CYP27B1 (cytochrome P450 family 27 subfamily B member 1)

2007-02-01 Affiliation

Identity

HGNC

CYP27B1

LOCATION

12q14.1

LOCUSID

1594

ALIAS

CP2B,CYP1,CYP1alpha,CYP27B,P450c1,PDDR,VDD1,VDDR,VDDRI,VDR

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1594
MIM: 609506
HGNC: 2606
Ensembl: ENSG00000111012

Variants:

dbSNP: 1594
ClinVar: 1594
TCGA: ENSG00000111012
COSMIC: CYP27B1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000111012	ENST00000228606	O15528
ENSG00000111012	ENST00000546567	F8VWR7
ENSG00000111012	ENST00000546609	V9GYP0

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Steroid biosynthesis	KEGG	ko00100
Steroid biosynthesis	KEGG	hsa00100
Metabolic pathways	KEGG	hsa01100
Tuberculosis	KEGG	ko05152
Tuberculosis	KEGG	hsa05152
Cholecalciferol biosynthesis	KEGG	hsa_M00103
Cholecalciferol biosynthesis	KEGG	M00103
Metabolism	REACTOME	R-HSA-1430728
Vitamin D (calciferol) metabolism	REACTOME	R-HSA-196791
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Biological oxidations	REACTOME	R-HSA-211859
Phase 1 - Functionalization of compounds	REACTOME	R-HSA-211945
Cytochrome P450 - arranged by substrate type	REACTOME	R-HSA-211897
Vitamins	REACTOME	R-HSA-211916
Metabolism of fat-soluble vitamins	REACTOME	R-HSA-6806667

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA162263533	nephrotoxicity	Disease	ClinicalAnnotation	associated	PD	31619748
PA164760843	deferasirox	Chemical	ClinicalAnnotation	associated	PD	30651574
PA164784024	peginterferon alfa-2b	Chemical	ClinicalAnnotation	associated	PD	21145801
PA166201941	tenofovir disoproxil fumarate	Chemical	ClinicalAnnotation	associated	PD	31619748
PA446432	beta-Thalassemia	Disease	ClinicalAnnotation	associated	PD	30651574
PA446863	Hepatitis C, Chronic	Disease	ClinicalAnnotation	associated	PD	21145801
PA447230	HIV Infections	Disease	ClinicalAnnotation	associated	PD	31619748
PA451241	ribavirin	Chemical	ClinicalAnnotation	associated	PD	21145801

References

Pubmed ID	Year	Title	Citations
15589699	2005	Distribution of the vitamin D receptor and 1 alpha-hydroxylase in human brain.	299
17368179	2007	Extra-renal 25-hydroxyvitamin D3-1alpha-hydroxylase in human health and disease.	119
15795327	2005	25-hydroxyvitamin D3-1alpha-hydroxylase is expressed in human vascular smooth muscle cells and is upregulated by parathyroid hormone and estrogenic compounds.	91
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
22446158	2012	Extrarenal expression of the 25-hydroxyvitamin D-1-hydroxylase.	79
21441443	2011	Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes.	77
20619365	2011	Cytochromes P450 are essential players in the vitamin D signaling system.	73
21145801	2011	Vitamin D deficiency and a CYP27B1-1260 promoter polymorphism are associated with chronic hepatitis C and poor response to interferon-alfa based therapy.	73
19255064	2009	Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.	70
19255064	2009	Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.	70

Citation

Dessen P

CYP27B1 (cytochrome P450 family 27 subfamily B member 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46401/cyp27b1