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    SQLE squalene epoxidase [ Homo sapiens (human) ]

    Gene ID: 6713, updated on 12-May-2019

    Summary

    Official Symbol
    SQLEprovided by HGNC
    Official Full Name
    squalene epoxidaseprovided by HGNC
    Primary source
    HGNC:HGNC:11279
    See related
    Ensembl:ENSG00000104549 MIM:602019
    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
    Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 28.6), esophagus (RPKM 19.3) and 22 other tissues See more
    Orthologs

    Genomic context

    See SQLE in Genome Data Viewer
    Location:
    8q24.13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (124998478..125022283)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (126010720..126034525)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375744 Neighboring gene zinc finger protein 572 Neighboring gene WASH complex subunit 5 Neighboring gene NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase Neighboring gene HNF1 motif-containing MPRA enhancer 31

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ30795

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    FAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    squalene monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    squalene monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    squalene monooxygenase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular aromatic compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    cholesterol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    sterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sterol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sterol biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_003129.4NP_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
      UniProtKB/TrEMBL
      Q5HYI4, Q9UNR6
      Related
      ENSP00000265896.5, ENST00000265896.10
      Conserved Domains (2) summary
      cl21454
      Location:277548
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
      cl27552
      Location:122427
      FAD_binding_3; FAD binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      124998478..125022283
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517246.2XP_011515548.1  squalene monooxygenase isoform X1

      Related
      ENSP00000430331.1, ENST00000523430.5
      Conserved Domains (3) summary
      COG0654
      Location:67441
      UbiH; 2-polyprenyl-6-methoxyphenol hydroxylase and related FAD-dependent oxidoreductases [Coenzyme transport and metabolism, Energy production and conversion]
      pfam08491
      Location:219490
      SE; Squalene epoxidase
      cl21454
      Location:68117
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
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