Version 5.4
Homo sapiens Gene: CYP27B1
Summary
InnateDB Gene IDBG-43755.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CYP27B1
Gene Name cytochrome P450, family 27, subfamily B, polypeptide 1
Synonyms CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Species Homo sapiens
Ensembl Gene ENSG00000111012
Encoded Proteins
IDBP-43757
cytochrome P450, family 27, subfamily B, polypeptide 1
IDBP-599786
cytochrome P450, family 27, subfamily B, polypeptide 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:57762334-57768986
Strand Reverse strand
Band q14.1
Transcripts
ENST00000228606 ENSP00000228606
ENST00000547344
ENST00000546567 ENSP00000449472
ENST00000547451
ENST00000552186
ENST00000546496
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 0
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004498 calcidiol 1-monooxygenase activity
GO:0005506 iron ion binding
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037 heme binding
Biological Process
GO:0006766 vitamin metabolic process
GO:0006805 xenobiotic metabolic process
GO:0006816 calcium ion transport
GO:0008202 steroid metabolic process
GO:0008285 negative regulation of cell proliferation
GO:0010956 negative regulation of calcidiol 1-monooxygenase activity
GO:0010980 positive regulation of vitamin D 24-hydroxylase activity
GO:0030282 bone mineralization
GO:0030308 negative regulation of cell growth
GO:0030500 regulation of bone mineralization
GO:0032496 response to lipopolysaccharide
GO:0033280 response to vitamin D
GO:0034341 response to interferon-gamma
GO:0036378 calcitriol biosynthetic process from calciol
GO:0042359 vitamin D metabolic process
GO:0042369 vitamin D catabolic process
GO:0043627 response to estrogen
GO:0044281 small molecule metabolic process
GO:0045618 positive regulation of keratinocyte differentiation
GO:0046697 decidualization
GO:0055074 calcium ion homeostasis
GO:0055114 oxidation-reduction process
GO:0070314 G1 to G0 transition
GO:0070564 positive regulation of vitamin D receptor signaling pathway
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000006724
View Gene Order
ENSBTAG00000016906
Not yet available
Pathways
NETPATH
REACTOME
REACT_13523
Vitamin D (calciferol) metabolism pathway
REACT_13450
Vitamins pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_11057
Metabolism of steroid hormones and vitamin D pathway
REACT_13567
Cytochrome P450 - arranged by substrate type pathway
REACT_111217
Metabolism pathway
REACT_13433
Biological oxidations pathway
REACT_13705
Phase 1 - Functionalization of compounds pathway
KEGG
hsa00100
Steroid biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.524528
RefSeq NM_000785
HUGO
OMIM
CCDS CCDS8954
HPRD 02031
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca