CYP27A1 (cytochrome P450 family 27 subfamily A member 1)

2009-05-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
ALIAS
CP27,CTX,CYP27
FUSION GENES

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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166160055cholic acidChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
381838742024Global spread characteristics of CTX-M-type extended-spectrum β-lactamases: A genomic epidemiology analysis.1
383367412024Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.0
387048632024Methyl-CpG-binding protein 2 regulates CYP27A1-induced myometrial contraction during preterm labor.0
381838742024Global spread characteristics of CTX-M-type extended-spectrum β-lactamases: A genomic epidemiology analysis.1
383367412024Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.0
387048632024Methyl-CpG-binding protein 2 regulates CYP27A1-induced myometrial contraction during preterm labor.0
368112812023The Interaction Effect of 27-Hydroxycholesterol Metabolism Disorder and CYP27A1 Single Nucleotide Polymorphisms in Mild Cognitive Impairment: Evidence from a Case-Control Study.2
368724112023TUBB2B facilitates progression of hepatocellular carcinoma by regulating cholesterol metabolism through targeting HNF4A/CYP27A1.1
37981011202327-Hydroxylation of oncosterone by CYP27A1 switches its activity from pro-tumor to anti-tumor.0
368112812023The Interaction Effect of 27-Hydroxycholesterol Metabolism Disorder and CYP27A1 Single Nucleotide Polymorphisms in Mild Cognitive Impairment: Evidence from a Case-Control Study.2
368724112023TUBB2B facilitates progression of hepatocellular carcinoma by regulating cholesterol metabolism through targeting HNF4A/CYP27A1.1
37981011202327-Hydroxylation of oncosterone by CYP27A1 switches its activity from pro-tumor to anti-tumor.0
349300752022Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy.0
358107732022CYP27A1 inhibits proliferation and migration of clear cell renal cell carcinoma via activation of LXRs/ABCA1.6
359691492022The tumor-repressing effect of CYP27A1 on renal cell carcinoma by 27-HC arising from cholesterol metabolism.2

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