SQLE (squalene epoxidase)

Gene

• Entrez ID: 6713
• Gene name: Squalene epoxidase
• Gene symbol: SQLE
• Synonyms (NCBI Gene): -
• Chromosome: 8
• Chromosome location: 8q24.13
• 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018458	hsa-miR-335-5p	Microarray	18185580
MIRT051529	hsa-let-7e-5p	CLASH	23622248
MIRT172529	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT172529	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT1387444	hsa-miR-1183	CLIP-seq
MIRT1387445	hsa-miR-1298	CLIP-seq
MIRT1387446	hsa-miR-133a	CLIP-seq
MIRT1387447	hsa-miR-133b	CLIP-seq
MIRT1387448	hsa-miR-205	CLIP-seq
MIRT1387449	hsa-miR-3127-3p	CLIP-seq
MIRT1387450	hsa-miR-3146	CLIP-seq
MIRT1387451	hsa-miR-3168	CLIP-seq
MIRT1387452	hsa-miR-3613-3p	CLIP-seq
MIRT1387453	hsa-miR-3692	CLIP-seq
MIRT1387454	hsa-miR-4279	CLIP-seq
MIRT1387455	hsa-miR-4310	CLIP-seq
MIRT1387456	hsa-miR-4422	CLIP-seq
MIRT1387457	hsa-miR-4436b-5p	CLIP-seq
MIRT1387458	hsa-miR-4699-3p	CLIP-seq
MIRT1387459	hsa-miR-4703-3p	CLIP-seq
MIRT1387460	hsa-miR-4719	CLIP-seq
MIRT1387461	hsa-miR-4735-5p	CLIP-seq
MIRT1387462	hsa-miR-4762-5p	CLIP-seq
MIRT1387463	hsa-miR-513b	CLIP-seq
MIRT1387464	hsa-miR-518a-5p	CLIP-seq
MIRT1387465	hsa-miR-522	CLIP-seq
MIRT1387466	hsa-miR-527	CLIP-seq
MIRT1387467	hsa-miR-548a-3p	CLIP-seq
MIRT1387468	hsa-miR-548ae	CLIP-seq
MIRT1387469	hsa-miR-548aj	CLIP-seq
MIRT1387470	hsa-miR-548am	CLIP-seq
MIRT1387471	hsa-miR-548e	CLIP-seq
MIRT1387472	hsa-miR-548f	CLIP-seq
MIRT1387473	hsa-miR-548g	CLIP-seq
MIRT1387474	hsa-miR-548x	CLIP-seq
MIRT1387475	hsa-miR-579	CLIP-seq
MIRT1387476	hsa-miR-584	CLIP-seq
MIRT1387477	hsa-miR-664	CLIP-seq
MIRT2116103	hsa-miR-1236	CLIP-seq
MIRT1387448	hsa-miR-205	CLIP-seq
MIRT1387449	hsa-miR-3127-3p	CLIP-seq
MIRT1387461	hsa-miR-4735-5p	CLIP-seq
MIRT1387475	hsa-miR-579	CLIP-seq
MIRT1387476	hsa-miR-584	CLIP-seq
MIRT2116103	hsa-miR-1236	CLIP-seq
MIRT2338530	hsa-miR-3117-3p	CLIP-seq
MIRT1387449	hsa-miR-3127-3p	CLIP-seq
MIRT2338531	hsa-miR-3169	CLIP-seq
MIRT2338532	hsa-miR-4759	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004506	Function	Squalene monooxygenase activity	IBA
GO:0004506	Function	Squalene monooxygenase activity	IDA	30626872
GO:0004506	Function	Squalene monooxygenase activity	IEA
GO:0004506	Function	Squalene monooxygenase activity	NAS	9286711
GO:0005515	Function	Protein binding	IPI	29765154, 32296183
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	26434806
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IC	30626872
GO:0006695	Process	Cholesterol biosynthetic process	IDA	33791309
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016020	Component	Membrane	IDA	30626872
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	IEA
GO:0016126	Process	Sterol biosynthetic process	IBA
GO:0016126	Process	Sterol biosynthetic process	IDA	30626872
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016126	Process	Sterol biosynthetic process	NAS	9286711
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042127	Process	Regulation of cell population proliferation	IMP	29765154
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	30626872
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0071949	Function	FAD binding	IDA	30626872
GO:0140042	Process	Lipid droplet formation	IMP	29765154
GO:1904614	Process	Response to biphenyl	IEA

Other IDs

• MIM: 602019
• HGNC: 11279
• e!Ensembl: ENSG00000104549

Protein

• UniProt ID: Q14534
• Protein name: Squalene monooxygenase (EC 1.14.14.17) (Squalene epoxidase) (SE)
• Protein function: Catalyzes the stereospecific oxidation of squalene to (S)-2,3-epoxysqualene, and is considered to be a rate-limiting enzyme in steroid biosynthesis.
• PDB: 6C6N, 6C6P, 6C6R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13450	NAD_binding_8	128 → 156		Domain
  PF08491	SE	277 → 548	Squalene epoxidase	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in liver (at protein level). {ECO:0000269|PubMed:30626872}.
• Sequence:

  MWTFLGIATFTYFYKKFGDFITLANREVLLCVLVFLSLGLVLSYRCRHRNGGLLGRQQSG
  SQFALFSDILSGLPFIGFFWAKSPPESENKEQLEARRRRKGTNISETSLIGTAACTSTSS
  QNDPEVIIVGAGVLGSALAAVLSRDGRKVTVIERDLKEPDRIVGEFLQPGGYHVLKDLGL
  GDTVEGLDAQVVNGYMIHDQESKSEVQIPYPLSENNQVQSGRAFHHGRFIMSLRKAAMAE
  PNAKFIEGVVLQLLEEDDVVMGVQYKDKETGDIKELHAPLTVVADGLFSKFRKSLVSNKV
  SVSSHFVGFLMKNAPQFKANHAELILANPSPVLIYQISSSETRVLVDIRGEMPRNLREYM
  VEKIYPQIPDHLKEPFLEATDNSHLRSMPASFLPPSSVKKRGVLLLGDAYNMRHPLTGGG
  MTVAFKDIKLWRKLLKGIPDLYDDAAIFEAKKSFYWARKTSHSFVVNILAQALYELFSAT
  DDSLHQLRKACFLYFKLGGECVAGPVGLLSVLSPNPLVLIGHFFAVAIYAVYFCFKSEPW
  ITKPRALLSSGAVLYKACSVIFPLIYSEMKYMVH

• Sequence length: 574

Pathways

KEGG:

Steroid biosynthesis
Metabolic pathways

Reactome:

Cholesterol biosynthesis
Activation of gene expression by SREBF (SREBP)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Acanthosis Nigricans	Associate	35277199	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Associate	17666451	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Associate	17666451, 23958186	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	17925008, 26109344, 26777065, 27246191, 29228969, 34715817, 35045984	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Stimulate	18728668	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Stimulate	32216563, 36581319, 37461802	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	35045984	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	34513998	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	30734525	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Associate	18240242	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	33942366, 37705742, 37781510	★☆☆☆☆ Found in Text Mining only
Death	Associate	18240242	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Associate	38537696	★☆☆☆☆ Found in Text Mining only
Epstein Barr Virus Infections	Associate	36768307	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Associate	37032358	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Inhibit	35962621	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Associate	22759382	★☆☆☆☆ Found in Text Mining only
Homocysteinemia	Associate	16011963	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Associate	35277199	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Associate	35720314	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	30734525	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Stimulate	38084535	★☆☆☆☆ Found in Text Mining only
Lymphoma B Cell	Associate	31748270	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Associate	36273157	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	33579893	★☆☆☆☆ Found in Text Mining only
Mycoses	Associate	35813482	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	18728668, 30734525	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	35813482, 36581319	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	22759382, 27325648, 30626880, 30867220, 32216563, 35045984, 35638462, 35720314, 36224346, 36581319, 36649564, 38280406, 38537696	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	35813482, 37542052, 38084535	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Associate	30626880	★☆☆☆☆ Found in Text Mining only
Non alcoholic Fatty Liver Disease	Stimulate	32216563	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Associate	18728668	★☆☆☆☆ Found in Text Mining only
Onychomycosis	Associate	37236595	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	39608425, 40383808	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	35638462, 37542052	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Stimulate	35720314	★☆☆☆☆ Found in Text Mining only
Parakeratosis	Stimulate	35277199	★☆☆☆☆ Found in Text Mining only
Prodromal Symptoms	Associate	18728668	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	20386565, 27325648, 28595267	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Associate	33525094	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Associate	30626880	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	35813482	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	38084535	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Associate	35982471	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	34418989, 38280406	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Associate	36536343	★☆☆☆☆ Found in Text Mining only