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

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 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 vitamin d-dependent rickets, type i, and nephrogenic systemic fibrosis, and among its related super-pathways are Vitamin D2 (ergocalciferol) metabolism and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP11A1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CYP27B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP27B1


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

Entrez Gene cytogenetic band: 12q13.1-q13.3   Ensembl cytogenetic band:  12q14.1   HGNC cytogenetic band: 12q13.3-q14

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:
58,161,034 bp from pter
Size:
4,918 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Mitochondrion membrane

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

Explore proteomics data for CYP27B1 at MOPED 

CYP27B1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

CYP27B1 Protein Expression

REFSEQ proteins: NP_000776.1  
ENSEMBL proteins: 
 ENSP00000228606   ENSP00000449472  
Reactome Protein details: O15528
Human Recombinant Protein Products for CYP27B1: 
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OriGene Protein Over-expression Lysate for CYP27B1
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Novus Biologicals CYP27B1 Protein
Novus Biologicals CYP27B1 Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for CYP27B1 

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

CYP27B1 for ontologies           About GeneDecksing



CYP27B1 Antibody Products: 
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GenScript Custom Assay Services for CYP27B1
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Cloud-Clone Corp. ELISAs for CYP27B1 
Cloud-Clone Corp. CLIAs for CYP27B1


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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


CYP27B1 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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): 5 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004498calcidiol 1-monooxygenase activity IDA15795327
GO:0005506iron ion binding IEA--
GO:0009055electron carrier activity IEA--
GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
GO:0020037heme binding IEA--
     
CYP27B1 for ontologies           About GeneDecksing


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  hematopoietic system  homeostasis/metabolism 
 immune system  integument  limbs/digits/tail  renal/urinary system  reproductive system 
 skeleton 

CYP27B1 for phenotypes           About GeneDecksing

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

   inGenious Targeting Laboratory - Custom generated mouse model solutions for CYP27B1 
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   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CYP27B1 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYP27B1 

miRNA
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miRTarBase miRNAs that target CYP27B1:
hsa-mir-125b (MIRT001197)

QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CYP27B1
2 QIAGEN miScript miRNA Assays for microRNAs that regulate CYP27B1:
hsa-miR-575 hsa-miR-1207-5p
SwitchGear 3'UTR luciferase reporter plasmidCYP27B1 3' UTR sequence
Inhib. RNA
Products:
    
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Gene Editing
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Clone
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GenScript: all cDNA clones in your preferred vector: CYP27B1 (NM_000785)
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP27B1
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Sirion Biotech Customized lentivirus for stable overexpression of CYP27B1 
                     Customized lentivirus expression plasmids for stable overexpression of CYP27B1 

Cell Line
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Search LifeMap BioReagents cell lines for CYP27B1
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP27B1


(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for CYP27B1 About   (see all 10)                                                                                              See pathways by source

SuperPathContained pathways About
1Vitamin D2 (ergocalciferol) metabolism
Vitamin D2 (ergocalciferol) metabolism0.40
Vitamin D (calciferol) metabolism0.36
Vitamin D synthesis0.40
Vitamins0.33
2Cytochrome P450 - arranged by substrate type
Cytochrome P450 - arranged by substrate type0.75
Phase 1 - Functionalization of compounds0.74
cytochrome P4500.75
3Metabolism
Metabolism0.40
Metabolism of lipids and lipoproteins0.34
Metabolic pathways0.40
4Biological oxidations
Biological oxidations0.55
metapathway biotransformation0.41
5Metabolism of steroid hormones and vitamin D
Metabolism of steroid hormones and vitamin D1.00
Steroid hormones1.00

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

2 EMD Millipore Pathways for CYP27B1
    Transcription Role of VDR in regulation of genes involved in osteoporosis
Vitamin D2 (ergocalciferol) metabolism


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

5/9        Reactome Pathways for CYP27B1 (see all 9)
    Cytochrome P450 - arranged by substrate type
Metabolism
Steroid hormones
Vitamin D (calciferol) metabolism
Metabolism of steroid hormones and vitamin D


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

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


CYP27B1 for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP27B1

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/7 Interacting proteins for CYP27B1 (O155283 ENSP000002286064) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

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): 5/26 biological process terms (GO ID links to tree view) (see all 26):    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

CYP27B1 for ontologies           About GeneDecksing



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

CYP27B1 for compounds           About GeneDecksing

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

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]

10/11 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

10/44 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)

Search CenterWatch for drugs/clinical trials and news about CYP27B1 / CP27B

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000547344 ENST00000228606(uc001spz.1 uc001sqa.1) ENST00000546567(uc001sqb.1)
ENST00000547451(uc001sqc.1) ENST00000552186 ENST00000546496
miRNA
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SwitchGear 3'UTR luciferase reporter plasmidCYP27B1 3' UTR sequence
Inhib. RNA
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Browse for Gene Knock-down Tools from EMD Millipore
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OriGene ORF clones in mouse, rat for CYP27B1
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GenScript: all cDNA clones in your preferred vector: CYP27B1 (NM_000785)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP27B1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP27B1
Sirion Biotech Customized lentivirus for stable overexpression of CYP27B1 
                     Customized lentivirus expression plasmids for stable overexpression of CYP27B1 
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OriGene qPCR primer pairs and template standards for CYP27B1
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP27B1

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 

24/201 AceView cDNA sequences (see all 201):

BE293985 NM_023032 AI867306 BM931159 BM684610 AA341990 AI818156 BI259784 
BC000550 CR595086 NM_005371 BC001776 AA962620 BM713851 BM836364 BX279930 
CA308365 BQ678084 BE294824 AB005038 X96698 BU689529 W24409 BE294472 

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™, 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

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


See CYP27B1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP27B1

SOURCE GeneReport for Unigene cluster: Hs.524528

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

    SABiosciences Expression via Pathway-Focused 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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CYP27B1 gene from 5/9 species (see all 9)    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
Uncharacterized protein
57(a)
1 ↔ 1
2(66875078-66891917)
zebrafish
(Danio rerio)
Actinopterygii LOC7933091 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial-like 61.37(n)
55.15(a)
  793309  XM_003199400.1  XP_003199448.1 
fruit fly
(Drosophila melanogaster)
Insecta Cyp49a13 cytochrome P450 30(a)
(best of 9)
    --
worm
(Caenorhabditis elegans)
Secernentea ccp-443 cytochrome p450 27(a)   II(5504020-5505870)   --


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)
About This Section
Paralogs for CYP27B1 gene
CYP11A12  CYP27A12  CYP11B12  CYP24A12  CYP27C12  CYP11B22  
9 SIMAP similar genes for CYP27B1 using alignment to 4 protein entries:     CP27B_HUMAN (see all proteins):
CYP27C1    CYP27A1    CYP21    CYP21A2    CYP11B2    CYP11A1
CYP2J2    CYP24A1    CYP11B1

CYP27B1 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) 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

10/216 SNPs in CYP27B1 are shown (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
----------
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--------
VAR_0169724
Rickets vitamin D-dependent 1A (VDDR1A)4--see VAR_0169722 R C mis40--------
VAR_0169684
Rickets vitamin D-dependent 1A (VDDR1A)4--see VAR_0169682 R C mis40--------
VAR_0169714
Rickets vitamin D-dependent 1A (VDDR1A)4--see VAR_0169712 R P mis40--------
VAR_0169674
Rickets vitamin D-dependent 1A (VDDR1A)4--see VAR_0169672 E K mis40--------

HapMap Linkage Disequilibrium report for CYP27B1 (58156117 - 58161034 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
SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
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

  • 20/90 diseases for CYP27B1 (see all 90):    About MalaCards
    vitamin d-dependent rickets, type i    nephrogenic systemic fibrosis    actinic keratosis    rickets
    vitamin d-dependent rickets type ii    chronic kidney failure    lead poisoning    sick sinus syndrome
    hyperparathyroidism    hypervitaminosis d    cerebrotendinous xanthomatosis    hypophosphatemia
    addison's disease    xanthomatosis    osteoporosis, postmenopausal    x-linked hypophosphatemia
    graves' disease    keratosis    hypercalcemia    osteomalacia

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

    CYP27B1 for disorders           About GeneDecksing

    10/68 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)
    About This Section

    PubMed articles for CYP27B1 gene, integrated from 9 sources (see all 526):
    (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. (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. (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. (2005)
    4. Vitamin D related genes, CYP24A1 and CYP27B1, and col on cancer risk. (PubMed id 19706847)1, 4, 9 Dong L.M....Peters U. (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. (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. (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. (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. (1997)
    9. A rare haplotype of the vitamin D receptor gene is pr otective against diabetic nephropathy. (PubMed id 19783860)1, 4, 9 Martin R.J....Maxwell A.P. (2010)
    10. Polymorphisms in vitamin D metabolism related genes a nd risk of multiple sclerosis. (PubMed id 20007432)1, 4, 9 Simon K.C....Ascherio A. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1594 HGNC: 2606 AceView: CYP27B1andMETTL1 Ensembl:ENSG00000111012 euGenes: HUgn1594
    ECgene: CYP27B1 Kegg: 1594 H-InvDB: CYP27B1

    (According to HUGE)
    About This Section
      --

    (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 CYP27B1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP27B1
    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.)
    About This Section
    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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