Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4056
Gene name	Leukotriene C4 synthase
Gene symbol	LTC4S
Synonyms (NCBI Gene)	-
Chromosome	5
Chromosome location	5q35.3
Summary	The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family includes a number of human proteins, several of which are involved the production of leukotrienes. This gene encodes an enzyme that catalyzes the first step in the bi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs730012	A>C,T	Drug-response	Upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016938	hsa-miR-335-5p	Microarray	18185580
MIRT1122211	hsa-miR-339-3p	CLIP-seq
MIRT1122212	hsa-miR-4707-5p	CLIP-seq
MIRT1122213	hsa-miR-4749-3p	CLIP-seq

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Transcription factor	Regulation	Reference
KLF6	Unknown	10722737
NFKB1	Repression	12574384
RELA	Repression	12574384
SP1	Unknown	10722737;10919991
SP3	Unknown	10919991

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004364	Function	Glutathione transferase activity	IBA
GO:0004464	Function	Leukotriene-C4 synthase activity	IBA
GO:0004464	Function	Leukotriene-C4 synthase activity	IDA	8706658, 9153254
GO:0004464	Function	Leukotriene-C4 synthase activity	IEA
GO:0004464	Function	Leukotriene-C4 synthase activity	TAS	8052639
GO:0004602	Function	Glutathione peroxidase activity	IBA
GO:0005515	Function	Protein binding	IPI	19233132, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IBA
GO:0005635	Component	Nuclear envelope	IDA	7599836, 19233132
GO:0005635	Component	Nuclear envelope	TAS
GO:0005640	Component	Nuclear outer membrane	IDA	12023288
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	19233132
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	12023288
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006691	Process	Leukotriene metabolic process	IDA	8706658
GO:0006691	Process	Leukotriene metabolic process	IDA	9153254
GO:0006691	Process	Leukotriene metabolic process	IEA
GO:0006691	Process	Leukotriene metabolic process	IEA
GO:0008047	Function	Enzyme activator activity	IEA
GO:0008289	Function	Lipid binding	IDA	8706658
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8052639
GO:0016740	Function	Transferase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0019370	Process	Leukotriene biosynthetic process	IBA
GO:0019370	Process	Leukotriene biosynthetic process	IEA
GO:0031965	Component	Nuclear membrane	IDA	12023288
GO:0031965	Component	Nuclear membrane	IEA
GO:0042759	Process	Long-chain fatty acid biosynthetic process	IDA	27791009
GO:0042802	Function	Identical protein binding	IPI	15530365, 17632546, 17632548
GO:0043231	Component	Intracellular membrane-bounded organelle	TAS	1454853
GO:0046394	Process	Carboxylic acid biosynthetic process	IEA
GO:0098869	Process	Cellular oxidant detoxification	IEA

MIM	HGNC	e!Ensembl
246530	6719	ENSG00000213316

Q16873

Protein name

Leukotriene C4 synthase (LTC4 synthase) (EC 4.4.1.20) (Glutathione S-transferase LTC4) (EC 2.5.1.-) (Leukotriene-C(4) synthase) (Leukotriene-C4 synthase)

Protein function

Catalyzes the conjugation of leukotriene A4 with reduced glutathione (GSH) to form leukotriene C4 with high specificity (PubMed:23409838, PubMed:27365393, PubMed:27791009, PubMed:7937884, PubMed:9153254). Can also catalyze the transfer of a glut

PDB

2PNO , 2UUH , 2UUI , 3B29 , 3HKK , 3LEO , 3PCV , 4BPM , 4J7T , 4J7Y , 4JC7 , 4JCZ , 4JRZ , 4WAB , 5HV9 , 6R7D , 9G0U , 9G0V , 9G14 , 9G1T

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01124	MAPEG	8 → 131	MAPEG family	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscl

Sequence

MKDEVALLAAVTLLGVLLQAYFSLQVISARRAFRVSPPLTTGPPEFERVYRAQVNCSEYF
PLFLATLWVAGIFFHEGAAALCGLVYLFARLRYFQGYARSAQLRLAPLYASARALWLLVA
LAALGLLAHFLPAALRAALLGRLRTLLPWA

Sequence length

150

Interactions

View interactions

	KEGG		Reactome
	Arachidonic acid metabolism Metabolic pathways		Synthesis of 5-eicosatetraenoic acids Synthesis of Leukotrienes (LT) and Eoxins (EX) Synthesis of Lipoxins (LX) Biosynthesis of maresin conjugates in tissue regeneration (MCTR) Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR)

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)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTHMA, ASPIRIN-INDUCED	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma, nasal polyps, and aspirin intolerance	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotonia-failure to thrive-microcephaly syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (46)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	16730545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	21078989	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	21078989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10624490, 10887308, 10970818, 12063521, 12360108, 12534456, 12728163, 12968987, 14520724, 15131571, 15482000, 16024972, 16340173, 16825866, 17153879 View all (11 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	12360108, 12816731, 14520724, 16024972, 16675353, 17153879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	12728163, 16024972, 17153879, 20980252, 23101307, 9092565, 9466979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma, Aspirin-Induced	Asthma	CTD_human_DG	10970818, 20485159, 9393345, 9466979		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma, Aspirin-Induced	Asthma	BEFREE	11964666, 12063521, 16505607, 21429049		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	12063521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	12968987, 17883728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19280718, 20456754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20456754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	20456754, 22769019	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17600229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	18323512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	18276912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	12589355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	19280718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17483957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29067980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	29067980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	23101307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	23889244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23889244	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	19280718, 20456754, 23079278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12591277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	1517222	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukotriene C4 Synthase Deficiency	Leukotriene C4 Synthase Deficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	BEFREE	19280718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	29067980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29067980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10666225, 12591277, 15009061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	20456754, 27893808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	20456754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	19280718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	23101307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30397274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	19665766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	19665766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	BEFREE	17063752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	19280718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	19862937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	Pubtator	19862937	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	20456754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

LTC4S (leukotriene C4 synthase)