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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 Regulation of cholesterol biosynthesis by SREBP (SREBF) and cholesterol biosynthesis I. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for SQLE Gene

Promoters and enhancers for SQLE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I124996 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +1.0 983 5.3 PKNOX1 CLOCK ARID4B SIN3A FEZF1 DMAP1 ZBTB7B POLR2B ZNF207 ZNF143 LOC105375744 SQLE TRMT12 RNF139 LOC105375740 RNF139-AS1 LINC00964 TATDN1 GC08P125034
GH08I124626 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -369.3 -369293 6.1 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 FOS JUNB MTSS1 LOC105375744 SQLE NSMCE2 TRMT12 RNF139 WASHC5 ZNF572 GC08P124592 GC08P124718
GH08I124592 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -403.6 -403567 4.3 RB1 ARID4B BATF ZNF48 RAD21 RFX5 ARID2 ZNF143 ATF7 BCLAF1 MTSS1 ZNF572 NDUFB9 TATDN1 LOC105375744 SQLE TRMT12 NSMCE2 RNF139 WASHC5
GH08I124846 Enhancer 1.4 Ensembl ENCODE dbSUPER 9.8 -150.4 -150385 3.1 PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 ATF7 RUNX3 CAVIN1 JUNB LINC00964 ZNF572 MTSS1 SQLE LOC105375744 LOC105375743 MIR4662B
GH08I124814 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.5 -183.2 -183200 2.1 HNRNPUL1 SMAD1 TAF9B ARNT RAD21 ZBTB40 CHAMP1 POLR2B FOS SMARCA5 WASHC5 WASHC5-AS1 ENSG00000253106 NSMCE2 TRMT12 MTSS1 ZNF572 LOC105375744 SQLE MIR4662A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SQLE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SQLE gene promoter:

Genomic Locations for SQLE Gene

Genomic Locations for SQLE Gene
chr8:124,998,478-125,022,284
(GRCh38/hg38)
Size:
23,807 bases
Orientation:
Plus strand
chr8:126,010,720-126,034,525
(GRCh37/hg19)

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 isoforms=90, posLast=290290, isoforms=426, and posLast=436436
  • 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

Gene Families for SQLE Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

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

Phenotypes From GWAS Catalog 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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SQLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA --
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 IEA,IBA --
GO:0010033 response to organic substance IEA --
GO:0016126 sterol biosynthetic process IBA,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

(26) 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 36
FAD Approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0

(14) 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
(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
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8

(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

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

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 33 34
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia SQLE 33 34
  • 89.04 (n)
dog
(Canis familiaris)
Mammalia SQLE 33 34
  • 88.42 (n)
rat
(Rattus norvegicus)
Mammalia Sqle 33
  • 83.01 (n)
mouse
(Mus musculus)
Mammalia Sqle 33 16 34
  • 82.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SQLE 34
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SQLE 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves SQLE 33 34
  • 73.71 (n)
lizard
(Anolis carolinensis)
Reptilia SQLE 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sqle 33
  • 67.21 (n)
zebrafish
(Danio rerio)
Actinopterygii sqlea 33 34
  • 65.17 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG1 33 34 36
  • 49.62 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15224g 33
  • 49.18 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL141C 33
  • 45.93 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons XF1 33
  • 50.72 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9714 33
rice
(Oryza sativa)
Liliopsida Os03g0231700 33
  • 51.91 (n)
Os.20969 33
wheat
(Triticum aestivum)
Liliopsida Ta.7591 33
corn
(Zea mays)
Liliopsida Zm.7407 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg1 33
  • 50.04 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08280 33
  • 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 Variation AA Info Type
rs1000201348 -- 125,006,822(+) AGCCTCCCGAGTAGC/AGC intron_variant
rs1000310240 -- 125,007,106(+) A/T intron_variant
rs1000355779 -- 125,013,489(+) A/T intron_variant
rs1000958458 -- 124,996,917(+) T/C upstream_transcript_variant
rs1001209805 -- 125,015,981(+) A/G 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)

Additional Variant Information for SQLE Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for SQLE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. Transcriptional regulation of squalene epoxidase by sterols and inhibitors in HeLa cells. (PMID: 8626488) Nakamura Y … Ono T (The Journal of biological chemistry 1996) 3 4 22 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 44 58
  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 MW … Brandt BH (British journal of cancer 2008) 3 22 58

Products for SQLE Gene

Sources for SQLE Gene

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