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Aliases for CYP27B1 Gene

Aliases for CYP27B1 Gene

  • Cytochrome P450 Family 27 Subfamily B Member 1 2 3 5
  • 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
  • Calcidiol 1-Monooxygenase 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
  • CYP1alpha 3 4
  • 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 4
  • VDDR I 2
  • P450c1 3
  • VDDRI 3
  • CYP1 3
  • CP2B 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-Dependent Rickets, Type I and Hypocalcemic Vitamin D-Dependent Rickets. Among its related pathways are Vitamin D synthesis and cytochrome P450. 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 CYP11B1.

UniProtKB/Swiss-Prot for CYP27B1 Gene

  • 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.

Gene Wiki entry for CYP27B1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP27B1 Gene

Genomics for CYP27B1 Gene

Regulatory Elements for CYP27B1 Gene

Enhancers for CYP27B1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CYP27B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP27B1 Gene

57,762,334 bp from pter
57,768,986 bp from pter
6,653 bases
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:
    Recommended name:
    25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2RC61
    • Q548T3

    Protein attributes for CYP27B1 Gene

    508 amino acids
    Molecular mass:
    56504 Da
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

neXtProt entry for CYP27B1 Gene

Proteomics data for CYP27B1 Gene at MOPED

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

  • Cloud-Clone Corp. Antibodies for CYP27B1

No data available for DME Specific Peptides for CYP27B1 Gene

Domains & Families for CYP27B1 Gene

Gene Families for CYP27B1 Gene

Protein Domains for CYP27B1 Gene

Suggested Antigen Peptide Sequences for CYP27B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cytochrome P450 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

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
UniProtKB/Swiss-Prot CatalyticActivity:
Calcidiol + NADPH + O(2) = calcitriol + NADP(+) + H(2)O.
UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D) to 1-alpha,25-dihydroxyvitamin D3 (1,25(OH)2D) plays an important role in normal bone growth, calcium metabolism, and tissue differentiation.

Enzyme Numbers (IUBMB) for CYP27B1 Gene

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

No data available for Gene Ontology (GO) - Molecular Function , 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

Jensen Localization Image for CYP27B1 Gene COMPARTMENTS Subcellular localization image for CYP27B1 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for CYP27B1 Gene

Pathways & Interactions for CYP27B1 Gene

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

UniProtKB/Swiss-Prot O15528-CP27B_HUMAN

  • Pathway: Hormone biosynthesis; cholecalciferol biosynthesis.

Gene Ontology (GO) - Biological Process for CYP27B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
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

No data available for SIGNOR curated interactions for CYP27B1 Gene

Drugs & Compounds for CYP27B1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alfacalcidol Approved Nutra Target Bone resorption inhibitor 47
Calcidiol Approved Nutra Enzyme, substrate 0
Ergocalciferol Approved Nutra Enzyme, substrate 1192
Calcitriol Approved Nutra TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist 191
Corticotropin Approved Pharma Enzyme, inducer 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
  • 1,25-Dihydroxycalciferol
  • 1,25-Dihydroxyergocalciferol
  • 1,25-Dihydroxyvitamin D2
  • 1a,25-Dihydroxycalciferol
  • 1a,25-Dihydroxyergocalciferol
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
  • 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
genes like me logo Genes that share compounds with CYP27B1: view

Transcripts for CYP27B1 Gene

Unigene Clusters for CYP27B1 Gene

Cytochrome P450, family 27, subfamily B, polypeptide 1:
Representative Sequences:

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: -

Relevant External Links for CYP27B1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CYP27B1 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for CYP27B1 Gene

SOURCE GeneReport for Unigene cluster for CYP27B1 Gene Hs.524528

mRNA Expression by UniProt/SwissProt for CYP27B1 Gene

Tissue specificity: Kidney.
genes like me logo Genes that share expression patterns with CYP27B1: view

Protein tissue co-expression partners for CYP27B1 Gene

Primer Products

Orthologs for CYP27B1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP27B1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CYP27B1 35
  • 87.18 (n)
  • 88.76 (a)
CYP27B1 36
  • 89 (a)
(Canis familiaris)
Mammalia CYP27B1 35
  • 87.34 (n)
  • 88.39 (a)
CYP27B1 36
  • 88 (a)
(Mus musculus)
Mammalia Cyp27b1 35
  • 81.26 (n)
  • 81.66 (a)
Cyp27b1 16
Cyp27b1 36
  • 82 (a)
(Pan troglodytes)
Mammalia CYP27B1 35
  • 99.41 (n)
  • 99.61 (a)
CYP27B1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Cyp27b1 35
  • 80.9 (n)
  • 82.44 (a)
(Monodelphis domestica)
Mammalia CYP27B1 36
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 41 (a)
(Anolis carolinensis)
Reptilia CYP27B1 36
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp27b1 35
  • 58.62 (n)
  • 56.09 (a)
(Danio rerio)
Actinopterygii LOC793309 35
  • 61.37 (n)
  • 55.15 (a)
CYP27B1 36
  • 52 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cyp12a4 37
  • 25 (a)
Cyp12a5 37
  • 25 (a)
Cyp12b2 37
  • 25 (a)
Cyp12c1 37
  • 26 (a)
Cyp12d1 37
  • 26 (a)
Cyp12e1 37
  • 29 (a)
Cyp301a1 37
  • 28 (a)
Cyp49a1 37
  • 30 (a)
dib 37
  • 27 (a)
sad 36
  • 25 (a)
(Caenorhabditis elegans)
Secernentea ccp-44 37
  • 27 (a)
Species with no ortholog for CYP27B1:
  • 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

Gene Tree for CYP27B1 (if available)
Gene Tree for CYP27B1 (if available)

Paralogs for CYP27B1 Gene

Paralogs for CYP27B1 Gene

(9) SIMAP similar genes for CYP27B1 Gene using alignment to 4 proteins:

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

Variants for CYP27B1 Gene

Sequence variations from dbSNP and Humsavar for CYP27B1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs28934604 Rickets vitamin D-dependent 1A (VDDR1A) 57,766,073(-) CGAGC(A/G)CTGCA reference, missense
rs28934605 Rickets vitamin D-dependent 1A (VDDR1A) 57,766,019(-) TTGCG(A/G)ACTGC reference, missense
VAR_016954 Rickets vitamin D-dependent 1A (VDDR1A)
VAR_016955 Rickets vitamin D-dependent 1A (VDDR1A)
rs28934606 Rickets vitamin D-dependent 1A (VDDR1A) 57,764,510(-) CTCCC(A/C/G)GCACC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv899121 CNV Loss 21882294
nsv470296 CNV Loss 18288195
nsv826384 CNV Gain 20364138
nsv510601 CNV Loss 20534489
nsv470297 CNV Gain 18288195

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)

Relevant External Links for CYP27B1 Gene

Human Gene Mutation Database (HGMD)

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

Disorders for CYP27B1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for CYP27B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
vitamin d-dependent rickets, type i
  • vitamin d-dependent rickets type i
hypocalcemic vitamin d-dependent rickets
  • 1-alpha-hydroxylase deficiency
  • active rickets
vitamin d-dependent rickets type ii
  • rickets-alopecia syndrome
x-linked hypophosphatemic rickets
  • hypophosphatemic rickets, x-linked dominant
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Relevant External Links for CYP27B1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
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. (Biochem. Biophys. Res. Commun. 1997) 2 3 4 23 67
  2. Selective use of multiple vitamin D response elements underlies the 1 alpha,25-dihydroxyvitamin D3-mediated negative regulation of the human CYP27B1 gene. (PMID: 17426122) Turunen M.M. … VAoisAonen S. (Nucleic Acids Res. 2007) 3 23 25 26
  3. Vitamin D(3) metabolism in human glioblastoma multiforme: functionality of CYP27B1 splice variants, metabolism of calcidiol, and effect of calcitriol. (PMID: 16061850) Diesel B. … Meese E. (Clin. Cancer Res. 2005) 3 23 25 26
  4. Cytochromes P450 are essential players in the vitamin D signaling system. (PMID: 20619365) Schuster I. (Biochim. Biophys. Acta 2011) 3 25 26
  5. Measurement of vitamin D status: background, clinical use, and methodologies. (PMID: 16955631) Hart G.R. … Durham S.K. (Clin. Lab. 2006) 23 25 26

Products for CYP27B1 Gene

Sources for CYP27B1 Gene