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
  • 25-Hydroxyvitamin D-1 Alpha Hydroxylase, Mitochondrial 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(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
  • P450c1 3
  • VDDR I 2
  • VDDRI 3
  • CP2B 3
  • CYP1 3
  • VDDR 3
  • PDDR 3
  • VDD1 3
  • VDR 3

External Ids for CYP27B1 Gene

Previous HGNC Symbols for CYP27B1 Gene

  • VDD1
  • PDDR

Previous GeneCards Identifiers for CYP27B1 Gene

  • GC12M058299
  • GC12M057872
  • GC12M056442
  • GC12M058156
  • GC12M055192

Summaries for CYP27B1 Gene

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 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 Parathyroid hormone synthesis, secretion and action. 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).

Gene Wiki entry for CYP27B1 Gene

Additional gene information for CYP27B1 Gene

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 for CYP27B1 Gene

Promoters and enhancers for CYP27B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J057764 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 500.7 +3.0 2977 3.3 POLR2G TEAD4 CTCF ZBTB5 ZIC2 POLR2A CLOCK ZNF423 GABPA ZBTB26 CYP27B1 piR-56275 TSFM NEMP1 ZBTB39 MBD6 NAB2 ARHGAP9 lnc-CYP27B1-1 RF00017-1166
GH12J057769 Promoter 0.3 EPDnew 500.7 -0.2 -165 0.1 CYP27B1 lnc-CYP27B1-1 EEF1AKMT3 METTL1 RF00017-1166
GH12J057737 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.9 +27.1 27141 9.3 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G SP1 NCOR1 BCLAF1 AGAP2 TSPAN31 TSFM NEMP1 EEF1AKMT3 ARHGAP9 ATP23 DDIT3 ENSG00000224713 CYP27B1
GH12J057863 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 10.1 -95.9 -95932 2.6 ZNF217 NRF1 PHF8 TEAD4 ZFX POLR2A ZBTB11 ZBTB26 CHD1 CTBP1 EEF1AKMT3 NEMP1 TSPAN31 ZBTB39 MIR26A2 CDK4 AVIL RNU6-1083P TSFM MBD6
GH12J057905 Enhancer 1.2 ENCODE dbSUPER 10.7 -136.7 -136665 0.8 RXRA ZNF217 CTCF ZSCAN5C TCF12 MYC USF1 SP1 ZNF639 CLOCK ATP23 MIR26A2 RNU6-1083P CTDSP2 AVIL TSFM CYP27B1 EEF1AKMT3 METTL1 CDK4
- 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

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:
CYP27B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP27B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

neXtProt entry for CYP27B1 Gene

Post-translational modifications for CYP27B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP27B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CYP27B1
  • Boster Bio Antibodies for CYP27B1
  • Santa Cruz Biotechnology (SCBT) Antibodies for CYP27B1

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

Blocks:
  • Mitochondrial P450 clan signature
InterPro:
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

UniProtKB/Swiss-Prot:

CP27B_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP27B1: view

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}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:20574; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:49065; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:49069; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:49049; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by cardiolipin and dioleoyl phosphatidylethanolamine (DOPE), phospholipids found in the inner mitochondrial membrane. Inhibited by high substrate concentration.
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};
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

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with CYP27B1: view
genes like me logo Genes that share phenotypes with CYP27B1: view

Human Phenotype Ontology for CYP27B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP27B1 Gene

MGI Knock Outs for CYP27B1:

Animal Model Products

CRISPR Products

Clone Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP27B1 gene
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

Gene Ontology (GO) - Cellular Components for CYP27B1 Gene

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 --
genes like me logo Genes that share ontologies with CYP27B1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP27B1 Gene

Pathways & Interactions for CYP27B1 Gene

genes like me logo Genes that share pathways with CYP27B1: view

Pathways by source 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.

SIGNOR curated interactions for CYP27B1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CYP27B1 Gene

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
genes like me logo Genes that share ontologies with CYP27B1: view

Drugs & Compounds for CYP27B1 Gene

(37) Drugs for CYP27B1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alfacalcidol Approved Nutra Target Bone resorption inhibitor 79
Calcifediol Approved Nutra Enzyme, substrate Major circulating form of vitamin D3 148
Ergocalciferol Approved Nutra Enzyme, substrate 1534
Vitamin D Approved, Vet_approved Nutra Enzyme, substrate 2068
Oxygen Approved, Vet_approved Pharma 0

(20) Additional Compounds for CYP27B1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with CYP27B1: view

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 :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP27B1 Gene

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 normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYP27B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP27B1 Gene

This gene is overexpressed in Kidney - Cortex (x29.5).

Protein differential expression in normal tissues from HIPED for CYP27B1 Gene

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



Protein tissue co-expression partners for CYP27B1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP27B1

SOURCE GeneReport for Unigene cluster for CYP27B1 Gene:

Hs.524528

mRNA 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
genes like me logo Genes that share expression patterns with CYP27B1: view

Orthologs for CYP27B1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP27B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYP27B1 31 30
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CYP27B1 31 30
  • 87.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CYP27B1 31 30
  • 87.18 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp27b1 17 31 30
  • 81.26 (n)
rat
(Rattus norvegicus)
Mammalia Cyp27b1 30
  • 80.9 (n)
oppossum
(Monodelphis domestica)
Mammalia CYP27B1 31
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 41 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia CYP27B1 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp27b1 30
  • 58.62 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC793309 30
  • 61.37 (n)
CYP27B1 31
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Cyp49a1 32
  • 30 (a)
Cyp12e1 32
  • 29 (a)
Cyp301a1 32
  • 28 (a)
dib 32
  • 27 (a)
Cyp12c1 32
  • 26 (a)
Cyp12d1 32
  • 26 (a)
sad 31
  • 25 (a)
OneToMany
Cyp12a4 32
  • 25 (a)
Cyp12a5 32
  • 25 (a)
Cyp12b2 32
  • 25 (a)
worm
(Caenorhabditis elegans)
Secernentea ccp-44 32
  • 27 (a)
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
genes like me logo Genes that share paralogs with CYP27B1: view

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
rs1057520815 Pathogenic: Vitamin D-dependent rickets, type 1; not provided 57,766,088(-) C/T MISSENSE_VARIANT
rs1161799032 Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] p.Pro497Arg
rs118204007 Pathogenic: Vitamin D-dependent rickets, type 1. Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] 57,764,755(-) G/Cp.Thr321Arg MISSENSE_VARIANT
rs118204008 Pathogenic: Vitamin D-dependent rickets, type 1. Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] 57,763,798(-) G/Ap.Thr409Ile MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CYP27B1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CYP27B1 Gene

Variant ID Type Subtype PubMed ID
nsv470296 CNV loss 18288195
nsv470297 CNV gain 18288195
nsv510601 CNV deletion 20534489
nsv559045 CNV loss 21841781
nsv826384 CNV gain 20364138

Variation tolerance for CYP27B1 Gene

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

Human Gene Mutation Database (HGMD)
CYP27B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP27B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP27B1 Gene

Disorders for CYP27B1 Gene

MalaCards: The human disease database

(44) MalaCards diseases for CYP27B1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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
genes like me logo Genes that share disorders with CYP27B1: view

No data available for Genatlas for CYP27B1 Gene

Publications for CYP27B1 Gene

  1. 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 54
  2. Asthma and genes encoding components of the vitamin D pathway. (PMID: 19852851) Bossé Y … Laprise C (Respiratory research 2009) 3 23 41 54
  3. 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 54
  4. 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 23 41 54
  5. Plasma 1,25 dihydroxy vitamin D3 level and expression of vitamin d receptor and cathelicidin in pulmonary tuberculosis. (PMID: 19219539) Selvaraj P … Alagarasu K (Journal of clinical immunology 2009) 3 23 41 54

Products for CYP27B1 Gene

Sources for CYP27B1 Gene