Gene Gene information from NCBI Gene database.
Entrez ID 4056
Gene name Leukotriene C4 synthase
Gene symbol LTC4S
Synonyms (NCBI Gene)
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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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs730012 A>C,T Drug-response Upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
4
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
KLF6 Unknown 10722737
NFKB1 Repression 12574384
RELA Repression 12574384
SP1 Unknown 10722737;10919991
SP3 Unknown 10919991
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
246530 6719 ENSG00000213316
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 150
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Asthma, nasal polyps, and aspirin intolerance Uncertain significance rs137887093 RCV003989340
Cervical cancer Uncertain significance rs137887093 RCV005937383
Clear cell carcinoma of kidney Uncertain significance rs137887093 RCV005937384
Familial pancreatic carcinoma Uncertain significance rs137887093 RCV005937385
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Aneurysm Abdominal Stimulate 21078989
Aortic Aneurysm Familial Abdominal 1 Associate 21078989
Asthma Associate 12728163, 16024972, 17153879, 20980252, 23101307, 9092565, 9466979
Asthma Aspirin Induced Associate 16340173, 19862937, 9466979
Cardiovascular Diseases Associate 20456754
Cerebral Infarction Associate 20456754, 22769019
Coronary Artery Disease Associate 29067980
Dermatitis Atopic 1 Associate 23101307
Drug Hypersensitivity Associate 15002759, 23889244
Esophageal Squamous Cell Carcinoma Stimulate 23889244