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

Gene ID: 1594, updated on 12-Oct-2019

Summary

Official Symbol
CYP27B1provided by HGNC
Official Full Name
cytochrome P450 family 27 subfamily B member 1provided by HGNC
Primary source
HGNC:HGNC:2606
See related
Ensembl:ENSG00000111012 MIM:609506
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]
Expression
Biased expression in kidney (RPKM 9.5), thyroid (RPKM 4.8) and 4 other tissues See more
Orthologs

Genomic context

See CYP27B1 in Genome Data Viewer
Location:
12q14.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57762334..57767078, 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 tetraspanin 31 Neighboring gene microRNA 6759 Neighboring gene cyclin dependent kinase 4 Neighboring gene membrane associated ring-CH-type finger 9 Neighboring gene methyltransferase like 1 Neighboring gene EEF1A lysine methyltransferase 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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 Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcidiol 1-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
calcidiol 1-monooxygenase activity TAS
Traceable Author Statement
more info
 
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 
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
 
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 

General protein information

Preferred Names
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
Names
1alpha(OH)ase
25 hydroxyvitamin D3-1-alpha hydroxylase
25-OHD-1 alpha-hydroxylase
VD3 1A hydroxylase
calcidiol 1-monooxygenase
cytochrome P450 subfamily XXVIIB polypeptide 1
cytochrome P450, family 27, subfamily B, polypeptide 1
cytochrome P450C1 alpha
cytochrome P450VD1-alpha
cytochrome p450 27B1
NP_000776.1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    Range
    5116..9860
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000785.4NP_000776.1  25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

    See identical proteins and their annotated locations for NP_000776.1

    Status: REVIEWED

    Source sequence(s)
    AB005038, AW449645
    Consensus CDS
    CCDS8954.1
    UniProtKB/Swiss-Prot
    O15528
    Related
    ENSP00000228606.4, ENST00000228606.9
    Conserved Domains (1) summary
    pfam00067
    Location:41505
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    57762334..57767078 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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