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CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 [ Homo sapiens (human) ]

Gene ID: 1594, updated on 19-Jun-2014
Official Symbol
CYP27B1provided by HGNC
Official Full Name
cytochrome P450, family 27, subfamily B, polypeptide 1provided by HGNC
Primary source
HGNC:2606
See related
Ensembl:ENSG00000111012; HPRD:02031; MIM:609506; Vega:OTTHUMG00000170457
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VDR; CP2B; CYP1; PDDR; VDD1; VDDR; VDDRI; CYP27B; P450c1; CYP1alpha
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]
See CYP27B1 in Epigenomics, MapViewer
Location:
12q14.1
Exon count :
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (57762334..57767193, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58156117..58160976, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene microRNA 6759 Neighboring gene cyclin-dependent kinase 4 Neighboring gene membrane-associated ring finger (C3HC4) 9 Neighboring gene methyltransferase like 1 Neighboring gene methyltransferase like 21B

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Vitamin D-dependent rickets, type 1
MedGen: C0268689 OMIM: 264700 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
matrix gag HIV-1 Matrix activates fructose 1,6-bisphosphatase gene expression by induction of 1alpha-hydroxylase activity PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcidiol 1-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
heme binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G1 to G0 transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
bone mineralization IEP
Inferred from Expression Pattern
more info
PubMed 
calcitriol biosynthetic process from calciol IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
decidualization IEP
Inferred from Expression Pattern
more info
PubMed 
negative regulation of calcidiol 1-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of keratinocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of vitamin D 24-hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of vitamin D receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to estrogen IEP
Inferred from Expression Pattern
more info
PubMed 
response to interferon-gamma IDA
Inferred from Direct Assay
more info
PubMed 
response to lipopolysaccharide IDA
Inferred from Direct Assay
more info
PubMed 
response to vitamin D IDA
Inferred from Direct Assay
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
steroid metabolic process TAS
Traceable Author Statement
more info
 
vitamin D catabolic process IEA
Inferred from Electronic Annotation
more info
 
vitamin D metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
vitamin D metabolic process TAS
Traceable Author Statement
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
Names
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
1alpha(OH)ase
VD3 1A hydroxylase
cytochrome p450 27B1
cytochrome P450C1 alpha
cytochrome P450VD1-alpha
calcidiol 1-monooxygenase
25-OHD-1 alpha-hydroxylase
25 hydroxyvitamin D3-1-alpha hydroxylase
cytochrome P450 subfamily XXVIIB polypeptide 1
NP_000776.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007076.1 

    Range
    5001..9860
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000785.3NP_000776.1  25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

    See proteins identical to NP_000776.1

    Status: REVIEWED

    Source sequence(s)
    AB005038, AW449645, BP296031
    Consensus CDS
    CCDS8954.1
    UniProtKB/Swiss-Prot
    O15528
    Related
    ENSP00000228606, OTTHUMP00000243864, ENST00000228606, OTTHUMT00000409248
    Conserved Domains (1) summary
    pfam00067
    Location:41505
    Blast Score: 737
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    57762334..57767193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    55192956..55197815
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    58123921..58128780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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