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CYP27B1

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
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Mixed
HPA (cell line):Cell line enriched (RH-30)
HPA (normal tissue):Tissue enhanced (kidney, thyroid gland)

Protein evidence

 Evidence at protein level

ANTIBODY IHC RELIABILITY

Reliability score

 Pending cancer tissue analysis.

PROGNOSTIC SUMMARY
Prognostic marker in thyroid cancer (unfavourable).
Thyroid cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Mixed

PROTEIN EXPRESSION

Pending cancer tissue analysis

STAINING SUMMARY

 

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
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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]
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 508 aa
56.5 kDa 		No 0
CYP27B1-004
ENSP00000449472
ENST00000546567
F8VWR7 [Direct mapping]
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
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   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]
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 157 aa
17.5 kDa 		No 0
CYP27B1-013
ENSP00000476959
ENST00000546609
V9GYP0 [Direct mapping]
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
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   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]
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 234 aa
26 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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