Cell atlas - CYP27B1 - The Human Protein Atlas

We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.

CYP27B1

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

Please wait until image is loaded before changing channels

GENERAL INFORMATION
Gene name	CYP27B1
Gene description	Cytochrome P450, family 27, subfamily B, polypeptide 1
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	3
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Cell line enriched (RH-30)
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enriched (RH-30) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	CYP27B1 (HGNC Symbol)
Synonyms	CYP1, P450c1, PDDR, VDD1
Description	Cytochrome P450, family 27, subfamily B, polypeptide 1 (HGNC Symbol)
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]
Chromosome	12
Cytoband	q14.1
Chromosome location (bp)	57762334 - 57768986
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000111012 (version 83.38)
Entrez gene	1594
UniProt	O15528 (UniProt - Evidence at protein level)
neXtProt	NX_O15528
Antibodypedia	CYP27B1 antibodies

PROTEIN BROWSER

CYP27B1-001	CYP27B1-004	CYP27B1-013

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CYP27B1-001 ENSP00000228606 ENST00000228606	O15528 [Direct mapping] 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial Show all	Enzymes ENZYME proteins Oxidoreductases MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Show all	GO:0004498 [calcidiol 1-monooxygenase activity] GO:0005506 [iron ion binding] GO:0005737 [cytoplasm] GO:0005739 [mitochondrion] GO:0005741 [mitochondrial outer membrane] 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:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0020037 [heme binding] 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] Show all	508 aa 56.5 kDa	No	0
CYP27B1-004 ENSP00000449472 ENST00000546567	F8VWR7 [Direct mapping] 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial Show all	MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Show all	GO:0004497 [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] GO:0055114 [oxidation-reduction process] Show all	157 aa 17.5 kDa	No	0
CYP27B1-013 ENSP00000476959 ENST00000546609	V9GYP0 [Direct mapping] 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial Show all	THUMBUP predicted membrane proteins Predicted intracellular proteins Show all	GO:0005506 [iron ion binding] GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0020037 [heme binding] GO:0055114 [oxidation-reduction process] Show all	234 aa 26 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.