Endometriosis Knowledgebase

Search Result

Gene id

356

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

FASLG Gene UCSC Ensembl

Aliases

ALPS1B, APT1LG1, APTL, CD178, CD95-L, CD95L, FASL, TNFSF6, TNLG1A

Gene name

Fas ligand

Alternate names

tumor necrosis factor ligand superfamily member 6, CD95 ligand, Fas ligand (TNF superfamily, member 6), apoptosis (APO-1) antigen ligand 1, apoptosis antigen ligand, fas antigen ligand, mutant tumor necrosis factor family member 6, tumor necrosis factor ligand 1,

Gene location

1q24.3 (172659007: 172666872) Exons: 4 NC_000001.11

Gene summary(Entrez)

This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]

OMIM

134638

SNPs

rs1800796

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000669.2   g.22726627G>C
NC_000007.13   g.22766246G>C
NC_000007.14   g.22726627G>C
NG_011640.1   g.4481G>C
NM_000600.4   c.-636G>C
NM_001318095.1   c.-673G>C
NR_131935.1   n.132C>G
rs2243250

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000667.2   g.132673462C>T
NC_000005.10   g.132673462C>T
NC_000005.9   g.132009154C>T
NG_023252.1   g.4782C>T
NM_000589.3   c.-589C>T
NM_001354990.1   c.-589C>T
NM_172348.2   c.-589C>T
rs228953

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000684.2   g.37135396G>A
NC_000022.10   g.37531436G>A
NC_000022.11   g.37135396G>A
NM_000878.3   c.750C>T
NM_000878.4   c.750C>T
NM_001346222.1   c.750C>T
NM_001346223.1   c.750C>T
NP_000869.1   p.Gly250=
NP_001333151.1   p.Gly250=
NP_001333152.1   p.Gly250=
XP_005261656.1   p.Gly250=
rs763110

Strand:    Allele origin: T(germline)/C(germline)  Allele change: C/T   Mutation type: snp

CM000663.2   g.172658358C>T
NC_000001.10   g.172627498C=
NC_000001.10   g.172627498C>T
NC_000001.11   g.172658358C=
NC_000001.11   g.172658358C>T
NG_007269.1   g.4314C=
NG_007269.1   g.4314C>T
NM_000639.2   c.-157-687C>T
NM_000639.2   c.-844C=
NM_000639.2   c.-844C>T
NM_001302746.1   c.-844C=
NM_001302746.1   c.-844C>T
Clinical Significance: other

Protein Summary

Protein general information

P48023

Name: Tumor necrosis factor ligand superfamily member 6 (Apoptosis antigen ligand) (APTL) (CD95 ligand) (CD95 L) (Fas antigen ligand) (Fas ligand) (FasL) (CD antigen CD178) [Cleaved into: Tumor necrosis factor ligand superfamily member 6, membrane form; Tumor n

Length: 281 Mass: 31,485

Sequence

MQQPFNYPYPQIYWVDSSASSPWAPPGTVLPCPTSVPRRPGQRRPPPPPPPPPLPPPPPPPPLPPLPLPPLKKRG
NHSTGLCLLVMFFMVLVALVGLGLGMFQLFHLQKELAELRESTSQMHTASSLEKQIGHPSPPPEKKELRKVAHLT
GKSNSRSMPLEWEDTYGIVLLSGVKYKKGGLVINETGLYFVYSKVYFRGQSCNNLPLSHKVYMRNSKYPQDLVMM
EGKMMSYCTTGQMWARSSYLGAVFNLTSADHLYVNVSELSLVNFEESQTFFGLYKL

Structural information

Interpro:	IPR028326 IPR006053 IPR021184 IPR006052 IPR008983
Prosite:	PS00251 PS50049
Pfam:	PF00229
PDB:	1BZI 4MSV 5L19 5L36
PDBsum:	1BZI 4MSV 5L19 5L36
DIP:	2997
MINT:	238167
STRING:	ENSP00000356694;

Other Databases

GeneCards: FASLG; Malacards: FASLG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0005102	receptor binding	TAS	molecular_function
GO:0005123	death receptor binding	IEA	molecular_function
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005164	tumor necrosis factor rec eptor binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0005901	caveola	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IMP	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IGI	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	TAS	biological_process
GO:0006925	inflammatory cell apoptot ic process	IEA	biological_process
GO:0006955	immune response	IEA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0008625	extrinsic apoptotic signa ling pathway via death do main receptors	IDA	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0016525	negative regulation of an giogenesis	IDA	biological_process
GO:0030644	cellular chloride ion hom eostasis	IEA	biological_process
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEP	biological_process
GO:0043202	lysosomal lumen	IEA	cellular_component
GO:0043525	positive regulation of ne uron apoptotic process	IEA	biological_process
GO:0045742	positive regulation of ep idermal growth factor rec eptor signaling pathway	IEA	biological_process
GO:0046666	retinal cell programmed c ell death	IEA	biological_process
GO:0048388	endosomal lumen acidifica tion	IEA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0060205	cytoplasmic vesicle lumen	IEA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070231	T cell apoptotic process	IDA	biological_process
GO:0070266	necroptotic process	IDA	biological_process
GO:0070848	response to growth factor	IEA	biological_process
GO:0097190	apoptotic signaling pathw ay	IDA	biological_process
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0097191	extrinsic apoptotic signa ling pathway	IDA	biological_process
GO:0097296	activation of cysteine-ty pe endopeptidase activity involved in apoptotic si gnaling pathway	TAS	biological_process
GO:0097527	necroptotic signaling pat hway	IDA	biological_process
GO:1902041	regulation of extrinsic a poptotic signaling pathwa y via death domain recept ors	TAS	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	TAS	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	TAS	biological_process
GO:2000353	positive regulation of en dothelial cell apoptotic process	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0005102	receptor binding	TAS	molecular_function
GO:0005123	death receptor binding	IEA	molecular_function
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005164	tumor necrosis factor rec eptor binding	IEA	molecular_function
GO:0005164	tumor necrosis factor rec eptor binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005764	lysosome	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0005901	caveola	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IMP	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IGI	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	TAS	biological_process
GO:0006925	inflammatory cell apoptot ic process	IEA	biological_process
GO:0006955	immune response	IEA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0008625	extrinsic apoptotic signa ling pathway via death do main receptors	IEA	biological_process
GO:0008625	extrinsic apoptotic signa ling pathway via death do main receptors	IDA	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0009986	cell surface	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016525	negative regulation of an giogenesis	IDA	biological_process
GO:0030644	cellular chloride ion hom eostasis	IEA	biological_process
GO:0031410	cytoplasmic vesicle	IEA	cellular_component
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEP	biological_process
GO:0043202	lysosomal lumen	IEA	cellular_component
GO:0043525	positive regulation of ne uron apoptotic process	IEA	biological_process
GO:0045121	membrane raft	IEA	cellular_component
GO:0045742	positive regulation of ep idermal growth factor rec eptor signaling pathway	IEA	biological_process
GO:0046666	retinal cell programmed c ell death	IEA	biological_process
GO:0048388	endosomal lumen acidifica tion	IEA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0060205	cytoplasmic vesicle lumen	IEA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070231	T cell apoptotic process	IDA	biological_process
GO:0070266	necroptotic process	IDA	biological_process
GO:0070848	response to growth factor	IEA	biological_process
GO:0097190	apoptotic signaling pathw ay	IEA	biological_process
GO:0097190	apoptotic signaling pathw ay	IDA	biological_process
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0097191	extrinsic apoptotic signa ling pathway	IDA	biological_process
GO:0097296	activation of cysteine-ty pe endopeptidase activity involved in apoptotic si gnaling pathway	TAS	biological_process
GO:0097527	necroptotic signaling pat hway	IDA	biological_process
GO:1902041	regulation of extrinsic a poptotic signaling pathwa y via death domain recept ors	TAS	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	TAS	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	TAS	biological_process
GO:2000353	positive regulation of en dothelial cell apoptotic process	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0005102	receptor binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006915	apoptotic process	TAS	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IMP	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IGI	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0008625	extrinsic apoptotic signa ling pathway via death do main receptors	IDA	biological_process
GO:0016525	negative regulation of an giogenesis	IDA	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEP	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070231	T cell apoptotic process	IDA	biological_process
GO:0070266	necroptotic process	IDA	biological_process
GO:0097190	apoptotic signaling pathw ay	IDA	biological_process
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0097191	extrinsic apoptotic signa ling pathway	IDA	biological_process
GO:0097296	activation of cysteine-ty pe endopeptidase activity involved in apoptotic si gnaling pathway	TAS	biological_process
GO:0097527	necroptotic signaling pat hway	IDA	biological_process
GO:1902041	regulation of extrinsic a poptotic signaling pathwa y via death domain recept ors	TAS	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	TAS	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	TAS	biological_process
GO:2000353	positive regulation of en dothelial cell apoptotic process	IDA	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa05205  Proteoglycans in cancer
hsa04010  MAPK signaling pathway
hsa04014  Ras signaling pathway
hsa05168  Herpes simplex infection
hsa05161  Hepatitis B
hsa05164  Influenza A
hsa04068  FoxO signaling pathway
hsa04210  Apoptosis
hsa05142  Chagas disease
hsa05162  Measles
hsa04932  Non-alcoholic fatty liver disease
hsa04650  Natural killer cell mediated cytotoxicity
hsa04722  Neurotrophin signaling pathway
hsa04217  Necroptosis
hsa01524  Platinum drug resistance
hsa05332  Graft-versus-host disease
hsa05320  Autoimmune thyroid disease
hsa05330  Allograft rejection
hsa04940  Type I diabetes mellitus
hsa05143  African trypanosomiasis

Diseases

Associated diseases	References
Abnormal seminal plasma	PMID: 23422491
Abnormal sperm	PMID: 15979995
Alzheimer's disease	PMID: 14739535
Autoimmune lymphoproliferative syndromes	KEGG: H00108, OMIM: 134638
Azoospermia	PMID: 17491259
Celiac disease	PMID: 20190752
Crohn's disease	PMID: 16181301
Diabetes	PMID: 16691186
Endometrial cancer	PMID: 12586588
Endometriosis	PMID: 12372468
Graves disease	PMID: 12559631
Hypospermatogenesis	PMID: 17123522
Idiopathic azoospermia	PMID: 24665877
Lung cancer	OMIM: 134638
Male infertility	PMID: 23422491
Multiple sclerosis	PMID: 11438180
Periodontitis	PMID: 16512757
Polycystic ovary syndrome (PCOS)	PMID: 10966981
Preeclampsia	PMID: 21501125
Endometriosis associated infertility	INFBASE15104227
Female infertility	INFBASE12372468
Endometriosis	INFBASE12372468
Sjogren's syndrome	PMID: 11036836
Systemic lupus erythematosus	PMID: 10643709
Thrombocytopenia	PMID: 16163374
Varicocele	PMID: 14634417

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
12372468	Endometrio sis			86 (29 fertile women without e ndometriosis, 5 7 infertile wom en with endomet riosis (32 with stage I or II disease and 25 with stage III or IV disease))	Female infertility		Show abstract
15104227	Endometrio sis			50 (20 infertil e patients with endometriosis, 14 infertile p atients due to chronic pelvic infectious dise ase , 16 fertil e controls)	Female infertility	FasL	Show abstract