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GENE AND PROTEIN SUMMARY

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Gene name

CYP27B1

Description

cytochrome P450, family 27, subfamily B, polypeptide 1

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

Medium

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

2 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Low

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-

A-549 Lung Low

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-

CACO-2 Colon Low

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-

HEK 293 Embryonal kidney Low

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-

HeLa Cervix Low

-

-

Hep-G2 Liver Low

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-

MCF-7 Pleural effusion Low

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-

PC-3 Bone marrow Low

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-

RT-4 Urinary bladder Low

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-

U-2 OS Bone Low

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-

U-251 MG Brain Low

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-

ANTIBODY SUMMARY

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Pending antibodies