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CYP24A1 Gene

protein-coding   GIFtS: 68
GCID: GC20M052769

Cytochrome P450, Family 24, Subfamily A, Polypeptide 1

(Previous names: cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase))
(Previous symbol: CYP24)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome P450, Family 24, Subfamily A, Polypeptide 11 2     1,25-@Dihydroxyvitamin D3 24-Hydroxylase2
CYP241 2 3 5     1,25-Dihydroxyvitamin D(3) 24-Hydroxylase, Mitochondrial2
Cytochrome P450, Subfamily XXIV (Vitamin D 24-Hydroxylase)1 2     CP242
Cytochrome P450 24A12 3     P450-CC242
Cytochrome P450-CC242 3     Exo-Mitochondrial Protein2
Vitamin D(3) 24-Hydroxylase2 3     Vitamin D 24-Hydroxylase2
24-OHase2 3     EC 1.14.13.1263
HCAI2 5     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, polypeptide 1) is a protein-coding gene. Diseases associated with CYP24A1 include hypercalcemia, infantile, and williams syndrome. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP19A1.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   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 plasmidCYP24A1 promoter sequence
   Search Chromatin IP Primers for CYP24A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
Secondary accessions: Q15807 Q32ML3 Q5I2W7
Alternative splicing: 3 isoforms:  Q07973-1   Q07973-2   Q07973-3   (Specifically expressed in macrophages. Lacks the transit peptide. May be a dominant negative-acting isoform possibly by sequestering vitamin D metabolites)

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

Explore proteomics data for CYP24A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CYP24A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000773.2  NP_001122387.1  

    ENSEMBL proteins: 
     ENSP00000216862   ENSP00000379285   ENSP00000379284  
    Reactome Protein details: Q07973

    CYP24A1 Human Recombinant Protein Products:

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    CYP24A1 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP24A1
    CYP24, CYP26 and CYP27 families

    3 InterPro protein domains:
     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 domain: IPB002949 CC24 mitochondrial P450 signature

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


    CYP24A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:000840325-hydroxycholecalciferol-24-hydroxylase activity IEA--
    GO:0016491oxidoreductase activity NAS7632726
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0020037heme binding TAS8506296
         
    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/body  homeostasis/metabolism  mortality/aging  renal/urinary system  reproductive system 
     skeleton 

    CYP24A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cyp24a1tm1Star for CYP24A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYP24A1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYP24A1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CYP24A1:
    hsa-mir-125b-5p (MIRT004408), hsa-mir-26b-5p (MIRT029534), hsa-mir-215-5p (MIRT024646), hsa-mir-192-5p (MIRT026473)

    Block miRNA regulation of human, mouse, rat CYP24A1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidCYP24A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CYP24A1

    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP24A1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP24A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CP24A_HUMAN, Q07973: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    CYP24A1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CYP24A1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Vitamins0.00
    Phase 1 - Functionalization of compounds0.75
    Vitamin D2 ergocalciferol metabolism0.00
    cytochrome P4500.74
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42
    4Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D
    Vitamin D (calciferol) metabolism0.00
    5superpathway of cholesterol biosynthesis
    Steroid biosynthesis0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    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

    2 Reactome Pathways for CYP24A1
        Vitamins
    Vitamin D (calciferol) metabolism


    3 Kegg Pathways  (Kegg details for CYP24A1):
        Steroid biosynthesis
    Metabolic pathways
    MicroRNAs in cancer


    CYP24A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CYP24A1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYP24A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for CYP24A1 (Q079732, 3 ENSP000002168624) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    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 
    CCT2ENSP000002993004STRING: ENSP00000299300
    About this table

    Gene Ontology (GO): Selected biological process terms (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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYP24A1 (CP24A)

    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

    Selected Novoseek inferred 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)



    CYP24A1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    miRNA
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    Selected qRT-PCR 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
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    GenScript: all cDNA clones in your preferred vector (see all 2): CYP24A1 (NM_000782)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP24A1
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CYP24A1
      QuantiFast Probe-based Assays in human, mouse, rat CYP24A1

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 29):

    BM928702 AA877213 AW205073 BG401173 NM_000782 BU662901 N29030 AI400154 
    BF800401 CD013988 S67623 BX109503 AW237530 AW194692 BF356900 N20655 
    L13286 AW206049 AI928330 BI491491 N21576 N30976 AW022349 AW022233 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYP24A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATACTTAT
    CYP24A1 Expression
    About this image


    CYP24A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    CYP24A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP24A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.89663
        Pathway & Disease-focused RT2 Profiler PCR Array including CYP24A1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CYP24A1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp24a11 , 5 cytochrome P450, family 24, subfamily a, polypeptide more1, 5 81.06(n)1
    82.88(a)1
      2 (91.91 cM)5
    130811  NM_009996.31  NP_034126.11 
     1704827085 
    chicken
    (Gallus gallus)
    Aves CYP24A11 cytochrome P450, family 24, subfamily A, polypeptide more 70.84(n)
    71.87(a)
      395827  NM_204979.1  NP_990310.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    77(a)
    69(a)
    1 ↔ many
    1 ↔ many
    AAWZ02036255(2048-16669)
    GL343716.1(170008-188769)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004969671 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial-like 58.75(n)
    54.68(a)
      100496967  XM_002941250.2  XP_002941296.2 
    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 Cyp12b2 43.46(n)
    28.38(a)
      37163  NM_137526.3  NP_611370.2 
    worm
    (Caenorhabditis elegans)
    Secernentea cyp-44A11 cyp-44A1 42.25(n)
    30.84(a)
      173936  NM_062651.3  NP_495052.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYP24A1 gene
    CYP19A12  CYP11B12  CYP46A12  CYP11B22  CYP27B12  CYP11A12  CYP27A12  CYP27C12  
    5 SIMAP similar genes for CYP24A1 using alignment to 1 protein entry:     CP24A_HUMAN:
    CYP27C1    CYP27A1    CYP11B2    CYP11B1    CYP27B1

    CYP24A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CYP24A1 (see all 711)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs60688121,2,,4
    C,F,HHypercalcemia infantile (HCAI)4 --52744604(+) TGGGTA/GAAGCA 4 S L mis113Minor allele frequency- G:0.00NS EA NA MN EU 6785
    rs1143683251,2,,4
    C,FHypercalcemia infantile (HCAI)4 --52744644(+) AGTCCG/AAGTTG 4 /R /W mis12Minor allele frequency- A:0.00NA 4724
    VAR_0664094
    Hypercalcemia infantile (HCAI)4--see VAR_0664092 R Q mis40--------
    VAR_0664104
    Hypercalcemia infantile (HCAI)4--see VAR_0664102 E K mis40--------
    rs106230121,2
    C--49516610(+) AAGAC-/ATGTGAA 2 -- ut316Minor allele frequency- AT:0.27EU EA NA MN CSA 432
    rs110864511,2
    C--49519007(+) TGTTA-/ATTTAA 2 -- int10--------
    rs561091951,2
    C,F--49531771(+) CTTCTT/CTATTT 2 -- int13Minor allele frequency- C:0.17WA NA EA 358
    rs61271211,2
    C--49531773(+) TCTTTC/ATTTCT 2 -- int16Minor allele frequency- A:0.49WA CSA NA EA 362
    rs1808008201,2
    --49531816(+) CCTTCC/GCTCCT 2 -- int10--------
    rs119069371,2
    C,H--49531905(+) cttccC/Ttccct 2 -- int1 trp30--------

    HapMap Linkage Disequilibrium report for CYP24A1 (52769988 - 52790516 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CYP24A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv28399CNV Loss19812545
    nsv912946CNV Loss21882294
    nsv912945CNV Loss21882294
    nsv834010CNV Loss17160897
    esv259753OTHER Complex20981092

    Human Gene Mutation Database (HGMD): CYP24A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP24A1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP24A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 126065   
    OMIM disorders: 143880  
    UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973
  • Hypercalcemia infantile (HCAI) [MIM:143880]: A disorder characterized by abnormally high level of calcium
    in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for CYP24A1 (see all 52):    
    About MalaCards
    hypercalcemia, infantile    williams syndrome    hypercalcemia    osteomalacia
    rickets    nephrocalcinosis    gigantism    renal clear cell carcinoma
    rabies    osteoporosis    osteosarcoma    lung cancer susceptibility
    esophageal cancer    basal cell carcinoma    lung adenocarcinoma    thyroid cancer
    congestive heart failure    ovarian cancer    esophagitis    myeloid leukemia

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

    CYP24A1 for disorders           About GeneDecksing

    Selected Novoseek inferred 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) (see all 8)
    osteomalacia 36.6 4 16691293 (3), 15630458 (1)
    breast cancer 29.8 14 19667160 (2), 19570947 (2), 15225785 (1), 15863722 (1) (see all 8)
    cancer 28.4 22 19570947 (3), 16680461 (2), 16180015 (1), 17507873 (1) (see all 13)
    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) (see all 14)
    myeloid leukemia 14 2 10410379 (1), 16457885 (1)

    Genetic Association Database (GAD): CYP24A1
    Human Genome Epidemiology (HuGE) Navigator: CYP24A1 (31 documents)

    Export disorders for CYP24A1 gene to outside databases

    (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)
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    PubMed articles for CYP24A1 gene, integrated from 10 sources (see all 266):
    (articles sorted by number of sources associating them with CYP24A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alternative splicing of vitamin D-24-hydroxylase: a novel mechanism for the regulation of extrarenal 1,25-dihydroxyvitamin D synthesis. (PubMed id 15788398)1, 2, 9 Ren S.... Hewison M. (J. Biol. Chem. 2005)
    2. Metabolism of vitamin D3 by cytochromes P450. (PubMed id 15574355)2, 7, 9 Sakaki T.... Inouye K. (Front. Biosci. 2005)
    3. 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. (Biochim. Biophys. Acta 2006)
    4. Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. (PubMed id 17606874)1, 4, 9 Bailey R....Todd J.A. (Diabetes 2007)
    5. Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway. (PubMed id 16600026)1, 4, 9 Wjst M....AndrAc E. (Respir. Res. 2006)
    6. 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. (J. Bone Miner. Res. 1993)
    7. Vitamin D pathway gene variants and prostate cancer risk. (PubMed id 19454612)1, 4, 9 Holt S.K....Stanford J.L. (amp 2009)
    8. Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. (PubMed id 19255064)1, 4, 9 Ahn J....Hayes R.B. (Carcinogenesis 2009)
    9. Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study. (PubMed id 17244366)1, 4, 9 McCullough M.L....Calle E.E. (Breast Cancer Res. 2007)
    10. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. (PubMed id 21675912)1, 2 Schlingmann K.P.... Konrad M. (N. Engl. J. Med. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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