CYP27A1 (cytochrome P450 family 27 subfamily A member 1)

2009-05-01  

Identity

HGNC
CYP27A1
LOCATION
2q35
LOCUSID
1593
ALIAS
CP27,CTX,CYP27
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1593
MIM: 606530
HGNC: 2605
Ensembl: ENSG00000135929

Variants:

dbSNP: 1593
ClinVar: 1593
TCGA: ENSG00000135929
COSMIC: CYP27A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135929ENST00000258415Q02318
ENSG00000135929ENST00000411688C9J1K5
ENSG00000135929ENST00000445971F8WD90

Expression (GTEx)

0
50
100
150
200
250
300
350
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Primary bile acid biosynthesisKEGGko00120
PPAR signaling pathwayKEGGko03320
Primary bile acid biosynthesisKEGGhsa00120
PPAR signaling pathwayKEGGhsa03320
Metabolic pathwaysKEGGhsa01100
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholateKEGGhsa_M00104
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholateKEGGM00104
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Bile acid and bile salt metabolismREACTOMER-HSA-194068
Synthesis of bile acids and bile saltsREACTOMER-HSA-192105
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolREACTOMER-HSA-193368
Synthesis of bile acids and bile salts via 24-hydroxycholesterolREACTOMER-HSA-193775
Synthesis of bile acids and bile salts via 27-hydroxycholesterolREACTOMER-HSA-193807
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Endogenous sterolsREACTOMER-HSA-211976

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166160055cholic acidChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
192550642009Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.70
192550642009Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.70
208092792010Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects.45
198528512009Asthma and genes encoding components of the vitamin D pathway.44
170882622007PXR induces CYP27A1 and regulates cholesterol metabolism in the intestine.38
208555652010Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.27
153400762004Transcriptional regulation of human CYP27 integrates retinoid, peroxisome proliferator-activated receptor, and liver X receptor signaling in macrophages.25
210499852011Quantification of cholesterol-metabolizing P450s CYP27A1 and CYP46A1 in neural tissues reveals a lack of enzyme-product correlations in human retina but not human brain.24
242802132014De novo synthesis of steroids and oxysterols in adipocytes.24

Citation

Dessen P

CYP27A1 (cytochrome P450 family 27 subfamily A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50913/cyp27a1