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FLASH GENE

Symbol

SQLE

contributors: mct - updated : 28-01-2020

HGNC name	squalene epoxidase
HGNC id	11279

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	8q24.13      Physical location : 126.010.719 - 126.034.523
Synonym name	squalene monoxygenase
Synonym symbol(s)	ERG1, SM, FLJ30795
EC.number	1.14.99.7

DNA

TYPE	functioning gene
STRUCTURE	23.80 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor   hormone
text structure	two sterol-regulatory elements (SREs) in close proximity in both the human HMGCR and SQLE promoters, as well as one NF-Y site in HMGCR and two in SQLE

MAPPING

cloned

Y

linked

N

status

provisional

Map	see MYC MYC

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003129 11 - 2989 NP_003120 - 574 - 2008 18728668

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system testis     highly   male system prostate     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	monooxygenase domain
	FAD binding domain

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome

basic FUNCTION	squalene epoxidase catalyzing the first oxygenation step in sterol biosynthesis
	microsomal enzyme that catalyzes the conversion of squalene to 2,3(s)-oxidosqualene, the immediate precursor to lanosterol in the cholesterol biosynthesis pathway
	role of SQLE as a novel diagnostic parameter for oestrogen receptor-positive (ER+) early stage breast cancers
	is an important control point in the pathway, and is regulated at the post-translational level by accelerated cholesterol-dependent ubiquitination and proteasomal degradation, which is associated with the accumulation of squalene
	is the second rate-limiting enzyme in cholesterol biosynthesis and is regulated both transcriptionally and post-translationally
	catalyzes the stereospecific conversion of squalene to 2,3(S)-oxidosqualene, a key step in cholesterol biosynthesis
	is a rate-limiting enzyme in cholesterol synthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

form a complex with squalene synthase

INTERACTION

DNA

RNA

small molecule	cofactor,
	FAD

protein	MARCHF6 controls abundance of both SQLE and HMGCR, establishing it as a major regulator of flux through the cholesterol synthesis pathway
	cholesterol accelerates the ubiquitination of SQLE by MARCH6, a key E3 ubiquitin ligase involved in ER-associated degradation

cell & other

REGULATION

activated by

OSBPL2 deficiency that upregulates SQLE expression and increases the accumulation of cholesterol and cholesteryl ester by suppressing AMPK signalling, which provides new evidence of the connection between OSBPL2 and cholesterol synthesis

induced by

SEC14L2 (stimulates squalene monooxygenase, a downstream enzyme in the cholesterol biosynthetic pathway) )

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   indicated poor prognosis in lung lung squamous cell carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS