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Aliases for CYP27B1 Gene

Aliases for CYP27B1 Gene

  • 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
  • PDDR 3 6
  • VDD1 3 6
  • 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
  • 25-Hydroxyvitamin D3 1alpha-Hydroxylase 2
  • EC 1.14.13.13 4
  • VDDR I 2
  • P450c1 3
  • VDDRI 3
  • CP2B 3
  • CYP1 3
  • VDDR 3
  • VDR 3

External Ids for CYP27B1 Gene

Previous Symbols for CYP27B1 Gene

  • VDD1
  • PDDR

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, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP27B1 include actinic keratosis and hypocalcemic vitamin d-dependent rickets. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP11A1.

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

Genomic Location for CYP27B1 Gene

Start:
57,762,334 bp from pter
End:
57,768,986 bp from pter
Size:
6,653 bases
Orientation:
Minus strand

Genomic View for CYP27B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYP27B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP27B1 Gene

Regulatory Elements 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

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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CYP27B1 Gene

Domains for CYP27B1 Gene

Gene Families for CYP27B1 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

Protein Domains for CYP27B1 Gene

UniProtKB/Swiss-Prot:

CP27B_HUMAN
Family:
  • Belongs to the cytochrome P450 family.:
    • O15528
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

Gene Ontology (GO) - Molecular Function for CYP27B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004498 calcidiol 1-monooxygenase activity IDA 15795327
GO:0005506 iron ion binding IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
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

Animal Models for CYP27B1 Gene

MGI Knock Outs for CYP27B1:

miRNA for CYP27B1 Gene

miRTarBase miRNAs that target CYP27B1

No data available for Transcription Factor Targeting 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
Jensen Localization Image for CYP27B1 Gene COMPARTMENTS Subcellular localization image for CYP27B1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2
extracellular 1
plasma membrane 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 --
genes like me logo Genes that share ontologies with CYP27B1: view

Pathways 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:0006816 calcium ion transport ISS --
GO:0008202 steroid metabolic process TAS --
GO:0008285 negative regulation of cell proliferation IDA 16549446
genes like me logo Genes that share ontologies with CYP27B1: view

Compounds for CYP27B1 Gene

(11) HMDB Compounds for CYP27B1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcidiol
  • 25-Hydroxyvitamin D3
19356-17-3
Calcitriol
  • (3b,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trienetriol
32222-06-3
Calcium
  • Ca
7440-70-2
Ercalcitriol
  • 1,25-Dihydroxycalciferol
60133-18-8
Ergocalciferol
  • (+)-Vitamin D2
50-14-6

(4) Drugbank Compounds for CYP27B1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alfacalcidol
  • 1-hydroxycholecalciferol
41294-56-8 target
Calcidiol
  • Calcifediol
19356-17-3 enzyme substrate
Corticotropin
  • ACTH
9002-60-2 enzyme inducer
Ergocalciferol
  • Synthetic Vitamin D
50-14-6 enzyme substrate

(44) Novoseek inferred chemical compound relationships for CYP27B1 Gene

Compound -log(P) Hits PubMed IDs
calcitriol 95.5 141
vitamin d 94.6 204
25-hydroxyvitamin d 90.9 76
1,25 dihydroxy vitamin d3 85.5 37
1alpha,25-dihydroxyvitamin d3-26,23-lactone 83.9 1
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: -
SP4:

Relevant External Links for CYP27B1 Gene

GeneLoc Exon Structure for
CYP27B1
ECgene alternative splicing isoforms for
CYP27B1

Expression for CYP27B1 Gene

mRNA expression in normal human tissues for CYP27B1 Gene

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

This gene is overexpressed in Kidney - Cortex (29.5).

Integrated Proteomics: protein expression 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

O15528-CP27B_HUMAN
Tissue specificity: Kidney
genes like me logo Genes that share expressions 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 36
  • 99.41 (n)
  • 99.61 (a)
CYP27B1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CYP27B1 36
  • 87.18 (n)
  • 88.76 (a)
CYP27B1 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP27B1 36
  • 87.34 (n)
  • 88.39 (a)
CYP27B1 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp27b1 36
  • 81.26 (n)
  • 81.66 (a)
Cyp27b1 16
Cyp27b1 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYP27B1 37
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 41 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Cyp27b1 36
  • 80.9 (n)
  • 82.44 (a)
lizard
(Anolis carolinensis)
Reptilia CYP27B1 37
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp27b1 36
  • 58.62 (n)
  • 56.09 (a)
zebrafish
(Danio rerio)
Actinopterygii CYP27B1 37
  • 52 (a)
OneToOne
LOC793309 36
  • 61.37 (n)
  • 55.15 (a)
fruit fly
(Drosophila melanogaster)
Insecta sad 37
  • 25 (a)
OneToMany
Cyp301a1 38
  • 28 (a)
Cyp12b2 38
  • 25 (a)
Cyp12c1 38
  • 26 (a)
Cyp49a1 38
  • 30 (a)
Cyp12a5 38
  • 25 (a)
dib 38
  • 27 (a)
Cyp12a4 38
  • 25 (a)
Cyp12d1 38
  • 26 (a)
Cyp12e1 38
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea ccp-44 38
  • 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

ENSEMBL:
Gene Tree for CYP27B1 (if available)
TreeFam:
Gene Tree for CYP27B1 (if available)

Paralogs for CYP27B1 Gene

Paralogs for CYP27B1 Gene

Selected 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 MAF
rs2229103 -- 57,764,393(-) GGTGG(C/T)CAAGG missense, reference
rs2307096 -- 57,764,961(+) CGCTA(C/T)CCCTG intron-variant
rs2427640 -- 57,765,214(-) CCGAC(A/G)AGGCA intron-variant
rs2427641 -- 57,766,766(-) GCAGA(C/G)CAAAT intron-variant
rs2454749 -- 57,766,658(-) TCTTA(G/T)CAGAG intron-variant

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

Relevant External Links for CYP27B1 Gene

HapMap Linkage Disequilibrium report
CYP27B1
Human Gene Mutation Database (HGMD)
CYP27B1

Disorders for CYP27B1 Gene

(1) OMIM Diseases for CYP27B1 Gene (609506)

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.

(68) Novoseek inferred disease relationships for CYP27B1 Gene

Disease -log(P) Hits PubMed IDs
rickets 83.6 28
vitamin d-dependent rickets, type ii 77 3
vitamin d deficiency 71.4 7
hvdrr 68.3 1
rickets hypophosphatemic 58.4 2

Relevant External Links for CYP27B1

Genetic Association Database (GAD)
CYP27B1
Human Genome Epidemiology (HuGE) Navigator
CYP27B1
genes like me logo Genes that share disorders with CYP27B1: view

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
  2. Sequence variants in the human 25-hydroxyvitamin D3 1-alpha-hydroxylase (CYP27B1) gene are not associated with prostate cancer risk. (PMID: 12386916) Hawkins G.A. … Xu J. (Prostate 2002) 3 23 49
  3. A promoter polymorphism of the CYP27B1 gene is associated with Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus in Germans. (PMID: 15296474) Lopez E.R. … Badenhoop K. (Eur. J. Endocrinol. 2004) 3 23 49
  4. Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. (PMID: 9415400) Fu G.K. … Portale A.A. (Mol. Endocrinol. 1997) 3 4 23
  5. Complete structure of the human gene for the vitamin D 1alpha- hydroxylase, P450c1alpha. (PMID: 9428799) Fu G.K. … Miller W.L. (DNA Cell Biol. 1997) 3 4 23

Products for CYP27B1 Gene

Sources for CYP27B1 Gene

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