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SQLE squalene epoxidase [ Homo sapiens (human) ]

Gene ID: 6713, updated on 3-Apr-2024

Summary

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Official Symbol
SQLEprovided by HGNC
Official Full Name
squalene epoxidaseprovided by HGNC
Primary source
HGNC:HGNC:11279
See related
Ensembl:ENSG00000104549 MIM:602019; AllianceGenome:HGNC:11279
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Enables FAD binding activity and squalene monooxygenase activity. Involved in lipid droplet formation; regulation of cell population proliferation; and sterol biosynthetic process. Located in intracellular membrane-bounded organelle. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 28.6), esophagus (RPKM 19.3) and 22 other tissues See more
Orthologs
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Genomic context

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Location:
8q24.13
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (124998505..125022283)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (126131528..126156104)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (126010747..126034525)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27898 Neighboring gene zinc finger protein 572 Neighboring gene SQLE divergent transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:126043836-126045035 Neighboring gene WASHC5 antisense RNA 1 Neighboring gene WASH complex subunit 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27899 Neighboring gene NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27903 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:126201101-126202300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27907 Neighboring gene HNF1 motif-containing MPRA enhancer 31 Neighboring gene RNA, 7SL, cytoplasmic 329, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Report of terbinafine resistant Trichophyton spp. in Italy: Clinical presentations, molecular identification, antifungal susceptibility testing and mutations in the squalene epoxidase gene. Bortoluzzi P, et al. Mycoses, 2023 Aug. PMID 37139949
  2. Squalene epoxidase promotes hepatocellular carcinoma development by activating STRAP transcription and TGF-β/SMAD signalling. Zhang Z, et al. Br J Pharmacol, 2023 Jun. PMID 36581319
  3. Downregulated ferroptosis-related gene SQLE facilitates temozolomide chemoresistance, and invasion and affects immune regulation in glioblastoma. Yao L, et al. CNS Neurosci Ther, 2022 Dec. PMID 35962621, Free PMC Article
  4. SQLE, A Key Enzyme in Cholesterol Metabolism, Correlates With Tumor Immune Infiltration and Immunotherapy Outcome of Pancreatic Adenocarcinoma. You W, et al. Front Immunol, 2022. PMID 35720314, Free PMC Article
  5. Ferroptosis regulators, especially SQLE, play an important role in prognosis, progression and immune environment of breast cancer. Tang W, et al. BMC Cancer, 2021 Oct 29. PMID 34715817, Free PMC Article

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Squalene monooxygenase facilitates bladder cancer development in part by regulating PCNA.
    Title: Squalene monooxygenase facilitates bladder cancer development in part by regulating PCNA.
  2. Identifying squalene epoxidase as a metabolic vulnerability in high-risk osteosarcoma using an artificial intelligence-derived prognostic index.
    Title: Identifying squalene epoxidase as a metabolic vulnerability in high-risk osteosarcoma using an artificial intelligence-derived prognostic index.
  3. Knockdown of SQLE promotes CD8+ T cell infiltration in the tumor microenvironment.
    Title: Knockdown of SQLE promotes CD8+ T cell infiltration in the tumor microenvironment.
  4. The expression of squalene epoxidase in human gastric cancer and its clinical significance.
    Title: The expression of squalene epoxidase in human gastric cancer and its clinical significance.
  5. Detection of Squalene Epoxidase Mutations in United States Patients with Onychomycosis: Implications for Management.
    Title: Detection of Squalene Epoxidase Mutations in United States Patients with Onychomycosis: Implications for Management.
  6. SQLE promotes pancreatic cancer growth by attenuating ER stress and activating lipid rafts-regulated Src/PI3K/Akt signaling pathway.
    Title: SQLE promotes pancreatic cancer growth by attenuating ER stress and activating lipid rafts-regulated Src/PI3K/Akt signaling pathway.
  7. Report of terbinafine resistant Trichophyton spp. in Italy: Clinical presentations, molecular identification, antifungal susceptibility testing and mutations in the squalene epoxidase gene.
    Title: Report of terbinafine resistant Trichophyton spp. in Italy: Clinical presentations, molecular identification, antifungal susceptibility testing and mutations in the squalene epoxidase gene.
  8. Squalene epoxidase promotes hepatocellular carcinoma development by activating STRAP transcription and TGF-beta/SMAD signalling.
    Title: Squalene epoxidase promotes hepatocellular carcinoma development by activating STRAP transcription and TGF-β/SMAD signalling.
  9. Squalene epoxidase facilitates cervical cancer progression by modulating tumor protein p53 signaling pathway.
    Title: Squalene epoxidase facilitates cervical cancer progression by modulating tumor protein p53 signaling pathway.
  10. Downregulated ferroptosis-related gene SQLE facilitates temozolomide chemoresistance, and invasion and affects immune regulation in glioblastoma.
    Title: Downregulated ferroptosis-related gene SQLE facilitates temozolomide chemoresistance, and invasion and affects immune regulation in glioblastoma.
Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ30795

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables FAD binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables squalene monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables squalene monooxygenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables squalene monooxygenase activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cholesterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipid droplet formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to organic substance IEA
Inferred from Electronic Annotation
more info
  
involved_in sterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sterol biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sterol biosynthetic process NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
squalene monooxygenase
Names
SE
NP_003120.2
XP_011515548.1
XP_054217045.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_003129.4 → NP_003120.2  squalene monooxygenase

    See identical proteins and their annotated locations for NP_003120.2

    Status: REVIEWED

    Source sequence(s)
    BC017033, BG772453, BX647400, BX647605
    Consensus CDS
    CCDS47918.1
    UniProtKB/Swiss-Prot
    Q14534, Q9UEK6, Q9UNR6
    UniProtKB/TrEMBL
    Q5HYI4
    Related
    ENSP00000265896.5, ENST00000265896.10
    Conserved Domains (2) summary
    cl21454
    Location:277 → 548
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    cl27552
    Location:122 → 427
    FAD_binding_3; FAD binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    124998505..125022283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517246.3 → XP_011515548.1  squalene monooxygenase isoform X1

    UniProtKB/TrEMBL
    E7EVQ6
    Related
    ENSP00000430331.1, ENST00000523430.5
    Conserved Domains (3) summary
    COG0654
    Location:67 → 441
    UbiH; 2-polyprenyl-6-methoxyphenol hydroxylase and related FAD-dependent oxidoreductases [Coenzyme transport and metabolism, Energy production and conversion]
    pfam08491
    Location:219 → 490
    SE; Squalene epoxidase
    cl21454
    Location:68 → 117
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    126131528..126156104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361070.1 → XP_054217045.1  squalene monooxygenase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14534.3 GenPept UniProtKB/Swiss-Prot:Q14534

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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