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Aliases for LTC4S Gene

Aliases for LTC4S Gene

  • Leukotriene C4 Synthase 2 3 5
  • Leukotriene-C(4) Synthase 4
  • LTC4 Synthase 4
  • EC 4.4.1.20 4

External Ids for LTC4S Gene

Previous GeneCards Identifiers for LTC4S Gene

  • GC05P179333
  • GC05P180165
  • GC05P179285
  • GC05P179330
  • GC05P179153
  • GC05P179220
  • GC05P173947

Summaries for LTC4S Gene

Entrez Gene Summary for LTC4S 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 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]

GeneCards Summary for LTC4S Gene

LTC4S (Leukotriene C4 Synthase) is a Protein Coding gene. Diseases associated with LTC4S include Leukotriene C4 Synthase Deficiency and Urticaria. Among its related pathways are Arachidonic acid metabolism and PEDF Induced Signaling. GO annotations related to this gene include lipid binding and glutathione transferase activity. An important paralog of this gene is MGST2.

UniProtKB/Swiss-Prot for LTC4S Gene

  • Catalyzes the conjugation of leukotriene A4 with reduced glutathione to form leukotriene C4.

Gene Wiki entry for LTC4S Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LTC4S Gene

Genomics for LTC4S Gene

Regulatory Elements for LTC4S Gene

Enhancers for LTC4S Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G179761 1.5 Ensembl ENCODE dbSUPER 13.5 -30.9 -30946 2.9 HDGF PKNOX1 ARID4B ZNF2 GLIS2 GATA2 ZNF143 FOS ZNF263 REST MAML1 LTC4S MIR1229 MGAT4B SQSTM1 CBY3 MRNIP TBC1D9B GC05P179776
GH05G179758 1.5 Ensembl ENCODE dbSUPER 13.5 -34.2 -34180 2.0 HDGF PKNOX1 MLX ARID4B DMAP1 ZNF48 ZNF121 FOS ZNF263 SP5 MAML1 CANX ZNF879 LTC4S MIR1229 SQSTM1 MGAT4B HMGB3P22 CBY3 ZNF354B
GH05G179754 1.4 Ensembl ENCODE dbSUPER 13.4 -39.0 -39045 1.4 ELF3 ARID4B RAD21 RARA MIXL1 THAP11 PAF1 CEBPB PPARG SSRP1 MAML1 LTC4S MIR1229 MGAT4B SQSTM1 CBY3 HMGB3P22 CANX TBC1D9B MRNIP
GH05G179764 1.3 Ensembl ENCODE dbSUPER 13.6 -28.1 -28098 2.2 HDAC1 YY1 TCF12 GATA2 FOS EGR2 REST ZEB2 ZNF592 SMARCA4 MAML1 MGAT4B LTC4S MIR1229 SQSTM1 CBY3 MRNIP TBC1D9B CANX RNF130
GH05G179696 1.4 ENCODE dbSUPER 11.5 -95.0 -95036 4.9 CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 ZNF354B MAML1 CANX MGAT4B ZNF879 ZNF454 GFPT2 LOC100996419 MIR1229 LTC4S
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LTC4S on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the LTC4S gene promoter:

Genomic Location for LTC4S Gene

Chromosome:
5
Start:
179,793,980 bp from pter
End:
179,796,647 bp from pter
Size:
2,668 bases
Orientation:
Plus strand

Genomic View for LTC4S Gene

Genes around LTC4S on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LTC4S Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LTC4S Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LTC4S Gene

Proteins for LTC4S Gene

  • Protein details for LTC4S Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16873-LTC4S_HUMAN
    Recommended name:
    Leukotriene C4 synthase
    Protein Accession:
    Q16873
    Secondary Accessions:
    • Q8N6P0
    • Q9UC73
    • Q9UD18

    Protein attributes for LTC4S Gene

    Size:
    150 amino acids
    Molecular mass:
    16567 Da
    Quaternary structure:
    • Homotrimer. Interacts with ALOX5AP and ALOX5.

    Three dimensional structures from OCA and Proteopedia for LTC4S Gene

neXtProt entry for LTC4S Gene

Post-translational modifications for LTC4S Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LTC4S Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LTC4S Gene

Domains & Families for LTC4S Gene

Gene Families for LTC4S Gene

Suggested Antigen Peptide Sequences for LTC4S Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16873

UniProtKB/Swiss-Prot:

LTC4S_HUMAN :
  • Belongs to the MAPEG family.
Family:
  • Belongs to the MAPEG family.
genes like me logo Genes that share domains with LTC4S: view

Function for LTC4S Gene

Molecular function for LTC4S Gene

GENATLAS Biochemistry:
leukotriene C4 synthase,microsomal,GST superfamily
UniProtKB/Swiss-Prot CatalyticActivity:
Leukotriene C(4) = leukotriene A(4) + glutathione.
UniProtKB/Swiss-Prot Function:
Catalyzes the conjugation of leukotriene A4 with reduced glutathione to form leukotriene C4.

Enzyme Numbers (IUBMB) for LTC4S Gene

Gene Ontology (GO) - Molecular Function for LTC4S Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004364 glutathione transferase activity IBA --
GO:0004464 leukotriene-C4 synthase activity IDA 8706658
GO:0004602 glutathione peroxidase activity IBA --
GO:0005515 protein binding IPI 19233132
GO:0008047 enzyme activator activity IEA --
genes like me logo Genes that share ontologies with LTC4S: view
genes like me logo Genes that share phenotypes with LTC4S: view

Human Phenotype Ontology for LTC4S Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LTC4S Gene

MGI Knock Outs for LTC4S:

Animal Model Products

miRNA for LTC4S Gene

miRTarBase miRNAs that target LTC4S

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for LTC4S Gene

Localization for LTC4S Gene

Subcellular locations from UniProtKB/Swiss-Prot for LTC4S Gene

Nucleus outer membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LTC4S gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
plasma membrane 2
extracellular 2
cytosol 1

Gene Ontology (GO) - Cellular Components for LTC4S Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
GO:0005640 nuclear outer membrane IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 19233132
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with LTC4S: view

Pathways & Interactions for LTC4S Gene

genes like me logo Genes that share pathways with LTC4S: view

Gene Ontology (GO) - Biological Process for LTC4S Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006691 leukotriene metabolic process TAS --
GO:0019370 leukotriene biosynthetic process IEA,IBA --
GO:0019372 lipoxygenase pathway TAS --
GO:0043085 positive regulation of catalytic activity IEA --
GO:0098869 cellular oxidant detoxification IEA --
genes like me logo Genes that share ontologies with LTC4S: view

No data available for SIGNOR curated interactions for LTC4S Gene

Drugs & Compounds for LTC4S Gene

(14) Drugs for LTC4S Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved Nutra Target 0
Aspirin Approved, Vet_approved Pharma Channel blocker 1152
Montelukast Approved Pharma Antagonist 270

(14) Additional Compounds for LTC4S Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Leukotriene A4
  • (5S,6S,7E,9E,11Z,14Z)-5,6-Epoxyicosa-7,9,11,14-tetraenoate
  • (5S,6S,7E,9E,11Z,14Z)-5,6-Epoxyicosa-7,9,11,14-tetraenoic acid
  • (7E,9E,11Z,14Z)-(5S,6S)-5,6-Epoxyeicosa-7,9,11,14-tetraenoate
  • (7E,9E,11Z,14Z)-(5S,6S)-5,6-Epoxyeicosa-7,9,11,14-tetraenoic acid
  • (7E,9E,11Z,14Z)-(5S,6S)-5,6-epoxyicosa- 7,9,11,14-tetraenoate
72059-45-1
Leukotriene C4
  • (R-(R*,S*-(E,E,Z,Z)))-N-(S-(1-(4-carboxy-1-hydroxybutyl)-2,4,6,9-pentadecatetraenyl)-N-L-gamma-glutamyl-L-cysteinyl)-Glycine
  • 5S,6R-Ltc
  • 5S-Hydroxy,6R-(S-glutathionyl),7E,9E,11Z,14Z-eicosatetraenoate
  • 5S-Hydroxy,6R-(S-glutathionyl),7E,9E,11Z,14Z-eicosatetraenoic acid
  • L-gamma-Glutamyl-S-[(1R,2E,4E,6Z,9Z)-1-[(1S)-4-carboxy-1-hydroxybutyl]-2,4,6,9-pentadecatetraenyl]-L-cysteinyl-glycine
72025-60-6
genes like me logo Genes that share compounds with LTC4S: view

Transcripts for LTC4S Gene

Unigene Clusters for LTC4S Gene

Leukotriene C4 synthase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LTC4S Gene

No ASD Table

Relevant External Links for LTC4S Gene

GeneLoc Exon Structure for
LTC4S
ECgene alternative splicing isoforms for
LTC4S

Expression for LTC4S Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LTC4S Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LTC4S Gene

This gene is overexpressed in Peripheral blood mononuclear cells (33.9), Gallbladder (13.4), Placenta (8.0), and Urinary Bladder (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LTC4S Gene



Protein tissue co-expression partners for LTC4S Gene

NURSA nuclear receptor signaling pathways regulating expression of LTC4S Gene:

LTC4S

SOURCE GeneReport for Unigene cluster for LTC4S Gene:

Hs.706741

mRNA Expression by UniProt/SwissProt for LTC4S Gene:

Q16873-LTC4S_HUMAN
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 muscle cells and platelets.

Evidence on tissue expression from TISSUES for LTC4S Gene

  • Blood(4.4)
  • Lung(4.3)
  • Bone marrow(4.2)
  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LTC4S Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • head
  • skull
genes like me logo Genes that share expression patterns with LTC4S: view

Primer Products

No data available for mRNA differential expression in normal tissues for LTC4S Gene

Orthologs for LTC4S Gene

This gene was present in the common ancestor of chordates.

Orthologs for LTC4S Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LTC4S 34 35
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia LTC4S 34 35
  • 92.03 (n)
dog
(Canis familiaris)
Mammalia LTC4S 35 34
  • 89.43 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ltc4s 34 16 35
  • 89.19 (n)
rat
(Rattus norvegicus)
Mammalia Ltc4s 34
  • 88.89 (n)
oppossum
(Monodelphis domestica)
Mammalia LTC4S 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC770619 34
  • 72.37 (n)
LTC4S 35
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LTC4S 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mgst2 34
  • 66.36 (n)
zebrafish
(Danio rerio)
Actinopterygii ltc4s 35
  • 54 (a)
OneToOne
Species where no ortholog for LTC4S was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LTC4S Gene

ENSEMBL:
Gene Tree for LTC4S (if available)
TreeFam:
Gene Tree for LTC4S (if available)

Paralogs for LTC4S Gene

Paralogs for LTC4S Gene

(2) SIMAP similar genes for LTC4S Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with LTC4S: view

Variants for LTC4S Gene

Sequence variations from dbSNP and Humsavar for LTC4S Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs730012 drug-response 179,793,637(+) GGGAC(A/C)GGGAA upstream-variant-2KB
rs1000228921 -- 179,794,001(+) TGGGC(C/T)GTCCT utr-variant-5-prime
rs1000945538 -- 179,795,971(+) CTACC(C/T)GTTCG reference, missense
rs1001503392 -- 179,792,798(+) CCATG(C/T)GGCCC upstream-variant-2KB
rs1001760304 -- 179,792,079(+) AGGGA(G/T)GTGGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LTC4S Gene

Variant ID Type Subtype PubMed ID
dgv10240n54 CNV loss 21841781
dgv10241n54 CNV loss 21841781
nsv1119059 CNV deletion 24896259
nsv469579 CNV loss 16826518
nsv518964 CNV loss 19592680
nsv600659 CNV loss 21841781
nsv600660 CNV loss 21841781
nsv600661 CNV loss 21841781
nsv823361 CNV loss 20364138

Variation tolerance for LTC4S Gene

Residual Variation Intolerance Score: 51.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LTC4S Gene

Human Gene Mutation Database (HGMD)
LTC4S
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LTC4S

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LTC4S Gene

Disorders for LTC4S Gene

MalaCards: The human disease database

(7) MalaCards diseases for LTC4S Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukotriene c4 synthase deficiency
  • hypotonia-failure to thrive-microcephaly syndrome
urticaria
henoch-schoenlein purpura
  • allergic purpura
asthma
  • asthma, protection against
sinusitis
- elite association - COSMIC cancer census association via MalaCards
Search LTC4S in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LTC4S_HUMAN
  • Note=LTC4 synthase deficiency is associated with a neurometabolic developmental disorder characterized by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.

Relevant External Links for LTC4S

Genetic Association Database (GAD)
LTC4S
Human Genome Epidemiology (HuGE) Navigator
LTC4S
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LTC4S
genes like me logo Genes that share disorders with LTC4S: view

No data available for Genatlas for LTC4S Gene

Publications for LTC4S Gene

  1. Structural basis for synthesis of inflammatory mediators by human leukotriene C4 synthase. (PMID: 17632546) Martinez Molina D. … Nordlund P. (Nature 2007) 3 4 22 25 64
  2. Crystal structure of a human membrane protein involved in cysteinyl leukotriene biosynthesis. (PMID: 17632548) Ago H. … Miyano M. (Nature 2007) 3 4 22 25 64
  3. Expression cloning of a cDNA for human leukotriene C4 synthase, an integral membrane protein conjugating reduced glutathione to leukotriene A4. (PMID: 8052639) Lam B.K. … Austen K.F. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 22 64
  4. The A-444C polymorphism in the leukotriene C4 synthase gene is associated with aspirin-induced urticaria. (PMID: 19862937) SA!nchez-Borges M. … Caraballo L. (J Investig Allergol Clin Immunol 2009) 3 22 46 64
  5. 5-lipoxygenase pharmacogenetics in asthma: overlap with Cys-leukotriene receptor antagonist loci. (PMID: 19214143) Tantisira K.G. … Weiss S.T. (Pharmacogenet. Genomics 2009) 3 22 46 64

Products for LTC4S Gene

Sources for LTC4S Gene

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