SQLE (squalene epoxidase)

2007-07-01 Affiliation

Identity

HGNC

SQLE

LOCATION

8q24.13

LOCUSID

6713

ALIAS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6713
MIM: 602019
HGNC: 11279
Ensembl: ENSG00000104549

Variants:

dbSNP: 6713
ClinVar: 6713
TCGA: ENSG00000104549
COSMIC: SQLE

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000104549	ENST00000265896	Q14534
ENSG00000104549	ENST00000518931	H0YBN7
ENSG00000104549	ENST00000521232	E5RJH9
ENSG00000104549	ENST00000523430	E7EVQ6

Expression (GTEx)

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

Pathway	Source	External ID
Steroid biosynthesis	KEGG	ko00100
Steroid biosynthesis	KEGG	hsa00100
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Cholesterol biosynthesis	REACTOME	R-HSA-191273
Regulation of cholesterol biosynthesis by SREBP (SREBF)	REACTOME	R-HSA-1655829
Activation of gene expression by SREBF (SREBP)	REACTOME	R-HSA-2426168

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
24449766	2014	The E3 ubiquitin ligase MARCH6 degrades squalene monooxygenase and affects 3-hydroxy-3-methyl-glutaryl coenzyme A reductase and the cholesterol synthesis pathway.	41
17316888	2007	Identification of genes differentially expressed in human primary lung squamous cell carcinoma.	29
18660489	2008	Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.	26
26777065	2016	Squalene epoxidase is a bona fide oncogene by amplification with clinical relevance in breast cancer.	20
18728668	2008	Squalene epoxidase, located on chromosome 8q24.1, is upregulated in 8q+ breast cancer and indicates poor clinical outcome in stage I and II disease.	18
28972164	2017	A conserved degron containing an amphipathic helix regulates the cholesterol-mediated turnover of human squalene monooxygenase, a rate-limiting enzyme in cholesterol synthesis.	14
26434806	2015	The Regulatory Domain of Squalene Monooxygenase Contains a Re-entrant Loop and Senses Cholesterol via a Conformational Change.	12
28342963	2017	New insights into cellular cholesterol acquisition: promoter analysis of human HMGCR and SQLE, two key control enzymes in cholesterol synthesis.	12
28595267	2017	Cholesterol uptake and regulation in high-grade and lethal prostate cancers.	12

Citation

Dessen P

SQLE (squalene epoxidase)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47598/sqle