesubstrate15733015

    10/29 Novoseek chemical compound relationships for CYP24A1 gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcitroic acid 91.3 5 11686044 (1), 15574355 (1), 17646648 (1), 16816472 (1) (see all 5)
    vitamin d 90.9 152 11179754 (4), 19237542 (3), 14760115 (3), 14648702 (2) (see all 81)
    calcitriol 90.9 96 17368180 (6), 16708384 (4), 12027461 (4), 12914530 (3) (see all 40)
    1,25 dihydroxy vitamin d3 90.6 38 15225756 (3), 16457885 (2), 19922790 (2), 15836435 (2) (see all 24)
    25-hydroxyvitamin d 89.7 42 11686044 (2), 16600026 (2), 11012668 (2), 17395559 (2) (see all 27)
    1,24,25-trihydroxyvitamin d3 88.2 3 12504896 (1), 9165006 (1)
    bm 15766 82.5 4 16598763 (2), 16824767 (2)
    24,25-dihydroxyvitamin d3 82.3 3 12504896 (1), 9165006 (1)
    paricalcitol 69.8 1 16371233 (1)
    7-dehydrocholesterol 61.5 3 16598763 (1), 16824767 (1)

    Search CenterWatch for drugs/clinical trials and news about CYP24A1 / CP24A 

    Transcripts
    for CYP24A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CYP24A1 gene (2 alternative transcripts): 
    NM_000782.4  NM_001128915.1  

    Unigene Cluster for CYP24A1:

    Cytochrome P450, family 24, subfamily A, polypeptide 1
    Hs.89663  [show with all ESTs]
    Unigene Representative Sequence: NM_000782
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216862(uc002xwu.1 uc002xwv.2 uc002xww.2) ENST00000395955
    ENST00000460643 ENST00000395954 ENST00000487593 ENST00000472970

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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AY858838.1 BC109083.1 BC109084.1 L13286.1 S67623.1 

    6 DOTS entries:

    DT.99972261  DT.91986788  DT.75108883  DT.311476  DT.75100645  DT.91696137 

    24/29 AceView cDNA sequences (see all 29):

    BM928702 AW205073 AA877213 BU662901 AW194692 N29030 BF356900 BG401173 
    BX109503 AW206049 NM_000782 L13286 AI400154 AW237530 N20655 CD013988 
    S67623 BF800401 N21576 AI928330 N30976 BI491491 H82378 AW022233 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CYP24A1 (see all 6)    About this scheme

    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:                                                                                                                                    


    ECgene alternative splicing isoforms for CYP24A1

    Expression
    for CYP24A1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CYP24A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAATACTTAT
    CYP24A1 Expression
    About this image
    See CYP24A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYP24A1

    SOURCE GeneReport for Unigene cluster: Hs.89663
        SABiosciences Expression via Pathway-Focused PCR Array including CYP24A1: 

              Drug Metabolism: Phase I Enzymes in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP24A1
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    In Situ
    Assay Products:     
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    Orthologs
    for CYP24A1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CYP24A1 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CYP24A11 cytochrome P450, family 24, subfamily A, polypeptide more 70.93(n)
    71.75(a)    		   395827  NM_204979.1  NP_990310.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 77(a)
    77(a)
    		 1 ↔ many
    1 ↔ many
    		 AAWZ02036255(2025-12955)
    GL343716.1(170404-185061)
    zebrafish
    (Danio rerio)    		 Actinopterygii cyp24a11 cytochrome P450, family 24, subfamily A, polypeptide more 66.59(n)
    70.33(a)    		   100004700  NM_001089458.1  NP_001082927.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Cyp12b21 CG15077-PA 43.46(n)
    28.38(a)    		   37163  NM_137526.3  NP_611370.2 
    worm
    (Caenorhabditis elegans)    		 Secernentea cyp-44A11 Protein CYP-44A1 41.76(n)
    29.84(a)    		   173936  NM_062651.2  NP_495052.1 


    ENSEMBL Gene Tree for CYP24A1 (if available)
    TreeFam Gene Tree for CYP24A1 (if available) 

    Paralogs
    for CYP24A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP24A1 gene
    CYP11A12  CYP27A12  CYP11B12  CYP11B22  CYP27C12  CYP27B12  
    7 SIMAP similar genes for CYP24A1 using alignment to 1 protein entry:     CP24A_HUMAN:
    CYP24    CYP27C1    CYP27A1    CYP11B2    CYP11B1    CYP27B1
    CYP11A1

    CYP24A1 for paralogs           About GeneDecksing



    Genomic Variants
    for CYP24A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/563 NCBI SNPs in CYP24A1 are shown (see all 563)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs790108781,2
    		F--49516161(+) TGAAAT/CGGTTC 2 -- ds50011Minor allele frequency- C:0.14WA 118
    rs739126291,2
    		C--49516232(+) AGAACA/GGGCTC 2 -- ds50012Minor allele frequency- G:0.07WA 120
    rs9276491,2
    		C,F,A--49516280(+) TGTGTG/AACTGA 2 -- ds50011Minor allele frequency- A:0.03NA 120
    rs60139041,2
    		F--49516302(+) GAAAGG/TGGGTA 2 -- ds50011Minor allele frequency- T:0.05WA 118
    rs2017832701,2
    		C--49516610(+) CAAGAC/TGTGAA 2 -- ut310--------
    rs1118019351,2
    		C--49516611(+) AAGACA/GTGAAT 2 -- ut310--------
    rs119073501,2
    		C,F,H--49516995(+) GGCATG/AGGAAA 2 -- ut31 ese325Minor allele frequency- A:0.09NA NS EA WA CSA 2464
    rs752137381,2
    		C,F--49517151(+) ATACAC/TGGACA 2 -- ut311Minor allele frequency- T:0.03WA 118
    rs169990601,2
    		C,F,H--49517429(+) GGGAGG/ACCTGA 2 -- ut31 ese311Minor allele frequency- A:0.06NA NS EA WA 1348
    rs558151221,2
    		C--49517649(-) GGTTAA/C/GAAACC 4 -- ut311CSA 1

    HapMap Linkage Disequilibrium report for CYP24A1 (52769988 - 52790516 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CYP24A1
         1 Indel: 73531
    Human Gene Mutation Database (HGMD): CYP24A1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP24A1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP24A1

    Disorders / Diseases
    for CYP24A1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CYP24A1 for disorders           About GeneDecksing

    OMIM gene information: 126065    OMIM disorders: --

    UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973
  • Defects in CYP24A1 are the cause of hypercalcemia infantile (HCAI) [MIM:143880]. HCAI is a disorder
    • characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and
    nephrocalcinosis

    20/48 diseases for CYP24A1 (see all 48):    About MalaCards
    pseudovitamin d deficiency rickets    rickets    cholesterol    hypercalcemia, infantile
    renal clear cell carcinoma    osteomalacia    arterial calcification    myeloid leukemia
    hypercalcemia    basal cell carcinoma    acute myeloid leukemia    nephrocalcinosis
    hypercalciuria    squamous cell carcinoma    osteoporosis    colon carcinoma
    carcinoma    gigantism    colon cancer    multiple sclerosis

    1 disease from the University of Copenhagen DISEASES database for CYP24A1:
    Rickets

    10/24 Novoseek disease relationships for CYP24A1 gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rickets 64 2 8266831 (1), 15544953 (1)
    rickets hypophosphatemic 57.8 1 16753019 (1)
    prostate cancer 40.2 15 12270218 (2), 12485911 (2), 17368180 (2), 15538745 (1), 19667147 (1), 16886663 (1), 19255064 (1), 15113973 (1) (see top 4)
    osteomalacia 36.6 4 16691293 (3), 15630458 (1)
    breast cancer 29.8 14 19667160 (2), 19570947 (2), 15225785 (1), 15863722 (1), 16849588 (1), 15225766 (1), 14760115 (1), 19244278 (1) (see top 4)
    cancer 28.4 22 19570947 (3), 16680461 (2), 16180015 (1), 17507873 (1), 16886669 (1), 11467853 (1), 15860548 (1), 16886663 (1), 15223133 (1), 17368180 (1), 17213017 (1), 15860259 (1), 15863722 (1) (see top 4)
    colon carcinoma 24.2 3 12027461 (2), 11467853 (1)
    colon cancer 18.7 2 11467853 (2)
    tumors 16.5 17 16180015 (4), 14585316 (1), 17875655 (1), 12899539 (1), 17121927 (1), 18327873 (1), 15860259 (1), 16886669 (1), 18351578 (1), 17143621 (1), 17182978 (1), 11467853 (1), 15225766 (1), 16886663 (1) (see top 4)
    myeloid leukemia 14 2 10410379 (1), 16457885 (1)

    Human Genome Epidemiology (HuGE) Navigator: CYP24A1 (31 documents)

    Export disorders for CYP24A1 gene to outside databases

    Publications
    for CYP24A1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CYP24A1 gene, integrated from 9 sources (see all 245):
    (articles sorted by number of sources associating them with CYP24A1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Metabolism of vitamin D3 by cytochromes P450. (PubMed id 15574355)2, 7, 9 Sakaki T.... Inouye K. (2005)
    2. 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. (PubMed id 16516540)1, 7, 9 Masuda S....Jones G. (2006)
    3. Human 25-hydroxyvitamin D 24-hydroxylase cytochrome P450 subunit maps to a different chromosomal location than that of pseudovitamin D- deficient rickets. (PubMed id 8266831)1, 2, 9 Labuda M.... Glorieux F.H. (1993)
    4. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. (PubMed id 21675912)1, 2 Schlingmann K.P.... Konrad M. (2011)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    6. Cloning of the human 1 alpha,25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements. (PubMed id 7632726)1, 2 Chen K.-S. and DeLuca H.F. (1995)
    7. Isolation and expression of human 1,25-dihydroxyvitamin D3 24- hydroxylase cDNA. (PubMed id 8506296)1, 2 Chen K.-S.... Deluca H.F. (1993)
    8. CYP24 splicing variants are associated with different patterns of constitutive and calcitriol-inducible CYP24 activity in human prostate cancer cell lines. (PubMed id 17368180)1, 9 Muindi J.R....Trump D.L. (2007)
    9. Structure-function analysis of vitamin D 24-hydroxylase (CYP24A1) by site-directed mutagenesis: amino acid residues responsible for species-based difference of CYP24A1 between humans and rats. (PubMed id 16617161)1, 9 Hamamoto H....Sakaki T. (2006)
    10. CYP24 promoter activity is affected by mechanical stress and mitogen-activated protein kinase in MG63 osteoblast-like cells. (PubMed id 18467787)1, 9 Toyoshita Y....Yokoyama A. (2008)

    External Searches for CYP24A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CYP24A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1591 HGNC: 2602 AceView: CYP24A1 Ensembl:ENSG00000019186 euGenes: HUgn1591
    ECgene: CYP24A1 H-InvDB: CYP24A1

    Other Databases showing CYP24A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CYP24A1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CYP24A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CYP24A1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for CYP24A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CYP24A1 gene:
    Search GeneIP for patents involving CYP24A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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