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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 positio... See more...
Aliases for CYP27B1 Gene
Aliases for CYP27B1 Gene
- Cytochrome P450 Family 27 Subfamily B Member 1 2 3 5
- Calcidiol 1-Monooxygenase 2 3 4
- Cytochrome P450, Family 27, Subfamily B, Polypeptide 1 2 3
- 25-Hydroxyvitamin D-1 Alpha Hydroxylase, Mitochondrial 3 4
- Cytochrome P450 Subfamily XXVIIB Polypeptide 1 3 4
- 25-OHD-1 Alpha-Hydroxylase 3 4
- Cytochrome P450VD1-Alpha 3 4
- Cytochrome P450C1 Alpha 3 4
- Cytochrome P450 27B1 3 4
- VD3 1A Hydroxylase 3 4
- 1alpha(OH)Ase 2 3
- CYP27B 3 4
- P450c1 2 3
- CYP1 2 3
- Cytochrome P450, Subfamily XXVIIB (25-Hydroxyvitamin D-1-Alpha-Hydroxylase), Polypeptide 1 2
- 25-Hydroxyvitamin D(3) 1-Alpha-Hydroxylase 4
- 25 Hydroxyvitamin D3-1-Alpha Hydroxylase 3
- 25-Hydroxyvitamin D3 1alpha-Hydroxylase 2
- EC 1.14.15.18 4
- CYP1alpha 3
- CYP1ALPHA 4
- CYP27B1 5
- VDDR I 2
- VDDRI 3
- CP2B 3
- PDDR 3
- VDD1 3
- VDDR 3
- VDR 3
External Ids for CYP27B1 Gene
- HGNC: 2606
- Entrez Gene: 1594
- Ensembl: ENSG00000111012
- OMIM: 609506
- UniProtKB: O15528
Previous HGNC Symbols for CYP27B1 Gene
- VDD1
- PDDR
Previous GeneCards Identifiers for CYP27B1 Gene
- GC12M058299
- GC12M057872
- GC12M056442
- GC12M058156
- GC12M055192
Summaries 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 Member 1) is a Protein Coding gene. Diseases associated with CYP27B1 include Vitamin D Hydroxylation-Deficient Rickets, Type 1A and Hypocalcemic Vitamin D-Dependent Rickets. Among its related pathways are Cytochrome P450 - arranged by substrate type and Tuberculosis. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP27A1.
UniProtKB/Swiss-Prot Summary for CYP27B1 Gene
-
A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis. Catalyzes the rate-limiting step in the activation of vitamin D in the kidney, namely the hydroxylation of 25-hydroxyvitamin D3/calcidiol at the C1alpha-position to form the hormonally active form of vitamin D3, 1alpha,25-dihydroxyvitamin D3/calcitriol that acts via the vitamin D receptor (VDR) (PubMed:10518789, PubMed:9486994, PubMed:22862690, PubMed:10566658, PubMed:12050193). Has 1alpha-hydroxylase activity on vitamin D intermediates of the CYP24A1-mediated inactivation pathway (PubMed:10518789, PubMed:22862690). Converts 24R,25-dihydroxyvitamin D3/secalciferol to 1-alpha,24,25-trihydroxyvitamin D3, an active ligand of VDR. Also active on 25-hydroxyvitamin D2 (PubMed:10518789). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin (PubMed:22862690).
Additional gene information for CYP27B1 Gene
- HGNC(2606)
- Entrez Gene(1594)
- Ensembl(ENSG00000111012)
- OMIM(609506)
- UniProtKB(O15528)
- Open Targets Platform(ENSG00000111012)
- Monarch Initiative
- Search for CYP27B1 at DataMed
- Search for CYP27B1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP27B1 Gene
Genomics for CYP27B1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CYP27B1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CYP27B1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP27B1
- Top Transcription factor binding sites by QIAGEN in the CYP27B1 gene promoter:
-
- C/EBPalpha
- CREB
- deltaCREB
Genomic Locations for CYP27B1 Gene
Genomic Locations for CYP27B1 Gene
- chr12:57,762,334-57,768,986
- (GRCh38/hg38)
- Size:
- 6,653 bases
- Orientation:
- Minus strand
- chr12:58,156,117-58,162,769
- (GRCh37/hg19)
- Size:
- 6,653 bases
- Orientation:
- Minus strand
Genomic View for CYP27B1 Gene
Genes around CYP27B1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q14.1 by HGNC
- 12q14.1 by Entrez Gene
- 12q14.1 by Ensembl
CYP27B1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CYP27B1 Gene
Proteins for CYP27B1 Gene
-
Protein details for CYP27B1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15528-CP27B_HUMAN
- Recommended name:
- 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
- Protein Accession:
- O15528
- B2RC61
- Q548T3
Protein attributes for CYP27B1 Gene
- Size:
- 508 amino acids
- Molecular mass:
- 56504 Da
- Cofactor:
- Name=heme; Xref=ChEBI:CHEBI:30413;
- Quaternary structure:
- No Data Available
Protein Expression for CYP27B1 Gene
Post-translational modifications for CYP27B1 Gene
Other Protein References for CYP27B1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- NSJ Bioreagents CYP27B1 Antibody
- Creative Diagnostics Anti-Cyp27b1 (aa 266-289) polyclonal antibody
- Creative Biolabs Recombinant Anti-Human CYP27B1 Antibody
- HUABIO Anti-CYP27B1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for CYP27B1
- Novus Biologicals Antibodies for CYP27B1
-
Abcam antibodies for CYP27B1
- Invitrogen Antibodies for CYP27B1 (AFLGC-CYP27B1)
-
Boster Bio Antibodies for CYP27B1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CYP27B1
Protein Products
-
OriGene Purified Proteins for CYP27B1
- Search Origene for MassSpec and Protein Over-expression Lysates for CYP27B1
- Origene Custom Protein Services for CYP27B1
-
Signalway Proteins for CYP27B1
-
Abcam proteins for CYP27B1
Assay Products
No data available for DME Specific Peptides for CYP27B1 Gene
Domains & Families for CYP27B1 Gene
Gene Families for CYP27B1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for CYP27B1 Gene
- InterPro:
- Blocks:
-
- Mitochondrial P450 clan signature
- ProtoNet:
Suggested Antigen Peptide Sequences for CYP27B1 Gene
- GenScript: Design optimal peptide antigens:
-
- Cytochrome p450 27B1 (CP27B_HUMAN)
- HCG2044066 (Q548T3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O15528- Family:
-
- Belongs to the cytochrome P450 family.
Function for CYP27B1 Gene
Molecular function for CYP27B1 Gene
- UniProtKB/Swiss-Prot Function:
- A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis. Catalyzes the rate-limiting step in the activation of vitamin D in the kidney, namely the hydroxylation of 25-hydroxyvitamin D3/calcidiol at the C1alpha-position to form the hormonally active form of vitamin D3, 1alpha,25-dihydroxyvitamin D3/calcitriol that acts via the vitamin D receptor (VDR) (PubMed:10518789, PubMed:9486994, PubMed:22862690, PubMed:10566658, PubMed:12050193). Has 1alpha-hydroxylase activity on vitamin D intermediates of the CYP24A1-mediated inactivation pathway (PubMed:10518789, PubMed:22862690). Converts 24R,25-dihydroxyvitamin D3/secalciferol to 1-alpha,24,25-trihydroxyvitamin D3, an active ligand of VDR. Also active on 25-hydroxyvitamin D2 (PubMed:10518789). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin (PubMed:22862690).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=calcidiol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = calcitriol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:20573, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17823, ChEBI:CHEBI:17933, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738; EC=1.14.15.18; Evidence={ECO:0000269|PubMed:10518789, ECO:0000269|PubMed:10566658, ECO:0000269|PubMed:12050193, ECO:0000269|PubMed:22862690, ECO:0000269|PubMed:9486994};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2 H(+) + O2 + 2 reduced [adrenodoxin] + secalciferol = calcitetrol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:49064, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:28818, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:47799; EC=1.14.15.18; Evidence={ECO:0000269|PubMed:10518789};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=25-hydroxy-24-oxocalciol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = (1S)-1,25-dihydroxy-24-oxocalciol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:49068, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:47805, ChEBI:CHEBI:47812; Evidence={ECO:0000269|PubMed:22862690};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=25-hydroxyvitamin D2 + 2 H(+) + O2 + 2 reduced [adrenodoxin] = 1alpha,25-dihydroxyvitamin D2 + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:49048, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:86319, ChEBI:CHEBI:86320; Evidence={ECO:0000269|PubMed:22862690};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=2.7 uM for 25-hydroxyvitamin D3 {ECO:0000269|PubMed:10518789}; KM=1.1 uM for 24,25-dihydroxyvitamin D3 {ECO:0000269|PubMed:10518789}; KM=0.9 uM for 25-hydroxyvitamin D3 {ECO:0000269|PubMed:22862690}; Vmax=3.9 pmol/min/mg enzyme toward 25-hydroxyvitamin D3 {ECO:0000269|PubMed:10518789}; Vmax=3.2 pmol/min/mg enzyme toward 24,25-dihydroxyvitamin D3 {ECO:0000269|PubMed:10518789}; Vmax=1.3 nmol/min/mg enzyme toward 25-hydroxyvitamin D3 {ECO:0000269|PubMed:22862690};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activated by cardiolipin and dioleoyl phosphatidylethanolamine (DOPE), phospholipids found in the inner mitochondrial membrane. Inhibited by high substrate concentration.
- GENATLAS Biochemistry:
- 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 Numbers (IUBMB) for CYP27B1 Gene
Phenotypes From GWAS Catalog for CYP27B1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004497 | monooxygenase activity | IEA | -- |
| GO:0004498 | calcidiol 1-monooxygenase activity | TAS | -- |
| GO:0005506 | iron ion binding | IEA | -- |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016705 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | IEA | -- |
Phenotypes for CYP27B1 Gene
- MGI mutant phenotypes for CYP27B1:
-
inferred from 5 alleles
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- renal/urinary system phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for CYP27B1:
-
- no effect
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Synthetic lethal with Ras
- Reduced mammosphere formation
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Increased cell number in G1, average or increased nuclei size in G1
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Increased nuclear migration speed
Animal Models for CYP27B1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CYP27B1 - Select products 50% OFF >
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OriGene CRISPR knockouts for CYP27B1
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-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP27B1
miRNA for CYP27B1 Gene
- miRTarBase miRNAs that target CYP27B1
-
- hsa-miR-26b-5p (MIRT029947)
- hsa-miR-31-5p (MIRT049861)
- hsa-miR-16-5p (MIRT051080)
- hsa-miR-6894-3p (MIRT711954)
- hsa-miR-8059 (MIRT711955)
- hsa-miR-4471 (MIRT711956)
- hsa-miR-1292-5p (MIRT711957)
- hsa-miR-6882-3p (MIRT711958)
- hsa-miR-4290 (MIRT711959)
- hsa-miR-5681a (MIRT711960)
- hsa-miR-18a-3p (MIRT711961)
- hsa-miR-1178-5p (MIRT711962)
- hsa-miR-1827 (MIRT763035)
- hsa-miR-2682-5p (MIRT764280)
- hsa-miR-34b-5p (MIRT765814)
- hsa-miR-4311 (MIRT768549)
- hsa-miR-449c-5p (MIRT769796)
- hsa-miR-548au-3p (MIRT774228)
- hsa-miR-6758-5p (MIRT778425)
- hsa-miR-6856-5p (MIRT780487)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYP27B1
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP27B1
Clone Products
- Applied Biological Materials (abm): Clones for CYP27B1 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for CYP27B1
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Cell Line Products
-
Horizon Cell Lines for CYP27B1
No data available for Transcription Factor Targets and HOMER Transcription for CYP27B1 Gene
Localization for CYP27B1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CYP27B1 Gene
- Mitochondrion membrane.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 3 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA | 15589699 |
| GO:0005739 | mitochondrion | TAS | 9333115 |
| GO:0005741 | mitochondrial outer membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0031966 | mitochondrial membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP27B1 Gene
Pathways & Interactions for CYP27B1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type |
.01
Vitamin D2 (ergocalciferol) metabolism
.01
|
|
| 2 | Metabolism |
.40
|
|
| 3 | Metabolism of fat-soluble vitamins | ||
| 4 | Parathyroid hormone synthesis, secretion and action | ||
| 5 | cholesterol biosynthesis III (via desmosterol) | ||
Pathways by source for CYP27B1 Gene
5 BioSystems pathways for CYP27B1 Gene
8 Reactome pathways for CYP27B1 Gene
4 KEGG pathways for CYP27B1 Gene
2 GeneGo (Thomson Reuters) pathways for CYP27B1 Gene
- Transcription_Role of VDR in regulation of genes involved in osteoporosis
- Vitamin D2 (ergocalciferol) metabolism
UniProtKB/Swiss-Prot O15528-CP27B_HUMAN
- Pathway: Hormone biosynthesis; vitamin D biosynthesis.
Interacting Proteins for CYP27B1 Gene
GPS-Prot Interaction Network for CYP27B1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006766 | vitamin metabolic process | TAS | -- |
| GO:0006816 | calcium ion transport | IEA,ISS | -- |
| GO:0008285 | negative regulation of cell proliferation | IDA | 16549446 |
| GO:0010956 | negative regulation of calcidiol 1-monooxygenase activity | IDA | 16549446 |
| GO:0010980 | positive regulation of vitamin D 24-hydroxylase activity | IDA | 16549446 |
Drugs & Compounds for CYP27B1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Alfacalcidol | Approved | Nutra | Target | Bone resorption inhibitor | 57 | |
| Calcifediol | Approved | Nutra | Enzyme, substrate | Major circulating form of vitamin D3 | 150 | |
| Ergocalciferol | Approved | Nutra | Enzyme, substrate | 415 | ||
| Vitamin D | Approved, Vet_approved | Nutra | Enzyme, substrate | 2168 | ||
| Oxygen | Approved, Vet_approved | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Hydrogen Ion |
|
|
Transcripts for CYP27B1 Gene
mRNA/cDNA for CYP27B1 Gene
- 1 REFSEQ mRNAs :
- 20 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000547344 2474 nts (view in UCSC)
- ENST00000228606 2372 nts (view in UCSC)
- ENST00000546567 976 nts (view in UCSC)
- ENST00000547451 973 nts (view in UCSC)
- ENST00000546609 702 nts (view in UCSC)
CRISPR Products
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miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for CYP27B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYP27B1
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||
| SP4: |
Relevant External Links for CYP27B1 Gene
- GeneLoc Exon Structure for
- CYP27B1
Expression for CYP27B1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Proximal Tubule Cells Proximal Tubule
- Proximal Tubule
-
Epithelial Cells
- Proximal Tubule Cells Proximal Tubule
mRNA differential expression in normal tissues according to GTEx for CYP27B1 Gene
This gene is overexpressed in Kidney - Cortex (x29.5).
This gene is overexpressed in Plasma (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP27B1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP27B1
SOURCE GeneReport for Unigene cluster for CYP27B1 Gene:
Hs.524528mRNA Expression by UniProt/SwissProt for CYP27B1 Gene:
O15528-CP27B_HUMAN
Tissue specificity:
Kidney.
Evidence on tissue expression from TISSUES for CYP27B1 Gene
- Kidney(4.8)
- Thyroid gland(2.8)
- Liver(2.7)
- Blood(2.6)
- Intestine(2.6)
- Bone(2.4)
- Skin(2.3)
- Lymph node(2.1)
- Spleen(2.1)
- Nervous system(2.1)
- Muscle(2)
- Urine(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP27B1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- ear
- face
- forehead
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- parathyroid
- skull
- thyroid
- tooth
Thorax:
- chest wall
- clavicle
- diaphragm
- heart
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- biliary tract
- kidney
- liver
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- red blood cell
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for CYP27B1
-
OriGene qPCR primer pairs and template standards for CYP27B1
Gene Expression Assay Products
Orthologs for CYP27B1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CYP27B1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CYP27B1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CYP27B1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Cyp27b1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cyp27b1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | CYP27B1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | CYP27B1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cyp27b1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC793309 30 |
|
||
| CYP27B1 31 |
|
OneToOne | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Cyp49a1 32 |
|
|
|
| Cyp12e1 32 |
|
|
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| Cyp301a1 32 |
|
|
|||
| dib 32 |
|
|
|||
| Cyp12c1 32 |
|
|
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| Cyp12d1 32 |
|
|
|||
| sad 31 |
|
OneToMany | |||
| Cyp12a4 32 |
|
|
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| Cyp12a5 32 |
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| Cyp12b2 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | ccp-44 32 |
|
|
- Species where no ortholog for CYP27B1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for CYP27B1 Gene
- ENSEMBL:
- Gene Tree for CYP27B1 (if available)
- TreeFam:
- Gene Tree for CYP27B1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CYP27B1: view image
Paralogs for CYP27B1 Gene
Variants for CYP27B1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP27B1 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1671 | Pathogenic: Vitamin D-dependent rickets, type 1 | 57,766,006(-) | C/T | SPLICE_DONOR_VARIANT | |
| 711097 | Likely Benign: not provided | 57,766,940(-) | G/C | SYNONYMOUS_VARIANT | |
| 722611 | Likely Benign: not provided | 57,766,008(-) | C/T | MISSENSE_VARIANT | |
| 723672 | Likely Benign: not provided | 57,766,988(-) | C/T | SYNONYMOUS_VARIANT | |
| 732797 | Likely Benign: not provided | 57,763,261(-) | A/G | INTRON_VARIANT |
Residual Variation Intolerance Score:
22.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.30;
41.13% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CYP27B1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP27B1 Gene
Disorders for CYP27B1 Gene
(45) MalaCards diseases for CYP27B1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| vitamin d hydroxylation-deficient rickets, type 1a |
|
|
| hypocalcemic vitamin d-dependent rickets |
|
|
| rickets |
|
|
| vitamin d-dependent rickets, type 2a |
|
|
| secondary hyperparathyroidism |
|
Search CYP27B1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CP27B_HUMAN- 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. {ECO:0000269 PubMed:10320521, ECO:0000269 PubMed:10566658, ECO:0000269 PubMed:12050193, ECO:0000269 PubMed:9486994, ECO:0000269 PubMed:9837822}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CYP27B1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for CYP27B1 Gene
Publications for CYP27B1 Gene
- Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase. (PMID: 9344864) Monkawa T … Saruta T (Biochemical and biophysical research communications 1997) 2 3 4 23
- A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy. (PMID: 19783860) Martin RJ … Warren 3/UK GoKinD Study Group (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2010) 3 23 41
- Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis. (PMID: 20007432) Simon KC … Ascherio A (Multiple sclerosis (Houndmills, Basingstoke, England) 2010) 3 23 41
- Vitamin D related genes, CYP24A1 and CYP27B1, and colon cancer risk. (PMID: 19706847) Dong LM … Peters U (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 23 41
- Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer. (PMID: 19505920) Beuten J … Leach RJ (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 23 41
ExternalLinks
Products for CYP27B1 Gene
- Custom Antibody ServicesOriGene Antibodies for CYP27B1
- Browse OriGene ELISA Kits
- Custom Assay Services
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- Browse OriGene Inhibitory RNA Products For CYP27B1
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- OriGene qPCR primer pairs and template standards for CYP27B1
- OriGene CRISPR knockouts for CYP27B1
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- Browse OriGene miRNA Products For CYP27B1
- Sino Biological Human cDNA Clone for CYP27B1
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals proteins and lysates for CYP27B1
- Browse Antibodies
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- Abcam antibodies for CYP27B1
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- Invitrogen Antibodies for CYP27B1 (AFLGC-CYP27B1)
- VectorBuilder Custom and pre-made DNA vectors for CYP27B1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CYP27B1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CYP27B1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CYP27B1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CYP27B1
- antibodies-online: Show 8 available CYP27B1 Antibodies ranked by validation data
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- antibodies-online: Show 19 available CYP27B1 Elisa Kits ranked by validation data
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- antibodies-online: Show 5 available CYP27B1 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for CYP27B1
- Search Santa Cruz Biotechnology (SCBT) for CYP27B1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CYP27B1
- Horizon Cell Lines for CYP27B1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYP27B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYP27B1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CYP27B1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP27B1
- Boster Bio Antibodies for CYP27B1
- Browse Boster Bio ELISA Kits
Sources for CYP27B1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB