ENSG00000117560


Homo sapiens

Features
Gene ID: ENSG00000117560
  
Biological name :FASLG
  
Synonyms : FASLG / Fas ligand / P48023
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q24.3
Gene start: 172659018
Gene end: 172666874
  
Corresponding Affymetrix probe sets: 210865_at (Human Genome U133 Plus 2.0 Array)   211333_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000344739
Ensembl peptide - ENSP00000356694
NCBI entrez gene - 356     See in Manteia.
OMIM - 134638
RefSeq - NM_001302746
RefSeq - NM_000639
RefSeq Peptide - NP_000630
RefSeq Peptide - NP_001289675
swissprot - P48023
swissprot - Q53ZZ1
Ensembl - ENSG00000117560
  
Related genetic diseases (OMIM): 211980 - {Lung cancer, susceptibility to}, 211980
  601859 - Autoimmune lymphoproliferative syndrome, type IB, 601859
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
 faslgENSDARG00000098913Danio rerio
 FASLGENSGALG00000003076Gallus gallus
 FaslENSMUSG00000000817Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O95150 / TNFSF15 / TNF superfamily member 15ENSG0000018163421
O43557 / TNFSF14 / TNF superfamily member 14ENSG0000012573521
TNF / P01375 / tumor necrosis factorENSG0000023281019
LTA / P01374 / lymphotoxin alphaENSG0000022697918


Protein motifs (from Interpro)
Interpro ID Name
 IPR006052  Tumour necrosis factor domain
 IPR006053  Tumour necrosis factor
 IPR008983  Tumour necrosis factor-like domain superfamily
 IPR021184  Tumour necrosis factor, conserved site
 IPR028326  Tumor necrosis factor ligand superfamily member 6


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006915 apoptotic process TAS
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IGI
 biological_processGO:0006925 inflammatory cell apoptotic process IEA
 biological_processGO:0006955 immune response IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007267 cell-cell signaling TAS
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0008625 extrinsic apoptotic signaling pathway via death domain receptors IDA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0016525 negative regulation of angiogenesis IDA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0030644 cellular chloride ion homeostasis IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0033209 tumor necrosis factor-mediated signaling pathway TAS
 biological_processGO:0043065 positive regulation of apoptotic process IDA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
 biological_processGO:0043525 positive regulation of neuron apoptotic process IEA
 biological_processGO:0045742 positive regulation of epidermal growth factor receptor signaling pathway IEA
 biological_processGO:0046666 retinal cell programmed cell death IEA
 biological_processGO:0048388 endosomal lumen acidification IEA
 biological_processGO:0070231 T cell apoptotic process IDA
 biological_processGO:0070266 necroptotic process IDA
 biological_processGO:0070848 response to growth factor IEA
 biological_processGO:0097190 apoptotic signaling pathway IDA
 biological_processGO:0097191 extrinsic apoptotic signaling pathway IDA
 biological_processGO:0097296 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway TAS
 biological_processGO:0097527 necroptotic signaling pathway IDA
 biological_processGO:1902041 regulation of extrinsic apoptotic signaling pathway via death domain receptors TAS
 biological_processGO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors TAS
 biological_processGO:1903514 release of sequestered calcium ion into cytosol by endoplasmic reticulum IDA
 biological_processGO:2000353 positive regulation of endothelial cell apoptotic process IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0005901 caveola IEA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0043202 lysosomal lumen IEA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0060205 cytoplasmic vesicle lumen IEA
 cellular_componentGO:0070062 extracellular exosome IDA
 molecular_functionGO:0005102 signaling receptor binding TAS
 molecular_functionGO:0005123 death receptor binding IEA
 molecular_functionGO:0005125 cytokine activity IEA
 molecular_functionGO:0005164 tumor necrosis factor receptor binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
via Death Receptors in the presence of ligand
Regulation by c-FLIP
RIPK1-mediated regulated necrosis
CASP8 activity is inhibited
Interleukin-4 and Interleukin-13 signaling
Dimerization of procaspase-8
FasL/ CD95L signaling
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimers disease models
TNFs bind their physiological receptors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001025 Urticaria 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001880 Eosinophilia "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken]
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 HP:0001890 Autoimmune hemolytic anemia 
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 HP:0001891 Iron deficiency anemia 
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 HP:0001904 Autoimmune neutropenia 
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 HP:0001973 Immune thrombocytopenia 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002633 Vasculitis 
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 HP:0002729 Lymph nodes show florid reactive follicular hyperplasia and marked paracortical expansion with immunoblasts and plasma cells 
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 HP:0002730 Chronic noninfectious lymphadenopathy 
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 HP:0002731 Defective lymphocyte apoptosis 
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 HP:0002851 Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors 
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 HP:0002853 Increased proportion of HLA DR+ and CD57+ T cells 
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 HP:0002923 Rheumatoid factor positive 
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 HP:0002972 Reduced delayed hypersensitivity 
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 HP:0003237 Increased IgG level "An abnormally increased level of immunoglobulin G in blood." [HPO:probinson]
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 HP:0003261 Increased IgA level "An abnormally increased level of immunoglobulin A in blood." [HPO:probinson]
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 HP:0003262 Smooth muscle antibody positive 
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 HP:0003453 Neutrophil antibody positive 
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 HP:0003454 Platelet antibody positive 
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 HP:0003493 Antinuclear antibody positive 
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 HP:0003496 Increased IgM level "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson]
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 HP:0003613 Phospholipid antibody positive 
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 HP:0004844 coombs-positive hemolytic anemia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000064012 CASP8 / Q14790 / caspase 8  / reaction / complex
 ENSG00000003400 CASP10 / Q92851 / caspase 10  / reaction / complex
 ENSG00000003402 CFLAR / O15519 / CASP8 and FADD like apoptosis regulator  / complex / reaction
 ENSG00000168040 FADD / Q13158 / Fas associated via death domain  / complex / reaction
 ENSG00000243509 O95407 / TNFRSF6B / TNF receptor superfamily member 6b  / reaction / complex
 ENSG00000117560 FASLG / P48023 / Fas ligand  / complex / reaction
 ENSG00000026103 FAS / P25445 / Fas cell surface death receptor  / reaction / complex






 

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