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
- 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
- Cytochrome P450, Subfamily XXVIIB (25-Hydroxyvitamin D-1-Alpha-Hydroxylase), Polypeptide 1 2
- 25-Hydroxyvitamin D-1 Alpha Hydroxylase, Mitochondrial 3
- 25-Hydroxyvitamin D(3) 1-Alpha-Hydroxylase 4
- 25 Hydroxyvitamin D3-1-Alpha Hydroxylase 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 Metabolism. 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 for CYP27B1 Gene
-
Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D3) to 1-alpha,25-dihydroxyvitamin D3 (1alpha,25(OH)(2)D3), and of 24,25-dihydroxyvitamin D3 (24,25(OH)(2)D3) to 1-alpha,24,25-trihydroxyvitamin D3 (1alpha,24,25(OH)(3)D3). Is also active with 25-hydroxy-24-oxo-vitamin D3. Plays an important role in normal bone growth, calcium metabolism, and tissue differentiation.
Additional gene information for CYP27B1 Gene
- Monarch Initiative
- Search for CYP27B1 at DataMed
- Search for CYP27B1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP27B1 Gene
Genomics for CYP27B1 Gene
GeneHancer (GH) Regulatory Elements for CYP27B1 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CYP27B1 gene promoter:
-
- CREB
- deltaCREB
- C/EBPalpha
Regulatory Element Products
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 Entrez Gene
- 12q14.1 by HGNC
- 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
-
Custom Antibody ServicesOriGene Antibodies for CYP27B1
- Novus Biologicals Antibodies for CYP27B1
-
Abcam antibodies for CYP27B1
- Invitrogen Antibodies for CYP27B1 (AFLGC-CYP27B1)
- GeneTex CYP27B1 Antibody for 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
- Search GeneTex for 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:
- ProtoNet:
Suggested Antigen Peptide Sequences for CYP27B1 Gene
- GenScript: Design optimal peptide antigens:
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:
- Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D3) to 1-alpha,25-dihydroxyvitamin D3 (1alpha,25(OH)(2)D3), and of 24,25-dihydroxyvitamin D3 (24,25(OH)(2)D3) to 1-alpha,24,25-trihydroxyvitamin D3 (1alpha,24,25(OH)(3)D3). Is also active with 25-hydroxy-24-oxo-vitamin D3. Plays an important role in normal bone growth, calcium metabolism, and tissue differentiation.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Calcidiol + 2 reduced adrenodoxin + 2 H(+) + O(2) = calcitriol + 2 oxidized adrenodoxin + H(2)O.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Secalciferol + 2 reduced adrenodoxin + 2 H(+) + O(2) = calcitetrol + 2 oxidized adrenodoxin + H(2)O.
- 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}; Vmax=3.9 pmol/min/mg enzyme with 25-hydroxyvitamin D3 as substrate {ECO:0000269 PubMed:10518789}; Vmax=3.2 pmol/min/mg enzyme with 24,25-dihydroxyvitamin D3 as substrate {ECO:0000269 PubMed:10518789};
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| 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 | -- |
| GO:0020037 | heme binding | IEA | -- |
Phenotypes for CYP27B1 Gene
- MGI mutant phenotypes for CYP27B1:
-
inferred from 5 alleles
- cardiovascular system phenotype
- limbs/digits/tail phenotype
- homeostasis/metabolism phenotype
- behavior/neurological phenotype
- integument phenotype
- endocrine/exocrine gland phenotype
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- reproductive system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for CYP27B1:
-
- Dynamic nuclei (hole, folded or small irregular)
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Reduced mammosphere formation
- Decreased viability
- no effect
- Synthetic lethal with Ras
- Increased cell number in S
- Increased transferrin (TF) endocytosis
Animal Models for CYP27B1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CYP27B1
-
CRISPR Products
-
OriGene CRISPR knockouts for CYP27B1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYP27B1
- genomics-online: gRNA clones - Search results for 81 available CYP27B1 gene related products
- Overview of 81 available CYP27B1 gene related products
- Applied Biological Materials CRISPR for CYP27B1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP27B1
- GenScript: Design CRISPR guide RNA sequences 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
- Browse OriGene Inhibitory RNA Products For CYP27B1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP27B1
- genomics-online: shRNA clones - Search results for 81 available CYP27B1 gene related products
- Overview of 81 available CYP27B1 gene related products
Clone Products
- GenScript: Custom all cDNA clones Services for CYP27B1
- Sino Biological Human cDNA Clone for CYP27B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYP27B1
- Applied Biological Materials Clones for CYP27B1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CYP27B1
No data available for Phenotypes From GWAS Catalog , 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 |
| extracellular | 1 |
| peroxisome | 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
|
|
| 2 | Metabolism |
.37
|
|
| 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
UniProtKB/Swiss-Prot O15528-CP27B_HUMAN
- Pathway: Hormone biosynthesis; cholecalciferol 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 | ISS,IEA | -- |
| 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 |
No data available for SIGNOR curated interactions for CYP27B1 Gene
Drugs & Compounds for CYP27B1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Alfacalcidol | Approved | Nutra | Target | Bone resorption inhibitor | 68 | |
| Calcidiol | Approved | Nutra | Enzyme, substrate | 0 | ||
| Ergocalciferol | Approved | Nutra | Enzyme, substrate | 1362 | ||
| Vitamin D | Approved, Vet_approved | Nutra | Enzyme, substrate | 1796 | ||
| Oxygen | Approved, Vet_approved | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Hydrogen Ion |
|
|
||||
| NADP |
|
53-59-8 |
|
|||
| nadph |
|
53-57-6 |
|
Drug Products
Transcripts for CYP27B1 Gene
mRNA/cDNA for CYP27B1 Gene
- (1) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (201) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000547344 2474 bps (uc058qcl.1)
- ENST00000228606 2540 bps (uc001spz.2)
- ENST00000546567 976 bps (uc001sqb.2)
- ENST00000547451 973 bps (uc058qcm.1)
- ENST00000546609 702 bps (uc058qcn.1)
Unigene Clusters for CYP27B1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CYP27B1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYP27B1
- genomics-online: gRNA clones - Search results for 81 available CYP27B1 gene related products
- Overview of 81 available CYP27B1 gene related products
- Applied Biological Materials CRISPR for CYP27B1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP27B1
- GenScript: Design CRISPR guide RNA sequences for CYP27B1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYP27B1
- Browse OriGene Inhibitory RNA Products For CYP27B1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP27B1
- genomics-online: shRNA clones - Search results for 81 available CYP27B1 gene related products
- Overview of 81 available CYP27B1 gene related products
Clone Products
- GenScript: Custom all cDNA clones Services for CYP27B1
- Sino Biological Human cDNA Clone for CYP27B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYP27B1
- Applied Biological Materials Clones for CYP27B1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||
| SP4: |
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
NURSA nuclear receptor signaling pathways regulating expression of CYP27B1 Gene:
CYP27B1SOURCE 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(4.7)
- Intestine(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
- genomics-online: primer clones - Search results for 81 available CYP27B1 gene related products
- Overview of 81 available CYP27B1 gene related products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CYP27B1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CYP27B1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cyp27b1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cyp27b1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CYP27B1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| lizard (Anolis carolinensis) |
Reptilia | CYP27B1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cyp27b1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC793309 33 |
|
||
| CYP27B1 34 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Cyp49a1 35 |
|
|
|
| Cyp12e1 35 |
|
|
|||
| Cyp301a1 35 |
|
|
|||
| dib 35 |
|
|
|||
| Cyp12c1 35 |
|
|
|||
| Cyp12d1 35 |
|
|
|||
| sad 34 |
|
OneToMany | |||
| Cyp12a4 35 |
|
|
|||
| Cyp12a5 35 |
|
|
|||
| Cyp12b2 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | ccp-44 35 |
|
|
- Species where no ortholog for CYP27B1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
Paralogs for CYP27B1 Gene
(9) SIMAP similar genes for CYP27B1 Gene using alignment to 4 proteins:
- CP27B_HUMAN
- F8VWR7_HUMAN
- Q9UP42_HUMAN
- V9GYP0_HUMAN
Variants for CYP27B1 Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1006298407 | uncertain-significance, Vitamin D-Dependent Rickets | 57,762,420(-) | G/A/C | 3_prime_UTR_variant | |
| rs118204007 | pathogenic, Vitamin D-dependent rickets, type 1, Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] | 57,764,755(-) | G/C | coding_sequence_variant, missense_variant | |
| rs118204008 | pathogenic, Vitamin D-dependent rickets, type 1, Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] | 57,763,798(-) | G/A | coding_sequence_variant, missense_variant | |
| rs118204009 | pathogenic, likely-pathogenic, Vitamin D-dependent rickets, type 1, Vitamin D-Dependent Rickets, not provided, Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] | 57,764,147(-) | C/T | coding_sequence_variant, missense_variant | |
| rs118204010 | pathogenic, Vitamin D-dependent rickets, type 1, Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700], Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] | 57,764,148(-) | G/A/C | coding_sequence_variant, missense_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
(18) MalaCards diseases for CYP27B1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| vitamin d hydroxylation-deficient rickets, type 1a |
|
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| hypocalcemic vitamin d-dependent rickets |
|
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| rickets |
|
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| vitamin d-dependent rickets, type 2a |
|
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| secondary hyperparathyroidism of renal origin |
|
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
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 22 58
- Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. (PMID: 19255064) Ahn J … Prostate, Lung, Colorectal and Ovarian Trial Project Team (Carcinogenesis 2009) 3 22 44 58
- 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 22 44 58
- 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 22 44 58
- Asthma and genes encoding components of the vitamin D pathway. (PMID: 19852851) Bossé Y … Laprise C (Respiratory research 2009) 3 22 44 58
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Sources for CYP27B1 Gene
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