LTC4S (leukotriene C4 synthase)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4056
Gene name Gene Name - the full gene name approved by the HGNC.
Leukotriene C4 synthase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LTC4S
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs730012 A>C,T Drug-response Upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004364 Function Glutathione transferase activity IBA 21873635
GO:0004464 Function Leukotriene-C4 synthase activity IBA 21873635
GO:0004464 Function Leukotriene-C4 synthase activity IDA 8706658, 9153254
GO:0004602 Function Glutathione peroxidase activity IBA 21873635
GO:0005515 Function Protein binding IPI 19233132, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
246530 6719 ENSG00000213316
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma, Aspirin-Induced 10970818, 9393345, 9466979, 20485159 ClinVar
Show/Hide Text Mining Associations (24)
Associations from Text Mining
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