CYP27A1

GENERAL INFORMATION

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Gene name

CYP27A1

Gene description

Cytochrome P450, family 27, subfamily A, polypeptide 1

Protein class

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

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues displayed weak to moderate cytoplasmic positivity. Additional nuclear or membranous staining was observed in few tissues. The small intestine, adrenal gland, renal tubules, respiratory epithelia and seminal vesicle were strongly stained. Bile ducts, decidual cells, glial cells and adipocytes were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA059155
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

CYP27A1 (HGNC Symbol)

Synonyms

CP27, CTX, CYP27

Description

Cytochrome P450, family 27, subfamily A, 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. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

Chromosome

2

Cytoband

q35

Chromosome location (bp)

218781749 - 218815293

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000135929 (version 78.38)

Entrez gene

1593

UniProt

Q02318 (UniProt - Evidence at protein level)

neXtProt

NX_Q02318

Antibodypedia

CYP27A1 antibodies


PROTEIN BROWSER

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ENST00000258415
 
ENST00000411688
 
 
 
 


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)

CYP27A1-001 ENSP00000258415
ENST00000258415
Q02318
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Show » Show » 531 60.2 No 0
CYP27A1-005 ENSP00000392671
ENST00000411688
C9J1K5
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Show » Show » 221 25.8 No 0