LTC4S leukotriene C4 synthase [Homo sapiens (human)] - Gene

Summary

Official Symbol: LTC4Sprovided by HGNC
Official Full Name: leukotriene C4 synthaseprovided by HGNC
Primary source: HGNC:HGNC:6719
See related: Ensembl:ENSG00000213316 MIM:246530; AllianceGenome:HGNC:6719
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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 biosynthesis of cysteinyl leukotrienes, potent biological compounds derived from arachidonic acid. Leukotrienes have been implicated as mediators of anaphylaxis and inflammatory conditions such as human bronchial asthma. This protein localizes to the nuclear envelope and adjacent endoplasmic reticulum. [provided by RefSeq, Jul 2008]
Expression: Broad expression in fat (RPKM 3.3), lung (RPKM 2.5) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (179793986..179796647)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (180349182..180351843)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (179220987..179223648)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effect of TGF-beta1 on eosinophils to induce cysteinyl leukotriene E4 production in aspirin-exacerbated respiratory disease.
Title: Effect of TGF-β1 on eosinophils to induce cysteinyl leukotriene E4 production in aspirin-exacerbated respiratory disease.
mutational and kinetic data, together with molecular simulations, suggest that phosphorylation of Ser(36) inhibits the catalytic function of LTC4S by interference with the catalytic machinery.
Title: Phosphorylation of Leukotriene C4 Synthase at Serine 36 Impairs Catalytic Activity.
Biochemical and structural characterization of LTC4S mutants along with crystal structures of the wild type and mutated enzymes in complex with three product analogs, provide new insights to binding of substrates and product.
Title: Crystal structures of leukotriene C4 synthase in complex with product analogs: implications for the enzyme mechanism.
The results of our study failed to confirm whether the selected variants in LTC4S gene within the LT metabolism pathway contribute to platelet reactivity in a diabetic population treated with ASA.
Title: Lack of effect of common single nucleotide polymorphisms in leukotriene pathway genes on platelet reactivity in patients with diabetes.
Elevated levels of leukotriene C4 synthase mRNA distinguish a subpopulation of eosinophilic oesophagitis patients.
Title: Elevated levels of leukotriene C4 synthase mRNA distinguish a subpopulation of eosinophilic oesophagitis patients.
genetic association studies in population of Han Chinese in Eastern China: Data suggest that an SNP in LTC4S (rs730012) is associated with risk of ischemic stroke; carriers of C allele of rs730012 in LTC4S are most susceptible to ischemic stroke.
Title: Genetic variation in members of the leukotrienes biosynthesis pathway confers risk of ischemic stroke in Eastern Han Chinese.
meta-analysis suggested that the -444A/C polymorphism in the LTC4S gene would be a risk factor for asthma in Caucasians and aspirin-tolerant populations
Title: The -444A/C polymorphism in the LTC4S gene and the risk of asthma: a meta-analysis.
A significant association has been found between the -1072G/A (rs3776944) SNP in the LTC4S gene and atopic asthma in the family-based analysis.
Title: Association of the -1072G/A polymorphism in the LTC4S gene with asthma in an Indian population.
The SNPs of ALOX(5)AP and LTC(4)S are associated with asthma.
Title: [Association of leukotriene gene polymorphisms with response to antileukotriene treatment in patients with asthma].
investigation of catalytic mechanism of LTC4S: Data suggest that glutathione thiolate anion formation in LTC4S is not rate-limiting for overall reaction of leukotriene C4 production. Thiolate anion is stabilized by Arg104 at all three active sites.
Title: Pre-steady-state kinetic characterization of thiolate anion formation in human leukotriene C₄ synthase.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypotonia-failure to thrive-microcephaly syndrome MedGen: C3279662 OMIM: 614037 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme activator activity	IEA Inferred from Electronic Annotation more info
enables glutathione peroxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glutathione transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables leukotriene-C4 synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables leukotriene-C4 synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables lipid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in leukotriene biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within leukotriene metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in leukotriene metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in long-chain fatty acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	TAS Traceable Author Statement more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	TAS Traceable Author Statement more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear outer membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: leukotriene C4 synthase

Names: LTC4 synthase; glutathione S-transferase LTC4

NP_665874.1

EC 4.4.1.20

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028161.2 RefSeqGene

Range

5002..7663

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_145867.2 → NP_665874.1 leukotriene C4 synthase

See identical proteins and their annotated locations for NP_665874.1

Status: REVIEWED

Source sequence(s)

AC008393

Consensus CDS

CCDS34316.1

UniProtKB/Swiss-Prot

Q16873, Q8N6P0, Q9UC73, Q9UD18

Related

ENSP00000292596.10, ENST00000292596.15

Conserved Domains (1) summary

pfam01124
Location:8 → 100

MAPEG; MAPEG family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

179793986..179796647

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_016107298.1 Reference GRCh38.p14 PATCHES

Range

559563..562224

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

180349182..180351843

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Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_000897.2: Suppressed sequence

Description

NM_000897.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.