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FLASH GENE
Symbol SQLE contributors: mct - updated : 28-01-2020
HGNC name squalene epoxidase
HGNC id 11279
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
    Physical map
    LOC389683 8 LOC389683 LOC392265 8 similar to Cell division protein kinase 5 (Tau protein kinase II catalytic subunit) (TPKII catalytic subunit) (Serine/threonine protein kinase PSSALRE) LOC389684 8 LOC389684 ZHX2 8q24.13 zinc fingers and homeoboxes 2 MGC3067 8q24.13 hypothetical protein MGC3067 MGC21654 8q24.13 unknown MGC21654 product MGC14128 8q24.13 hypothetical protein MGC14128 FLJ14825 8q24.13 hypothetical protein FLJ14825 ZHX1 8q zinc-fingers and homeoboxes 1 LOC392266 8 similar to Peroxisomal multifunctional enzyme type 2 (MFE-2) (D-bifunctional protein) (DBP) (17-beta-hydroxysteroid dehydrogenase 4) (17-beta-HSD 4) PRO2000 8p22 similar to Peroxisomal multifunctional enzyme type 2 (MFE-2) (D-bifunctional protein) (DBP) (17-beta-hydroxysteroid dehydrogenase 4) (17-beta-HSD 4) LOC392267 8 similar to inosine monophosphate dehydrogenase 1 isoform b; sWSS2608 FLJ10204 8q24.13 hypothetical protein FLJ10204 FBXO32 8q24.13 F-box only protein 32 LOC340359 8q24.13 similar to hypothetical protein 8230402K04 ANXA13 8q24.13-q24.2 annexin A13 FLJ23790 8q24.13 hypothetical protein FLJ23790 FLJ35721 8q24.13 hypothetical protein FLJ35721 FLJ32770 8q24.13 hypothetical protein FLJ32770 LOC392268 8 similar to neuropilin- and tolloid-like protein 2 precursor LOC157378 8q24.13 hypothetical protein BC017881 LOC392269 8 similar to Transcription factor SOX-2 FLJ20772 8q24.13 hypothetical protein FLJ20772 RNF139 8q24.1 ring finger 139 CDA11 8q24.13 CDA11 protein NDUFB9 8q24.21 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa MTSS1 8q22.3-q24.13 metastasis suppressor 1 LOC392270 8 similar to MRS2-like, magnesium homeostasis factor FLJ38002 8q24.13 hypothetical protein FLJ38002 SQLE 8q24.1 squalene epoxidase KIAA0196 8q24.1-q24.3 Homo sapiens KIAA0196 gene product (KIAA0196), mRNA. FLJ32440 8q24.13 hypothetical protein FLJ32440 C8FW 8q24.13 phosphoprotein regulated by mitogenic pathways LOC389685 8 LOC389685 NSE2 8q24.13 breast cancer membrane protein 101
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2989 - 574 - 2008 18728668
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  highly
     male systemprostate  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone 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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    indicated poor prognosis in lung lung squamous cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS