CYP27B1

GENERAL INFORMATION

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Gene name

CYP27B1

Gene description

Cytochrome P450, family 27, subfamily B, polypeptide 1

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (kidney, thyroid gland)
GTEx:Tissue enriched (kidney)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (kidney, thyroid gland)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

1594

UniProt

O15528 (UniProt - Evidence at protein level)

neXtProt

NX_O15528

Antibodypedia

CYP27B1 antibodies


PROTEIN BROWSER

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ENST00000228606
 
ENST00000546567
 
ENST00000546609
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CYP27B1-001 ENSP00000228606
ENST00000228606
O15528
Show all »
Show » Show » 508 56.5 No 0
CYP27B1-004 ENSP00000449472
ENST00000546567
F8VWR7
Show all »
Show » Show » 157 17.5 No 0
CYP27B1-013 ENSP00000476959
ENST00000546609
Show » Show » 234 26 No 0