CYP51A1 (cytochrome P450 family 51 subfamily A member 1)

2014-11-01  

Identity

HGNC
CYP51A1
LOCATION
7q21.2
LOCUSID
1595
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
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
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
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

References

Pubmed IDYearTitleCitations
382722042024The effect of membrane composition on the interaction between human CYP51 and its flavonoid inhibitor - luteolin 7,3'-disulfate.1
382722042024The effect of membrane composition on the interaction between human CYP51 and its flavonoid inhibitor - luteolin 7,3'-disulfate.1
364132742023CYP51-mediated cholesterol biosynthesis is required for the proliferation of CD4(+) T cells in Sjogren's syndrome.3
368701632023Revealing substrate-induced structural changes in active site of human CYP51 in the presence of its physiological substrates.0
372098232023Processive kinetics in the three-step lanosterol 14α-demethylation reaction catalyzed by human cytochrome P450 51A1.4
364132742023CYP51-mediated cholesterol biosynthesis is required for the proliferation of CD4(+) T cells in Sjogren's syndrome.3
368701632023Revealing substrate-induced structural changes in active site of human CYP51 in the presence of its physiological substrates.0
372098232023Processive kinetics in the three-step lanosterol 14α-demethylation reaction catalyzed by human cytochrome P450 51A1.4
330315372021Concerning P450 Evolution: Structural Analyses Support Bacterial Origin of Sterol 14α-Demethylases.15
330315372021Concerning P450 Evolution: Structural Analyses Support Bacterial Origin of Sterol 14α-Demethylases.15
319048142020The cholesterol synthesis enzyme lanosterol 14α-demethylase is post-translationally regulated by the E3 ubiquitin ligase MARCH6.11
324937302020A requirement for an active proton delivery network supports a compound I-mediated C-C bond cleavage in CYP51 catalysis.14
319048142020The cholesterol synthesis enzyme lanosterol 14α-demethylase is post-translationally regulated by the E3 ubiquitin ligase MARCH6.11
324937302020A requirement for an active proton delivery network supports a compound I-mediated C-C bond cleavage in CYP51 catalysis.14
298072442018Interaction of 17α-hydroxylase, 17(20)-lyase (CYP17A1) inhibitors - abiraterone and galeterone - with human sterol 14α-demethylase (CYP51A1).3

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/img/gene-explorer/js/lib/all.min.js