ENSG00000213316


Homo sapiens

Features
Gene ID: ENSG00000213316
  
Biological name :LTC4S
  
Synonyms : leukotriene C4 synthase / LTC4S / Q16873
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q35.3
Gene start: 179793980
Gene end: 179796647
  
Corresponding Affymetrix probe sets: 206480_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000292596
Ensembl peptide - ENSP00000493196
Ensembl peptide - ENSP00000427299
Ensembl peptide - ENSP00000385627
NCBI entrez gene - 4056     See in Manteia.
OMIM - 246530
RefSeq - NM_145867
RefSeq Peptide - NP_665874
swissprot - D6RJA1
swissprot - B5MCC3
swissprot - A0A286YF10
swissprot - Q16873
Ensembl - ENSG00000213316
  
Related genetic diseases (OMIM): 614037 - Leukotriene C4 synthase deficiency, 614037
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ltc4sENSDARG00000062598Danio rerio
 LTC4SENSGALG00000021275Gallus gallus
 Ltc4sENSMUSG00000020377Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MGST2 / Q99735 / microsomal glutathione S-transferase 2ENSG0000008587143
P20292 / ALOX5AP / arachidonate 5-lipoxygenase activating proteinENSG0000013296527


Protein motifs (from Interpro)
Interpro ID Name
 IPR001129  Membrane-associated, eicosanoid/glutathione metabolism (MAPEG) protein
 IPR001446  5-lipoxygenase-activating protein
 IPR018295  FLAP/GST2/LTC4S, conserved site
 IPR023352  Membrane associated eicosanoid/glutathione metabolism-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006691 leukotriene metabolic process IEA
 biological_processGO:0019370 leukotriene biosynthetic process IBA
 biological_processGO:0019372 lipoxygenase pathway TAS
 biological_processGO:0043085 positive regulation of catalytic activity IEA
 biological_processGO:0098869 cellular oxidant detoxification IEA
 biological_processGO:2001301 lipoxin biosynthetic process TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope TAS
 cellular_componentGO:0005640 nuclear outer membrane IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle TAS
 molecular_functionGO:0004364 glutathione transferase activity IBA
 molecular_functionGO:0004464 leukotriene-C4 synthase activity IDA
 molecular_functionGO:0004602 glutathione peroxidase activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008047 enzyme activator activity IEA
 molecular_functionGO:0008289 lipid binding IDA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
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)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001522 Death in infancy 
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 HP:0001531 Failure to thrive in infancy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000012779 ALOX5 / P09917 / arachidonate 5-lipoxygenase  / complex
 ENSG00000132965 P20292 / ALOX5AP / arachidonate 5-lipoxygenase activating protein  / complex
 ENSG00000213316 LTC4S / Q16873 / leukotriene C4 synthase  / complex






 

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