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    SQLE squalene epoxidase [ Homo sapiens (human) ]

    Gene ID: 6713, updated on 10-Dec-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 and membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 28.6), esophagus (RPKM 19.3) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SQLE in Genome Data Viewer
    Location:
    8q24.13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (124998505..125022283)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (126131528..126156104)
    RS_2024_09 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Age-related cholesterol and colorectal cancer progression: Validating squalene epoxidase for high-risk cases.
      Title: Age-related cholesterol and colorectal cancer progression: Validating squalene epoxidase for high-risk cases.
    2. Squalene epoxidase promotes breast cancer progression by regulating CCNB1 protein stability.
      Title: Squalene epoxidase promotes breast cancer progression by regulating CCNB1 protein stability.
    3. Squalene Epoxidase: Its Regulations and Links with Cancers.
      Title: Squalene Epoxidase: Its Regulations and Links with Cancers.
    4. Squalene monooxygenase facilitates bladder cancer development in part by regulating PCNA.
      Title: Squalene monooxygenase facilitates bladder cancer development in part by regulating PCNA.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    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)

    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 biphenyl 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_2024_08

    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

      UniProtKB/TrEMBL
      E7EVQ6
    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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