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Aliases for FAS Gene

Aliases for FAS Gene

  • Fas Cell Surface Death Receptor 2 3
  • TNFRSF6 3 4 6
  • APT1 3 4 6
  • Tumor Necrosis Factor Receptor Superfamily, Member 6 2 3
  • Fas (TNF Receptor Superfamily, Member 6) 2 3
  • Apoptosis-Mediating Surface Antigen FAS 3 4
  • TNF Receptor Superfamily Member 6 2 3
  • FASLG Receptor 3 4
  • CD95 Antigen 3 4
  • ALPS1A 3 6
  • FAS1 3 4
  • CD95 3 6
  • Tumor Necrosis Factor Receptor Superfamily Member 6 3
  • APO-1 Cell Surface Antigen 3
  • FAS Receptor Variant 9 3
  • Delta Fas/APO-1/CD95 3
  • Apoptosis Antigen 1 3
  • Apo-1 Antigen 4
  • FAS 827dupA 3
  • Fas AMA 3
  • APO-1 3
  • FASTM 3

External Ids for FAS Gene

Previous Symbols for FAS Gene

  • FAS1
  • APT1
  • TNFRSF6

Summaries for FAS Gene

Entrez Gene Summary for FAS Gene

  • The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]

GeneCards Summary for FAS Gene

FAS (Fas Cell Surface Death Receptor) is a Protein Coding gene. Diseases associated with FAS include burn scar and autoimmune lymphoproliferative syndrome. Among its related pathways are MAPK signaling pathway and Proteoglycans in cancer. GO annotations related to this gene include identical protein binding and receptor activity.

UniProtKB/Swiss-Prot for FAS Gene

  • Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).

Gene Wiki entry for FAS Gene

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

Genomics for FAS Gene

Genomic Location for FAS Gene

Start:
88,969,796 bp from pter
End:
89,017,059 bp from pter
Size:
47,264 bases
Orientation:
Plus strand

Genomic View for FAS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAS Gene

Regulatory Elements for FAS Gene

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

Proteins for FAS Gene

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

    Protein Symbol:
    P25445-TNR6_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 6
    Protein Accession:
    P25445
    Secondary Accessions:
    • A9UJX4
    • B6VNV4
    • Q14292
    • Q14293
    • Q14294
    • Q14295
    • Q16652
    • Q5T9P1
    • Q5T9P2
    • Q5T9P3
    • Q6SSE9

    Protein attributes for FAS Gene

    Size:
    335 amino acids
    Molecular mass:
    37732 Da
    Quaternary structure:
    • Binds DAXX. Interacts with HIPK3. Part of a complex containing HIPK3 and FADD (By similarity). Binds RIPK1 and FAIM2. Interacts with BRE and FEM1B. Interacts with FADD. Interacts directly (via DED domain) with NOL3 (via CARD domain); inhibits death-inducing signaling complex (DISC) assembly by inhibiting the increase in FAS-FADD binding induced by FAS activation (By similarity).

    Three dimensional structures from OCA and Proteopedia for FAS Gene

    Alternative splice isoforms for FAS Gene

neXtProt entry for FAS Gene

Proteomics data for FAS Gene at MOPED

Post-translational modifications for FAS Gene

  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Thr28, Thr40, Thr42, Thr43, Thr46, Asn118, and Asn136

No data available for DME Specific Peptides for FAS Gene

Domains for FAS Gene

Gene Families for FAS Gene

HGNC:
  • CD :CD molecules
  • TNFRSF :Tumor necrosis factor receptor superfamily
IUPHAR :

UniProtKB/Swiss-Prot:

TNR6_HUMAN
Domain:
  • Contains a death domain involved in the binding of FADD, and maybe to other cytosolic adapter proteins:
    • P25445
  • Contains 1 death domain.:
    • P25445
Similarity:
  • Contains 3 TNFR-Cys repeats.:
    • P25445
genes like me logo Genes that share domains with FAS: view

Function for FAS Gene

Molecular function for FAS Gene

UniProtKB/Swiss-Prot Function: Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).

Gene Ontology (GO) - Molecular Function for FAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity TAS 10875918
GO:0004872 receptor activity NAS 7533181
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005515 protein binding IPI 10918185
GO:0019900 kinase binding IPI 7538908
genes like me logo Genes that share ontologies with FAS: view
genes like me logo Genes that share phenotypes with FAS: view

Animal Models for FAS Gene

MGI Knock Outs for FAS:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FAS Gene

Localization for FAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAS Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.
Isoform 3: Secreted.
Isoform 4: Secreted.
Isoform 5: Secreted.
Isoform 6: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAS Gene COMPARTMENTS Subcellular localization image for FAS gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 5
nucleus 4
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol NAS 7533181
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with FAS: view

Pathways for FAS Gene

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

Gene Ontology (GO) - Biological Process for FAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002377 immunoglobulin production IEA --
GO:0003014 renal system process IEA --
GO:0006461 protein complex assembly TAS 10875918
GO:0006915 apoptotic process TAS --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS --
genes like me logo Genes that share ontologies with FAS: view

Compounds for FAS Gene

(1) IUPHAR Ligand for FAS Gene

Ligand Type Action Affinity Pubmed IDs
Fas ligand None None

(143) Novoseek inferred chemical compound relationships for FAS Gene

Compound -log(P) Hits PubMed IDs
cerulenin 68.3 26
dutp 67.6 13
concanamycin a 63.9 1
safrole oxide 62.5 6
ceramide 62.4 68
genes like me logo Genes that share compounds with FAS: view

Transcripts for FAS Gene

Unigene Clusters for FAS Gene

Fas (TNF receptor superfamily, member 6):
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - -
SP4: - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - - - - - - - - -
SP9: - - - -
SP10:
SP11: - -
SP12: - - -

Relevant External Links for FAS Gene

GeneLoc Exon Structure for
FAS
ECgene alternative splicing isoforms for
FAS

Expression for FAS Gene

mRNA expression in normal human tissues for FAS Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAS Gene

SOURCE GeneReport for Unigene cluster for FAS Gene Hs.244139

mRNA Expression by UniProt/SwissProt for FAS Gene

P25445-TNR6_HUMAN
Tissue specificity: Isoform 1 and isoform 6 are expressed at equal levels in resting peripheral blood mononuclear cells. After activation there is an increase in isoform 1 and decrease in the levels of isoform 6.
genes like me logo Genes that share expressions with FAS: view

Orthologs for FAS Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAS 36
  • 99.1 (n)
  • 98.51 (a)
FAS 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAS 36
  • 71.21 (n)
  • 58.82 (a)
FAS 37
  • 56 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAS 36
  • 65.18 (n)
  • 54.63 (a)
FAS 37
  • 52 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fas 36
  • 64.72 (n)
  • 49.69 (a)
Fas 16
Fas 37
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAS 37
  • 41 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fas 36
  • 63.35 (n)
  • 50.62 (a)
chicken
(Gallus gallus)
Aves FAS 36
  • 50.06 (n)
  • 37.21 (a)
FAS 37
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAS 37
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fas 36
  • 46.58 (n)
  • 35.69 (a)
zebrafish
(Danio rerio)
Actinopterygii fas 36
  • 46.58 (n)
  • 30.13 (a)
fas 37
  • 24 (a)
OneToOne
Species with no ortholog for FAS:
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 FAS Gene

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

Paralogs for FAS Gene

Selected SIMAP similar genes for FAS Gene using alignment to 8 proteins:

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

No data available for Paralogs for FAS Gene

Variants for FAS Gene

Sequence variations from dbSNP and Humsavar for FAS Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs982764 -- 89,010,241(-) AACCT(A/G)GTAAT intron-variant
rs1051070 -- 89,015,015(+) CAAAG(A/T)CCTTT utr-variant-3-prime, nc-transcript-variant
rs1159120 -- 88,999,935(+) CTTAC(C/T)AGTTT intron-variant
rs1468063 -- 89,015,534(-) ACTTG(A/G)GGGTA utr-variant-3-prime, nc-transcript-variant
rs1571011 -- 88,998,030(+) ATGTA(A/C)CACTA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831943 CNV Gain 17160897

Relevant External Links for FAS Gene

HapMap Linkage Disequilibrium report
FAS
Human Gene Mutation Database (HGMD)
FAS
Locus Specific Mutation Databases (LSDB)
FAS

Disorders for FAS Gene

(1) OMIM Diseases for FAS Gene (134637)

UniProtKB/Swiss-Prot

TNR6_HUMAN
  • Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia. {ECO:0000269 PubMed:10090885, ECO:0000269 PubMed:10340403, ECO:0000269 PubMed:10515860, ECO:0000269 PubMed:11418480, ECO:0000269 PubMed:17336828, ECO:0000269 PubMed:7540117, ECO:0000269 PubMed:8929361, ECO:0000269 PubMed:9028321, ECO:0000269 PubMed:9028957, ECO:0000269 PubMed:9322534, ECO:0000269 PubMed:9821419, ECO:0000269 PubMed:9927496}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for FAS Gene

(93) Novoseek inferred disease relationships for FAS Gene

Disease -log(P) Hits PubMed IDs
autoimmune lymphoproliferative syndrome 90.8 79
necrosis 80.5 160
tumors 76.7 323
dianzani autoimmune lymphoproliferative disease 69 1
autoimmune diseases 63.4 66

Relevant External Links for FAS

GeneTests
FAS
GeneReviews
FAS
Genetic Association Database (GAD)
FAS
Human Genome Epidemiology (HuGE) Navigator
FAS
genes like me logo Genes that share disorders with FAS: view

Publications for FAS Gene

  1. Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity. (PMID: 9787134) Groenbaek K. … Guldberg P. (Blood 1998) 3 4 23 49
  2. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. (PMID: 11418480) Straus S.E. … Lenardo M.J. (Blood 2001) 3 4 23 49
  3. Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. (PMID: 10090885) Jackson C.E. … Puck J.M. (Am. J. Hum. Genet. 1999) 3 4 23
  4. Fas promoter -670 polymorphism is associated with development of anti-RNP antibodies in systemic lupus erythematosus. (PMID: 11550967) Lee Y.H. … Song G.G. (J. Rheumatol. 2001) 3 23 49
  5. Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease. (PMID: 11436125) Prince J.A. … Brookes A.J. (Eur. J. Hum. Genet. 2001) 3 23 49

Products for FAS Gene

Sources for FAS Gene

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