CYP51A1 (cytochrome P450 family 51 subfamily A member 1)

2014-11-01  

Identity

HGNC
LOCATION
7q21.2
LOCUSID
ALIAS
CP51,CYP51,CYPL1,LDM,P450-14DM,P450L1

Other Information

Locus ID:

NCBI: 1595
MIM: 601637
HGNC: 2649
Ensembl: ENSG00000001630

Variants:

dbSNP: 1595
ClinVar: 1595
TCGA: ENSG00000001630
COSMIC: CYP51A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000001630ENST00000003100A0A0C4DFL7
ENSG00000001630ENST00000422867H7C0D0
ENSG00000001630ENST00000450723Q16850

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Steroid biosynthesisKEGGko00100
Steroid biosynthesisKEGGhsa00100
Metabolic pathwaysKEGGhsa01100
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGhsa_M00101
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGM00101
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Cholesterol biosynthesisREACTOMER-HSA-191273
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Activation of gene expression by SREBF (SREBP)REACTOMER-HSA-2426168
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

References

Pubmed IDYearTitleCitations
201497982010Structural basis of human CYP51 inhibition by antifungal azoles.71
186763672008Regulation of cholesterologenesis by the oxysterol receptor, LXRalpha.47
205472492011Structural basis for conservation in the CYP51 family.46
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
156110562005Structural diversities of active site in clinical azole-bound forms between sterol 14alpha-demethylases (CYP51s) from human and Mycobacterium tuberculosis.13
273130592016Human sterol 14α-demethylase as a target for anticancer chemotherapy: towards structure-aided drug design.13
121453392002A cAMP-responsive element binding site is essential for sterol regulation of the human lanosterol 14alpha-demethylase gene (CYP51).11
243582042013Polymorphisms of CYP51A1 from cholesterol synthesis: associations with birth weight and maternal lipid levels and impact on CYP51 protein structure.8
247112112015CYP51A1 induced by growth differentiation factor 9 and follicle-stimulating hormone in granulosa cells is a possible predictor for unfertilization.6
260027332015Acyl-Carbon Bond Cleaving Cytochrome P450 Enzymes: CYP17A1, CYP19A1 and CYP51A1.4

Citation

Dessen P

CYP51A1 (cytochrome P450 family 51 subfamily A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62270/cyp51a1-(cytochrome-p450-family-51-subfamily-a-member-1)