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

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; AllianceGenome:HGNC:2606
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: mouse all
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Genomic context

Location:: 12q14.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (57762334..57767078, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (57730683..57735427, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (58156117..58160861, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of CYP27B1 gene polymorphisms with pulmonary tuberculosis and vitamin D levels.
Title: Association of CYP27B1 gene polymorphisms with pulmonary tuberculosis and vitamin D levels.
Local production of active vitamin D3 metabolites in breast cancer cells by CYP24A1 and CYP27B1.
Title: Local production of active vitamin D(3) metabolites in breast cancer cells by CYP24A1 and CYP27B1.
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Title: Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.
Title: Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.
The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus erythematosus.
Title: The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus erythematosus.
Responsible enzymes for metabolizing vitamin D in patients with acute leukemia and the relationship with treatment outcomes: a case-control study.
Title: Responsible enzymes for metabolizing vitamin D in patients with acute leukemia and the relationship with treatment outcomes: a case-control study.
Astrocytes expressing Vitamin D-activating enzyme identify Parkinson's disease.
Title: Astrocytes expressing Vitamin D-activating enzyme identify Parkinson's disease.
Polymorphisms CYP2R1 rs10766197 and CYP27B1 rs10877012 in Multiple Sclerosis: A Case-Control Study.
Title: Polymorphisms CYP2R1 rs10766197 and CYP27B1 rs10877012 in Multiple Sclerosis: A Case-Control Study.
Chemical Synthesis of Side-Chain-Hydroxylated Vitamin D3 Derivatives and Their Metabolism by CYP27B1.
Title: Chemical Synthesis of Side-Chain-Hydroxylated Vitamin D(3) Derivatives and Their Metabolism by CYP27B1.
Vitamin D status and CYP27B1-1260 promoter polymorphism in Tunisian patients with systemic lupus erythematosus.
Title: Vitamin D status and CYP27B1-1260 promoter polymorphism in Tunisian patients with systemic lupus erythematosus.

Submit: New GeneRIF Correction See all GeneRIFs (175)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Vitamin D-dependent rickets, type 1A MedGen: CN283242 OMIM: 264700 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A007H24 (e-PCR)
- UniSTS:16941

RH48116 (e-PCR)
- UniSTS:41432

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcidiol 1-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcidiol 1-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables calcidiol 1-monooxygenase activity	TAS Traceable Author Statement more info
enables heme binding	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables secalciferol 1-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in G1 to G0 transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone mineralization	IEP Inferred from Expression Pattern more info	PubMed
involved_in calcitriol biosynthetic process from calciol	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcitriol biosynthetic process from calciol	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in decidualization	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of calcidiol 1-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vitamin D 24-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of vitamin D receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to estrogen	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in response to type II interferon	IDA Inferred from Direct Assay more info	PubMed
involved_in response to vitamin D	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to vitamin D	IDA Inferred from Direct Assay more info	PubMed
involved_in vitamin D catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin D metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in vitamin D metabolic process	TAS Traceable Author Statement more info
involved_in vitamin metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	TAS Traceable Author Statement more info	PubMed

General protein information

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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

EC 1.14.15.18

NCBI Reference Sequences (RefSeq)

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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.