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Aliases for SQLE Gene

Aliases for SQLE Gene

  • Squalene Epoxidase 2 3 4 5
  • Squalene Monooxygenase 2 3
  • SE 3 4
  • EC 1.14.14.17 4
  • ERG1 4

External Ids for SQLE Gene

Previous GeneCards Identifiers for SQLE Gene

  • GC08P125035
  • GC08P126015
  • GC08P125679
  • GC08P125968
  • GC08P126079
  • GC08P121334
  • GC08P126010

Summaries for SQLE Gene

Entrez Gene Summary for SQLE Gene

  • 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]

GeneCards Summary for SQLE Gene

SQLE (Squalene Epoxidase) is a Protein Coding gene. Diseases associated with SQLE include Tinea Cruris and Tinea Pedis. Among its related pathways are Bisphosphonate Pathway, Pharmacodynamics and Statin Pathway. GO annotations related to this gene include oxidoreductase activity and squalene monooxygenase activity.

UniProtKB/Swiss-Prot for SQLE Gene

  • Catalyzes the first oxygenation step in sterol biosynthesis and is suggested to be one of the rate-limiting enzymes in this pathway.

Gene Wiki entry for SQLE Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SQLE Gene

Genomics for SQLE Gene

Regulatory Elements for SQLE Gene

Enhancers for SQLE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G124626 2 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -369.3 -369294 6.1 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS MTSS1 SQLE LOC105375744 NSMCE2 TRMT12 RNF139 WASHC5 ZNF572 GC08P124592 GC08P124718
GH08G124592 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -403.6 -403567 4.3 HDGF PKNOX1 ARID4B ZNF48 ZBTB7B ZNF207 ZNF143 FOS DEK SP5 MTSS1 ZNF572 TATDN1 NDUFB9 LOC105375744 SQLE TRMT12 NSMCE2 RNF139 WASHC5
GH08G124846 1.5 Ensembl ENCODE dbSUPER 9.8 -150.4 -150385 3.1 PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 GATA2 FOS KLF13 CAVIN1 MTSS1 LOC105375744 SQLE ZNF572 MIR4662B
GH08G124814 1.4 Ensembl ENCODE dbSUPER 9.5 -183.2 -183201 2.1 HNRNPUL1 ARNT FOS KDM4B GTF2B MEF2D MBD2 MYNN GTF2E2 BACH1 MTSS1 ZNF572 SQLE LOC105375744 MIR4662A GC08P124786
GH08G124562 1.2 Ensembl ENCODE 9.9 -434.2 -434205 4.3 FOXA2 DMAP1 YY1 TCF12 GATA2 REST ZNF579 SMARCA4 ETV4 HNF4A TATDN1 NDUFB9 MTSS1 LOC105375744 SQLE TRMT12 LOC105375740
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SQLE on UCSC Golden Path with GeneCards custom track

Promoters for SQLE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000230231 1422 4201 PKNOX1 MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B ZNF143 ZNF207

Genomic Location for SQLE Gene

Chromosome:
8
Start:
124,998,478 bp from pter
End:
125,022,284 bp from pter
Size:
23,807 bases
Orientation:
Plus strand

Genomic View for SQLE Gene

Genes around SQLE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SQLE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SQLE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SQLE Gene

Proteins for SQLE Gene

  • Protein details for SQLE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14534-ERG1_HUMAN
    Recommended name:
    Squalene monooxygenase
    Protein Accession:
    Q14534
    Secondary Accessions:
    • Q9UEK6

    Protein attributes for SQLE Gene

    Size:
    574 amino acids
    Molecular mass:
    63923 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • May form a complex with squalene synthase.

neXtProt entry for SQLE Gene

Post-translational modifications for SQLE Gene

  • Ubiquitination at Lys90, Lys290, posLast=426426, and Lys436
  • Modification sites at PhosphoSitePlus

Other Protein References for SQLE Gene

No data available for DME Specific Peptides for SQLE Gene

Domains & Families for SQLE Gene

Protein Domains for SQLE Gene

Suggested Antigen Peptide Sequences for SQLE Gene

Graphical View of Domain Structure for InterPro Entry

Q14534

UniProtKB/Swiss-Prot:

ERG1_HUMAN :
  • Belongs to the squalene monooxygenase family.
Family:
  • Belongs to the squalene monooxygenase family.
genes like me logo Genes that share domains with SQLE: view

No data available for Gene Families for SQLE Gene

Function for SQLE Gene

Molecular function for SQLE Gene

GENATLAS Biochemistry:
squalene epoxidase catalyzing the first oxygenation step in sterol biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity:
Squalene + [reduced NADPH--hemoprotein reductase] + O(2) = (3S)-2,3-epoxy-2,3-dihydrosqualene + [oxidized NADPH--hemoprotein reductase] + H(2)O.
UniProtKB/Swiss-Prot Function:
Catalyzes the first oxygenation step in sterol biosynthesis and is suggested to be one of the rate-limiting enzymes in this pathway.

Enzyme Numbers (IUBMB) for SQLE Gene

Gene Ontology (GO) - Molecular Function for SQLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004506 squalene monooxygenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0050660 flavin adenine dinucleotide binding IEA --
GO:0071949 FAD binding IEA --
genes like me logo Genes that share ontologies with SQLE: view
genes like me logo Genes that share phenotypes with SQLE: view

Animal Models for SQLE Gene

MGI Knock Outs for SQLE:
  • Sqle tm1a(EUCOMM)Wtsi

Animal Model Products

miRNA for SQLE Gene

miRTarBase miRNAs that target SQLE

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SQLE

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SQLE Gene

Localization for SQLE Gene

Subcellular locations from UniProtKB/Swiss-Prot for SQLE Gene

Microsome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SQLE gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
cytoskeleton 2
cytosol 2
extracellular 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SQLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA,IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with SQLE: view

Pathways & Interactions for SQLE Gene

genes like me logo Genes that share pathways with SQLE: view

UniProtKB/Swiss-Prot Q14534-ERG1_HUMAN

  • Pathway: Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 2/3.

Gene Ontology (GO) - Biological Process for SQLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006695 cholesterol biosynthetic process TAS --
GO:0006725 cellular aromatic compound metabolic process IEA --
GO:0008203 cholesterol metabolic process IBA,IEA --
GO:0010033 response to organic substance IEA --
GO:0016126 sterol biosynthetic process NAS 9286711
genes like me logo Genes that share ontologies with SQLE: view

No data available for SIGNOR curated interactions for SQLE Gene

Drugs & Compounds for SQLE Gene

(25) Drugs for SQLE Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Butenafine Approved Pharma Target, inhibitor 3
Naftifine Approved Pharma Target, inhibitor 13
Terbinafine Approved, Investigational, Vet_approved Pharma Target, inhibitor 35
FAD Approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0

(15) Additional Compounds for SQLE Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
squalene
  • (all-E)-2,6,10,15,19,23-hexamethyl-2,6,10,14,18,22-Tetracosahexaene
  • (E,E,E,E)-Squalene
  • 2,6,10,15,19,23-Hexamethyl-2,6,10,14,18,22-tetracosahexaene
  • All-trans-Squalene
  • Nikko Squalane EX
111-02-4
(3S)-2,3-epoxy-2,3-dihydrosqualene
Ferrocytochrome
  • 553-12-8 (FREE ACID)
  • Ferrocytochrome b-561
  • H2ppIX
  • HEM
  • Kammerer'S porphyrin
1818-68-4
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton

(6) ApexBio Compounds for SQLE Gene

Compound Action Cas Number
Liranaftate 88678-31-3
NB-598 SE inhibitor 131060-14-5
NB-598 hydrochloride SE inhibitor 136719-25-0
NB-598 Maleate Squalene epoxidase inhibitor 155294-62-5
NB-598 Maleate salt SE inhibitor 136719-26-1
Terbinafine HCl 78628-80-5
genes like me logo Genes that share compounds with SQLE: view

Drug Products

Transcripts for SQLE Gene

Unigene Clusters for SQLE Gene

Squalene epoxidase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SQLE

Alternative Splicing Database (ASD) splice patterns (SP) for SQLE Gene

No ASD Table

Relevant External Links for SQLE Gene

GeneLoc Exon Structure for
SQLE
ECgene alternative splicing isoforms for
SQLE

Expression for SQLE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SQLE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SQLE Gene

This gene is overexpressed in Esophagus - Mucosa (x4.1).

Protein differential expression in normal tissues from HIPED for SQLE Gene

This gene is overexpressed in Fetal testis (35.4) and Fetal ovary (17.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SQLE Gene



NURSA nuclear receptor signaling pathways regulating expression of SQLE Gene:

SQLE

SOURCE GeneReport for Unigene cluster for SQLE Gene:

Hs.71465

Evidence on tissue expression from TISSUES for SQLE Gene

  • Liver(4.5)
  • Intestine(4.4)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with SQLE: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SQLE Gene

Orthologs for SQLE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SQLE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SQLE 34 35
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia SQLE 34 35
  • 89.04 (n)
dog
(Canis familiaris)
Mammalia SQLE 34 35
  • 88.42 (n)
rat
(Rattus norvegicus)
Mammalia Sqle 34
  • 83.01 (n)
mouse
(Mus musculus)
Mammalia Sqle 34 16 35
  • 82.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SQLE 35
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SQLE 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves SQLE 34 35
  • 73.71 (n)
lizard
(Anolis carolinensis)
Reptilia SQLE 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sqle 34
  • 67.21 (n)
zebrafish
(Danio rerio)
Actinopterygii sqlea 34 35
  • 65.17 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG1 34 35 37
  • 49.62 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15224g 34
  • 49.18 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL141C 34
  • 45.93 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons XF1 34
  • 50.72 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9714 34
rice
(Oryza sativa)
Liliopsida Os03g0231700 34
  • 51.91 (n)
Os.20969 34
wheat
(Triticum aestivum)
Liliopsida Ta.7591 34
corn
(Zea mays)
Liliopsida Zm.7407 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg1 34
  • 50.04 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08280 34
  • 47.52 (n)
Species where no ortholog for SQLE was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • worm (Caenorhabditis elegans)

Evolution for SQLE Gene

ENSEMBL:
Gene Tree for SQLE (if available)
TreeFam:
Gene Tree for SQLE (if available)

Paralogs for SQLE Gene

(2) SIMAP similar genes for SQLE Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SQLE: view

No data available for Paralogs for SQLE Gene

Variants for SQLE Gene

Sequence variations from dbSNP and Humsavar for SQLE Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000201348 -- 125,006,822(+) GCCTC(-/AGCCTCCCGAGT)AGCTG intron-variant
rs1000310240 -- 125,007,106(+) ATTTT(A/T)TTTTT intron-variant
rs1000355779 -- 125,013,489(+) CTGGG(A/T)TTATA intron-variant
rs1000958458 -- 124,996,917(+) ACCTC(C/T)TTAAT downstream-variant-500B, upstream-variant-2KB
rs1001209805 -- 125,015,981(+) GCTCC(A/G)TTGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SQLE Gene

Variant ID Type Subtype PubMed ID
esv3342637 CNV insertion 20981092
nsv1132169 CNV deletion 24896259

Variation tolerance for SQLE Gene

Residual Variation Intolerance Score: 48.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SQLE Gene

Human Gene Mutation Database (HGMD)
SQLE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SQLE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SQLE Gene

Disorders for SQLE Gene

MalaCards: The human disease database

(6) MalaCards diseases for SQLE Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tinea cruris
  • dermatophytosis of groin and perianal area
tinea pedis
  • athlete's foot
pityriasis versicolor
  • infection by pityrosporum furfur
tinea corporis
  • dermatophytosis of the body
candida glabrata
- elite association - COSMIC cancer census association via MalaCards
Search SQLE in MalaCards View complete list of genes associated with diseases

Relevant External Links for SQLE

Genetic Association Database (GAD)
SQLE
Human Genome Epidemiology (HuGE) Navigator
SQLE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SQLE
genes like me logo Genes that share disorders with SQLE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SQLE Gene

Publications for SQLE Gene

  1. Localization of the squalene epoxidase gene (SQLE) to human chromosome region 8q24.1. (PMID: 9286711) Nagai M. … Ono T. (Genomics 1997) 2 3 4 22 64
  2. Transcriptional regulation of squalene epoxidase by sterols and inhibitors in HeLa cells. (PMID: 8626488) Nakamura Y. … Ono T. (J. Biol. Chem. 1996) 3 4 22 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y. … Boer J.M. (J. Lipid Res. 2008) 3 46 64
  5. Squalene epoxidase, located on chromosome 8q24.1, is upregulated in 8q+ breast cancer and indicates poor clinical outcome in stage I and II disease. (PMID: 18728668) Helms M.W. … Brandt B.H. (Br. J. Cancer 2008) 3 22 64

Products for SQLE Gene

Sources for SQLE Gene

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