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SQLE squalene epoxidase [ Homo sapiens (human) ]

Gene ID: 6713, updated on 5-Aug-2018

Summary

Official Symbol
SQLEprovided by HGNC
Official Full Name
squalene epoxidaseprovided by HGNC
Primary source
HGNC:HGNC:11279
See related
Ensembl:ENSG00000104549 MIM:602019; Vega:OTTHUMG00000164990
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 Jun 15 11:32:44 2016

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
flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
 
squalene monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
squalene monooxygenase activity NAS
Non-traceable Author Statement
more info
PubMed 
squalene monooxygenase activity TAS
Traceable Author Statement
more info
 
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 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 IEA
Inferred from Electronic Annotation
more info
 
organelle membrane IEA
Inferred from Electronic Annotation
more info
 

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_003129.3NP_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, OTTHUMP00000228146, ENST00000265896.9, OTTHUMT00000381362
    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 details...Open this link in a new tab

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, OTTHUMP00000228145, ENST00000523430.5, OTTHUMT00000381361
    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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