CYP27B1 Gene
protein-coding GIFtS: 66
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)
| |
Aliases
for CYP27B1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Cytochrome P450, Family 27, Subfamily B, Polypeptide 11 2 | | Cytochrome P450, Subfamily XXVIIB (25-Hydroxyvitamin D-1-Alpha-Hydroxylase),Polypeptide 11 | | PDDR1 2 5 | | 1alpha(OH)Ase1 | | VDD11 2 5 | | 25 Hydroxyvitamin D3-1-Alpha Hydroxylase2 | | CYP11 2 | | 25-Hydroxyvitamin D-1 Alpha Hydroxylase, Mitochondrial2 | | P450c11 2 | | CP2B2 | | Calcidiol 1-Monooxygenase2 3 | | CYP1alpha2 | | Cytochrome P450 27B12 3 | | VDDR2 | | Cytochrome P450 Subfamily XXVIIB Polypeptide 12 3 | | VDDRI2 | | Cytochrome P450C1 Alpha2 3 | | VDR2 | | Cytochrome P450VD1-Alpha2 3 | | 25-Hydroxyvitamin D(3) 1-Alpha-Hydroxylase3 | | 25-OHD-1 Alpha-Hydroxylase2 3 | | CYP1ALPHA3 | | CYP27B2 3 | | EC 1.14.13.133 | | VD3 1A Hydroxylase2 3 | | |
Export aliases for CYP27B1 gene to outside databasesPrevious GC identifers: GC12M057757 GC12M058299 GC12M057872 GC12M056442 GC12M055192 |
Summaries
for CYP27B1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CYP27B1:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins aremonooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids andother lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active formof vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates thelevel of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene canresult in vitamin D-dependent rickets type I. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: CP27B_HUMAN, O15528Function: 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: 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)
|
Genomic Views
for CYP27B1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_029419.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CYP27B1 gene promoter:
CREB deltaCREB C/EBPalpha
Other transcription factors
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-q14CYP27B1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for CYP27B1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: 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 membraneExplore the universe of human proteins at neXtProt for CYP27B1: NX_O15528
CYP27B1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000776.1
ENSEMBL proteins: ENSP00000228606 ENSP00000449472 Reactome Protein details: O15528
Human Recombinant Protein Products for CYP27B1:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
CYP27B1 for ontologies About GeneDecksing
CYP27B1 Antibody Products:
Assay Products for CYP27B1: |
Protein
Domains /
Families
for CYP27B1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CYP27B1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O15528ProtoNet protein and cluster: O15528 1 Blocks protein family: IPB002399 Mitochondrial P450 clan signature
UniProtKB/Swiss-Prot: CP27B_HUMAN, O15528Similarity: Belongs to the cytochrome P450 family |
Function
for CYP27B1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: CP27B_HUMAN, O15528Function: 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 differentiationCatalytic 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 anduptaken by the epithelial cell of the proximal tubule,in a complex with D binding protein,catalyzing the formation ofactive 1,25-dihydroxyvitamin D,tightly regulated by circulating PTH,IGF1,Ca++PO4 and its final product,down-regulatedby 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 (GO ID links to tree view): About this table
CYP27B1 for ontologies About GeneDecksing
Phenotypes:
4 GenomeRNAi human phenotypes for CYP27B1:
11 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Cyp27b1):
CYP27B1 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for CYP27B1: Cyp27b1tm1Star Cyp27b1tm1Hfd Cyp27b1tm1Dgo
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP27B1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP27B1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CYP27B1 (NM_000785) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CYP27B1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP27B1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP27B1 |
|
Pathways & Interactions
for CYP27B1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Vitamin D2 (ergocalciferol) metabolism | | | 2 | Cytochrome P450 - arranged by substrate type | | | 3 | Vitamin D (calciferol) metabolism | | | 4 | Metabolism | | | 5 | Transcription_Role of VDR in regulation of genes involved in osteoporosis | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for CYP27B1
2  GeneGo (Thomson Reuters) Pathways for CYP27B1
5  BioSystems Pathways for CYP27B1
5/9 
Reactome Pathways for CYP27B1 (see all 9)
3 
Kegg Pathways (Kegg details for CYP27B1):
UniProtKB/Swiss-Prot: CP27B_HUMAN, O15528Pathway: 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)
About this table
Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24): About this table
CYP27B1 for ontologies About GeneDecksing
|
Drugs & Compounds
for CYP27B1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
CYP27B1 for compounds About GeneDecksing
Compounds for CYP27B1 available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| Calcipotriol | Vitamin D3 analog | [112965-21-6] | | Calcifediol | Prohormone of calcitriol (Cat. No. 2551). Major circulating form of vitamin D | [19356-17-3] | | Ercalcidiol | Metabolite of vitamin D2 | [21343-40-8] | | Calcitriol | Vitamin D receptor (VDR) agonist | [32222-06-3] | | Doxercalciferol | Vitamin D2 analog, VDR agonist | [54573-75-0] |
10/11 HMDB Compounds for CYP27B1 (see all 11) About this table
4 DrugBank Compounds for CYP27B1 About this table
10/44 Novoseek 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
|
Transcripts
for CYP27B1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for 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_0007856 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000547344 ENST00000228606(uc001spz.1 uc001sqa.1) ENST00000546567(uc001sqb.1)
ENST00000547451(uc001sqc.1) ENST00000552186 ENST00000546496
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP27B1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP27B1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | 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 |
Additional cDNA 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): CA308365 AB005989 BE294472 AI521214 AW051280 AB005038 BG059068 BI820806 Y18643 BU689529 BM931159 AW195105 BU190849 BU163668 BQ651940 NM_000785 AF246895 BC020267 BQ678084 BE294824 BE887016 BM836364 BI259784 AA962620
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
|
Expression
for CYP27B1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CYP27B1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGCAGAAGG
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, O15528Tissue specificity: Kidney
SABiosciences Expression via Pathway-Focused 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 |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP27B1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CYP27B1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CYP27B1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP27B1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP27B1 |
Orthologs
for CYP27B1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for CYP27B1 gene from 4/15 species (see all 15) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
CYP27B16 |
-- |
56(a) |
1 ↔ 1 |
2(66875904-66891879) |
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
for CYP27B1 gene(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 CYP11B22 CYP27C12
10 SIMAP similar genes for CYP27B1 using alignment to 3 protein entries: CP27B_HUMAN (see all proteins):CYP27C1 CYP27A1 CYP21 CYP21A2 CYP11B2 CYP11A1
CYP2J2 CYP24A1 CYP11B1 CYP24
CYP27B1 for paralogs About GeneDecksing
|
Genomic Variants
for CYP27B1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CYP27B1 (58156117 - 58161034 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CYP27B1: --
Human Gene Mutation Database (HGMD): CYP27B1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP27B1 |
|
Disorders
/ Diseases
for CYP27B1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CYP27B1 for disorders About GeneDecksing
OMIM gene information: 609506
OMIM disorders: 264700
UniProtKB/Swiss-Prot: CP27B_HUMAN, O15528
Defects in CYP27B1 are the cause of rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]; also known aspseudovitamin D deficiency rickets (PDDR). 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
20/102  diseases for CYP27B1 (see all 102): About MalaCardsvitamin d-dependent rickets, type i vitamin d-dependent rickets type ii rickets pseudovitamin d deficiency rickets
actinic keratosis cerebrotendinous xanthomatosis williams-beuren syndrome osteoporosis, postmenopausal
hypervitaminosis d diabetes mellitus humoral hypercalcemia of malignancy cholesterol
non-hodgkin lymphoma hypophosphatemia type 2 diabetes mellitus type 1 diabetes mellitus
nephrogenic systemic fibrosis inflammatory bowel disease xanthomatosis hyperparathyroidism
6 diseases from the University of Copenhagen DISEASES database for CYP27B1:Rickets Osteomalacia X-linked hypophosphatemia Secondary hyperparathyroidism
Hypophosphatemia Sick sinus syndrome 10/68 Novoseek 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
|
Publications
for CYP27B1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CYP27B1 gene, integrated from 9 sources (see all 516):
(articles sorted by number of sources associating them with CYP27B1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- A promoter polymorphism of the CYP27B1 gene is associated with Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus in Germans. (PubMed id 15296474)1, 4, 9 Lopez E.R....Badenhoop K. (2004)
- Association study of the vitamin D: 1alpha-hydroxylase (CYP1alpha) gene and type 2 diabetes mellitus in a Polish population. (PubMed id 12746631)1, 4, 9 Malecki M.T....Sieradzki J. (2003)
- Complete structure of the human gene for the vitamin D 1alpha- hydroxylase, P450c1alpha. (PubMed id 9428799)1, 2, 9 Fu G.K.... Miller W.L. (1997)
- Selective use of multiple vitamin D response elements underlies the 1 alpha,25-dihydroxyvitamin D3-mediated negative regulation of the human CYP27B1 gene. (PubMed id 17426122)1, 7, 9 Turunen M.M....Vaisanen S. (2007)
|
External Searches for CYP27B1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing CYP27B1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CYP27B1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CYP27B1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CYP27B1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP27B1 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/cyp27b1/ |
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| | |
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
|
Products
for CYP27B1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
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