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CYP27B1 Gene

protein-coding   GIFtS: 68
GCID: GC12M058156

Cytochrome P450, Family 27, Subfamily B, Polypeptide 1

(Previous names: cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase),...)
(Previous symbols: VDD1, PDDR)
  See CYP27B1-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 27, Subfamily B, Polypeptide 11 2     VDDR I1
PDDR1 2 5     25 Hydroxyvitamin D3-1-Alpha Hydroxylase2
VDD11 2 5     25-Hydroxyvitamin D-1 Alpha Hydroxylase, Mitochondrial2
1alpha(OH)ase1 2     CP2B2
Calcidiol 1-Monooxygenase2 3     CYP12
Cytochrome P450 27B12 3     CYP1alpha2
Cytochrome P450 Subfamily XXVIIB Polypeptide 12 3     P450c12
Cytochrome P450C1 Alpha2 3     VDDR2
Cytochrome P450VD1-Alpha2 3     VDDRI2
25-OHD-1 Alpha-Hydroxylase2 3     VDR2
CYP27B2 3     25-Hydroxyvitamin D(3) 1-Alpha-Hydroxylase3
VD3 1A Hydroxylase2 3     CYP1ALPHA3
25-Hydroxyvitamin D3 1alpha-Hydroxylase1     EC 1.14.13.133
Cytochrome P450, Subfamily XXVIIB (25-Hydroxyvitamin
D-1-Alpha-Hydroxylase), Polypeptide 11
     

External Ids:    HGNC: 26061   Entrez Gene: 15942   Ensembl: ENSG000001110127   OMIM: 6095065   UniProtKB: O155283   

Export aliases for CYP27B1 gene to outside databases

Previous GC identifers: GC12M057757 GC12M058299 GC12M057872 GC12M056442 GC12M055192


(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 CYP27B1 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. The protein encoded by this gene localizes to the inner mitochondrial membrane where it
hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin
D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus
this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium
homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. (provided by RefSeq, Jul
2008)

GeneCards Summary for CYP27B1 Gene:
CYP27B1 (cytochrome P450, family 27, subfamily B, polypeptide 1) is a protein-coding gene. Diseases associated with CYP27B1 include actinic keratosis, and vitamin d-dependent rickets type i. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP19A1.

UniProtKB/Swiss-Prot: CP27B_HUMAN, O15528
Function: Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D) to 1-alpha,25-dihydroxyvitamin D3
(1,25(OH)2D) plays an important role in normal bone growth, calcium metabolism, and tissue differentiation

summary for CYP27B1 Gene:
Vitamin D receptors (VDRs) are members of the NR1I family, which also includes pregnane X (PXR) and
constitutive androstane (CAR) receptors, that form heterodimers with members of the retinoid X receptor
family. VDR is expressed in the intestine, thyroid and kidney and has a vital role in calcium homeostasis.
VDRs repress expression of 1alpha-hydroxylase (the proximal activator of 1,25(OH)2D3) and induce expression
of the 1,25(OH)2D3 inactivating enzyme CYP24. Also, it has recently been identified as an additional bile
acid receptor alongside FXR and may function to protect gut against the toxic and carcinogenic effects of
these endobiotics. Inherited mutations in the VDR gene leads to rickets, which is characterized by muscle
weakness, growth retardation, bone deformity and secondary hyperparathyroidism. The human gene encoding the
vitamin D receptor has been localized to chromosome 12q12-q14.

Gene Wiki entry for CYP27B1 (25-Hydroxyvitamin D3 1-alpha-hydroxylase) 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 at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP27B1 gene promoter:
         CREB   deltaCREB   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYP27B1 promoter sequence
   Search Chromatin IP Primers for CYP27B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP27B1


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

Entrez Gene cytogenetic band: 12q14.1   Ensembl cytogenetic band:  12q14.1   HGNC cytogenetic band: 12q14.1

CYP27B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP27B1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M058156:  view genomic region     (about GC identifiers)

Start:
58,156,117 bp from pter      End:
58,162,769 bp from pter
Size:
6,653 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CP27B_HUMAN, O15528 (See protein sequence)
Recommended Name: 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial precursor  
Size: 508 amino acids; 56504 Da
Cofactor: Heme group (By similarity)
Secondary accessions: B2RC61 Q548T3

Explore the universe of human proteins at neXtProt for CYP27B1: NX_O15528

Explore proteomics data for CYP27B1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CYP27B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000776.1  
    ENSEMBL proteins: 
     ENSP00000228606   ENSP00000449472   ENSP00000476959  
    Reactome Protein details: O15528

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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: CYP27B1
    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 O15528

    ProtoNet protein and cluster: O15528

    1 Blocks protein domain: IPB002399 Mitochondrial P450 clan signature

    UniProtKB/Swiss-Prot: CP27B_HUMAN, O15528
    Similarity: Belongs to the cytochrome P450 family


    Find genes that share domains with CYP27B1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP27B_HUMAN, O15528
    Function: Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D) to 1-alpha,25-dihydroxyvitamin D3
    (1,25(OH)2D) plays an important role in normal bone growth, calcium metabolism, and tissue differentiation
    Catalytic activity: Calcidiol + NADPH + O(2) = calcitriol + NADP(+) + H(2)O

         Genatlas biochemistry entry for CYP27B1:
    cytochrome P450,subfamily XXVIIB,polypeptide 1,25 hydroxyvitamin D3-1 alpha-hydroxylase,mitochondrial,expressed
    and uptaken by the epithelial cell of the proximal tubule,in a complex with D binding protein,catalyzing the
    formation of active 1,25-dihydroxyvitamin D,tightly regulated by circulating PTH,IGF1,Ca++PO4 and its final
    product,down-regulated by PKIA,involved in normal bone growth,tissue differentiation and calcium homeostasis

         Enzyme Number (IUBMB): EC 1.14.13.131

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004498calcidiol 1-monooxygenase activity IDA15795327
    GO:0005506iron ion binding IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0020037heme binding IEA--
         
    Find genes that share ontologies with CYP27B1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for CYP27B1:
     Decreased viability of wild-ty  Increased cell number in G1, a  Synthetic lethal with Ras  Synthetic lethal with c-Myc af 

         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cyp27b1):
     cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  renal/urinary system  reproductive system 
     skeleton 

    Find genes that share phenotypes with CYP27B1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CYP27B1: Cyp27b1tm1Star Cyp27b1tm1Hfd Cyp27b1tm1Dgo

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    2 qRT-PCR Assays for microRNAs that regulate CYP27B1:
    hsa-miR-575 hsa-miR-1207-5p
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    Inhib. RNA
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    (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
    CP27B_HUMAN, O15528: Mitochondrion membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15589699
    GO:0005739mitochondrion TAS9333115
    GO:0005741mitochondrial outer membrane TAS--

    Find genes that share ontologies with CYP27B1           About GenesLikeMe


    (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 CYP27B1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    1,25-dihydroxyvitamin D3 biosynthesis0.00
    Phase 1 - Functionalization of compounds0.75
    Vitamins0.00
    cytochrome P4500.74
    Vitamin D2 ergocalciferol metabolism0.00
    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


    Find genes that share SuperPaths with CYP27B1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for CYP27B1
        Transcription Role of VDR in regulation of genes involved in osteoporosis
    Vitamin D2 (ergocalciferol) metabolism

    5 BioSystems Pathways for CYP27B1
        Vitamin D synthesis
    cytochrome P450
    Nuclear receptors in lipid metabolism and toxicity
    1,25-dihydroxyvitamin D3 biosynthesis
    metapathway biotransformation

    2 Reactome Pathways for CYP27B1
        Vitamins
    Vitamin D (calciferol) metabolism


    3 Kegg Pathways  (Kegg details for CYP27B1):
        Steroid biosynthesis
    Metabolic pathways
    Tuberculosis

    UniProtKB/Swiss-Prot: CP27B_HUMAN, O15528
    Pathway: Hormone biosynthesis; cholecalciferol biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYP27B1: 

              Terminal Differentiation Markers in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Drug Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYP27B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for CYP27B1 (O155283 ENSP000002286064) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CITED1Q999663, ENSP000003885484I2D: score=1 STRING: ENSP00000388548
    TP53P046373I2D: score=1 
    CYP2R1ENSP000003345924STRING: ENSP00000334592
    MYD88ENSP000003796254STRING: ENSP00000379625
    TIRAPENSP000003764454STRING: ENSP00000376445
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0006816calcium ion transport ISS--
    GO:0008202steroid metabolic process TAS--
    GO:0008285negative regulation of cell proliferation IDA16549446

    Find genes that share ontologies with CYP27B1           About GenesLikeMe



    (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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    Compounds for CYP27B1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    EB 1089Vitamin D receptor (VDR) agonist[134404-52-7]
    CalcipotriolVitamin D3 analog[112965-21-6]
    AlfacalcidolProdrug of vitamin D3 (Cat. No. 4156)[41294-56-8]
    CalcifediolProhormone of calcitriol (Cat. No. 2551). Major circulating form of vitamin D[19356-17-3]
    CalcitriolVitamin D receptor (VDR) agonist[32222-06-3]

    Selected HMDB Compounds for CYP27B1 (see all 11)    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--
    OxygenOxygen (see all 5)7782-44-7--
    Vitamin D3(+)-Vitamin D3 (see all 32)67-97-0--

    4 DrugBank Compounds for CYP27B1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CalcidiolCalcifediol (see all 4)19356-17-3enzymesubstrate15887856 10374186 9527847 16061850 20619365 16955631
    ErgocalciferolSynthetic Vitamin D (see all 2)50-14-6enzymesubstrate15574355 20525913 16816472 17426122 11686044
    Alfacalcidol1-hydroxycholecalciferol (see all 3)41294-56-8target--15369780
    CorticotropinACTH (see all 5)9002-60-2enzymeinducer19920212

    Selected Novoseek inferred chemical compound relationships for CYP27B1 gene (see all 44)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcitriol 95.5 232 12027461 (5), 9492054 (5), 16467308 (5), 8756529 (4) (see all 99)
    vitamin d 94.6 666 20172873 (6), 18290729 (4), 18694980 (4), 16549446 (4) (see all 99)
    25-hydroxyvitamin d 90.9 114 15972816 (4), 17395559 (4), 11686044 (2), 18559006 (2) (see all 61)
    1,25 dihydroxy vitamin d3 85.5 45 15225756 (5), 17507873 (3), 17395703 (2), 12727200 (2) (see all 29)
    1alpha,25-dihydroxyvitamin d3-26,23-lactone 83.9 1 10347199 (1)
    eb 1089 83.7 8 15039597 (2), 17449905 (1), 20147525 (1), 12778867 (1) (see all 6)
    paricalcitol 75 7 16371233 (2), 17159355 (1), 12778867 (1), 17115413 (1)
    gemini 68.3 28 12843209 (4), 10825392 (3), 11455583 (3), 12761332 (2) (see all 8)
    touchdown 67.5 4 15225832 (1), 16061850 (1), 16886678 (1)
    24,25-dihydroxyvitamin d3 64.1 4 11686044 (1), 8394753 (1)



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    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CYP27B1 gene: 
    NM_000785.3  

    Unigene Cluster for CYP27B1:

    Cytochrome P450, family 27, subfamily B, polypeptide 1
    Hs.524528  [show with all ESTs]
    Unigene Representative Sequence: NM_000785
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000547344 ENST00000228606(uc001spz.1 uc001sqa.1) ENST00000546567(uc001sqb.1)
    ENST00000547451(uc001sqc.1) ENST00000546609 ENST00000552186 ENST00000546496

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    Additional mRNA sequence: 

    AB005038.1 AB005989.1 AF020192.1 AF246895.1 AK314953.1 BC136386.1 DQ925362.1 DQ925363.1 
    DQ925364.1 DQ925365.1 DQ925366.1 DQ925367.1 DQ925368.1 DQ925369.1 DQ925370.1 DQ925371.1 

    5 DOTS entries:

    DT.100739573  DT.212487  DT.121200896  DT.40115158  DT.70100309 

    Selected AceView cDNA sequences (see all 201):

    W24409 BI259784 AW195105 AA962620 BQ228589 BX279930 BG058531 BI820806 
    AB005038 BC000550 X96698 NM_023032 CK904570 BE895041 AI867306 BG059068 
    BE294472 NM_023033 BG391631 BM466327 AB005989 BE887016 BE293985 Y18643 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CYP27B1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                    -                                                               
    SP2:                    -                                                               
    SP3:                    -                                                               
    SP4:                                                                                    


    ECgene alternative splicing isoforms for CYP27B1

    (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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    CYP27B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCAGAAGG
    CYP27B1 Expression
    About this image

    CYP27B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP27B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524528

    UniProtKB/Swiss-Prot: CP27B_HUMAN, O15528
    Tissue specificity: Kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYP27B1: 
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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 CYP27B1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp27b11 , 5 cytochrome P450, family 27, subfamily b, polypeptide more1, 5 81.26(n)1
    81.66(a)1
      10 (74.50 cM)5
    131151  NM_010009.21  NP_034139.21 
     1270482505 
    lizard
    (Anolis carolinensis)
    Reptilia CYP27B16
    cytochrome P450, family 27, subfamily B, polypepti...
    57(a)
    1 ↔ 1
    2(66875078-66891917)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cyp27b11 cytochrome P450, family 27, subfamily B, polypeptide more 58.62(n)
    56.09(a)
      448754  NM_001006906.1  NP_001006907.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7933091 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial-like 61.37(n)
    55.15(a)
      793309  XM_003199400.2  XP_003199448.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp49a13 cytochrome P450 30(a)
    (best of 9)
        --


    ENSEMBL Gene Tree for CYP27B1 (if available)
    TreeFam Gene Tree for CYP27B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYP27B1 gene
    CYP19A12  CYP11B12  CYP24A12  CYP46A12  CYP11B22  CYP11A12  CYP27A12  CYP27C12  
    9 SIMAP similar genes for CYP27B1 using alignment to 4 protein entries:     CP27B_HUMAN (see all proteins):
    CYP27C1    CYP27A1    CYP21    CYP21A2    CYP11B2    CYP11A1
    CYP2J2    CYP11B1    CYP24A1

    Find genes that share paralogs with CYP27B1           About GenesLikeMe



    (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 CYP27B1 (see all 216)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289346071,2,,4
    CRickets vitamin D-dependent 1A (VDDR1A)4 pathogenic157992389(-) TGTACC/TCTGTG 2 P S mis1 ese30--------
    rs289346061,2,,4
    CRickets vitamin D-dependent 1A (VDDR1A)4 pathogenic157992730(-) CTCCCC/GGCACC 2 P R mis1 ese30--------
    rs289346051,2,,4
    CRickets vitamin D-dependent 1A (VDDR1A)4 pathogenic157994239(-) TTGCGA/GACTGC 2 E G mis1 ese30--------
    rs289346041,2,,4
    CRickets vitamin D-dependent 1A (VDDR1A)4 pathogenic157994293(-) CGAGCA/GCTGCA 2 H R mis1 ese30--------
    VAR_0169704
    Rickets vitamin D-dependent 1A (VDDR1A)4--see VAR_0169702 S Y mis40--------
    VAR_0169694
    Rickets vitamin D-dependent 1A (VDDR1A)4--see VAR_0169692 Q H mis40--------
    VAR_0169604
    Rickets vitamin D-dependent 1A (VDDR1A)4--see VAR_0169602 R G mis40--------
    VAR_0169554
    Rickets vitamin D-dependent 1A (VDDR1A)4--see VAR_0169552 T R mis40--------
    VAR_0169614
    Rickets vitamin D-dependent 1A (VDDR1A)4--see VAR_0169612 T I mis40--------
    VAR_0169544
    Rickets vitamin D-dependent 1A (VDDR1A)4--see VAR_0169542 E G mis40--------

    HapMap Linkage Disequilibrium report for CYP27B1 (58156117 - 58162769 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CYP27B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv899121CNV Loss21882294
    nsv510601CNV Loss20534489
    nsv470296CNV Loss18288195
    nsv470297CNV Gain18288195
    nsv826384CNV Gain20364138

    Human Gene Mutation Database (HGMD): CYP27B1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP27B1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP27B1

    (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.)
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    OMIM gene information: 609506   
    OMIM disorders: 264700  
    UniProtKB/Swiss-Prot: CP27B_HUMAN, O15528
  • Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]: A disorder caused by a selective deficiency of the
    active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical
    features of rickets. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for CYP27B1 (see all 21):    
    About MalaCards
    actinic keratosis    vitamin d-dependent rickets type i    humoral hypercalcemia of malignancy    lead poisoning
    vitamin d-dependent rickets type ii    nephrogenic systemic fibrosis    rickets    hypervitaminosis d
    hyperparathyroidism    chronic kidney failure    cerebrotendinous xanthomatosis    addison's disease
    glioblastoma multiforme    sick sinus syndrome    hypophosphatemia    hypercalcemia
    graves' disease    type 1 diabetes mellitus    osteoporosis    colon cancer

    8 diseases from the University of Copenhagen DISEASES database for CYP27B1:
    Rickets     Hypophosphatemia     X-linked hypophosphatemia     Osteomalacia
    Hypercalcemia     Hyperparathyroidism     Hypervitaminosis D     Sick sinus syndrome

    Find genes that share disorders with CYP27B1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CYP27B1 gene (see all 68)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rickets 83.6 39 9415400 (2), 9275211 (1), 9316302 (1), 1336301 (1) (see all 27)
    vitamin d-dependent rickets, type ii 77 5 9275211 (1), 11344183 (1), 20146166 (1)
    vitamin d deficiency 71.4 10 18694980 (2), 15691891 (2), 12520522 (1), 18476984 (1) (see all 5)
    hvdrr 68.3 2 1336301 (1)
    rickets hypophosphatemic 58.4 2 1639943 (1), 20511055 (1)
    hypercalcemia 54.8 7 17086935 (2), 12570835 (1), 11691644 (1), 19113910 (1) (see all 6)
    hyperparathyroidism secondary 49.9 7 15798098 (2), 16555680 (1), 17615144 (1), 14683515 (1)
    prostate cancer 48.2 68 17932346 (7), 15947108 (5), 20147525 (4), 17207994 (4) (see all 21)
    autoimmune diseases 46.8 16 19405173 (2), 10884183 (1), 12570835 (1), 15936743 (1) (see all 12)
    hypocalcemia 45.3 4 9275211 (1), 16555680 (1), 17488797 (1)

    Genetic Association Database (GAD): CYP27B1
    Human Genome Epidemiology (HuGE) Navigator: CYP27B1 (44 documents)

    Export disorders for CYP27B1 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 CYP27B1 gene, integrated from 10 sources (see all 530):
    (articles sorted by number of sources associating them with CYP27B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase. (PubMed id 9344864)1, 2, 3, 9 Monkawa T.... Saruta T. (Biochem. Biophys. Res. Commun. 1997)
    2. Comprehensive association analysis of the vitamin D pathway genes, VDR, CYP27B1, and CYP24A1, in prostate cancer. (PubMed id 17932346)1, 4, 9 Holick C.N....Peters U. (amp 2007)
    3. Vitamin D(3) metabolism in human glioblastoma multiforme: functionality of CYP27B1 splice variants, metabolism of calcidiol, and effect of calcitriol. (PubMed id 16061850)1, 7, 9 Diesel B....Meese E. (Clin. Cancer Res. 2005)
    4. Vitamin D related genes, CYP24A1 and CYP27B1, and colon cancer risk. (PubMed id 19706847)1, 4, 9 Dong L.M....Peters U. (amp 2009)
    5. A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population. (PubMed id 15956353)1, 4, 9 Jennings C.E....Pearce S.H. (J. Mol. Endocrinol. 2005)
    6. Sequence variants in the human 25-hydroxyvitamin D3 1-alpha-hydroxylase (CYP27B1) gene are not associated with prostate cancer risk. (PubMed id 12386916)1, 4, 9 Hawkins G.A....Xu J. (Prostate 2002)
    7. Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages. (PubMed id 10320521)1, 2, 9 Smith S.J....Mawer E.B. (J. Bone Miner. Res. 1999)
    8. Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. (PubMed id 9415400)1, 2, 9 Fu G.K....Portale A.A. (Mol. Endocrinol. 1997)
    9. A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy. (PubMed id 19783860)1, 4, 9 Martin R.J....Maxwell A.P. (Nephrol. Dial. Transplant. 2010)
    10. Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis. (PubMed id 20007432)1, 4, 9 Simon K.C....Ascherio A. (Mult. Scler. 2010)

    (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: 1594 HGNC: 2606 AceView: CYP27B1andMETTL1 Ensembl:ENSG00000111012 euGenes: HUgn1594
    ECgene: CYP27B1 Kegg: 1594 H-InvDB: CYP27B1

    (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 CYP27B1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CYP27B1[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cyp27b1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYP27B1 gene:
    Search GeneIP for patents involving CYP27B1

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



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