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Aliases for FAS Gene

Aliases for FAS Gene

  • Fas Cell Surface Death Receptor 2 3 5
  • 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
  • TNFRSF6 3 4
  • APT1 3 4
  • FAS1 3 4
  • APO-1 Cell Surface Antigen 3
  • Apoptosis Antigen 1 3
  • Apo-1 Antigen 4
  • Fas AMA 3
  • ALPS1A 3
  • APO-1 3
  • FASTM 3
  • CD95 3

External Ids for FAS Gene

Previous HGNC Symbols for FAS Gene

  • FAS1
  • APT1
  • TNFRSF6

Previous GeneCards Identifiers for FAS Gene

  • GC10P090741
  • GC10P084384

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 autoimmune lymphoproliferative syndrome and fas-related autoimmune lymphoproliferative syndrome. Among its related pathways are Gene Expression and Signaling by GPCR. 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

Regulatory Elements for FAS Gene

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

Genomic Location for FAS Gene

Chromosome:
10
Start:
88,969,801 bp from pter
End:
89,017,059 bp from pter
Size:
47,259 bases
Orientation:
Plus strand

Genomic View for FAS Gene

Genes around FAS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for FAS Gene

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.
  • Glycosylation at Thr 28, Thr 40, Thr 42, Thr 46, Asn 118, and Asn 136
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for FAS (Fas/TNFRSF6/CD95)
  • Cell Signaling Technology (CST) Antibodies for FAS (FAS)

Protein Products

No data available for DME Specific Peptides for FAS Gene

Domains & Families for FAS Gene

Graphical View of Domain Structure for InterPro Entry

P25445

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for FAS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAS Gene

MGI Knock Outs for FAS:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
nucleus 5
plasma membrane 5
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for FAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042383 sarcolemma IEA --
GO:0043025 neuronal cell body IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
GO:0097440 apical dendrite IEA --
genes like me logo Genes that share ontologies with FAS: view

Pathways & Interactions for FAS Gene

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

SIGNOR curated interactions for FAS Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001552 ovarian follicle atresia IEA --
GO:0001666 response to hypoxia IEA --
GO:0003014 renal system process IEA --
GO:0006461 protein complex assembly TAS 10875918
GO:0006915 apoptotic process IEA,IDA 9681877
genes like me logo Genes that share ontologies with FAS: view

Drugs & Compounds for FAS Gene

(78) Drugs for FAS Gene - From: Novoseek, ApexBio, ClinicalTrials, DGIdb, and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma 1839
Choline Approved Nutra 130
Fas ligand Pharma 0
Adrenergic Agents Pharma 4204
Antimetabolites Pharma 9454

(79) Additional Compounds for FAS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for FAS Gene

Compound Action Cas Number
Betulinic acid Anti-HIV and antitumor compound,pentacyclic triterpenoid 472-15-1
Fas C- Terminal Tripeptide AC-SER-LEU-VAL-OH 189109-90-8
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

Protein differential expression in normal tissues from HIPED for FAS Gene

This gene is overexpressed in Adrenal (30.1) and Bone (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with FAS: view

Protein tissue co-expression partners for FAS Gene

Primer Products

In Situ Assay Products

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

Orthologs for FAS Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FAS 35
  • 71.21 (n)
  • 58.82 (a)
FAS 36
  • 56 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAS 35
  • 65.18 (n)
  • 54.63 (a)
FAS 36
  • 52 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fas 35
  • 64.72 (n)
  • 49.69 (a)
Fas 16
Fas 36
  • 48 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAS 35
  • 99.1 (n)
  • 98.51 (a)
FAS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fas 35
  • 63.35 (n)
  • 50.62 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia FAS 36
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAS 35
  • 50.06 (n)
  • 37.21 (a)
FAS 36
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAS 36
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fas 35
  • 46.58 (n)
  • 35.69 (a)
zebrafish
(Danio rerio)
Actinopterygii fas 35
  • 46.58 (n)
  • 30.13 (a)
fas 36
  • 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

(2) 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
VAR_013416 Non-Hodgkin lymphoma
VAR_013417 Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
VAR_013418 Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
VAR_013419 Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
VAR_013420 Non-Hodgkin lymphoma

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

Variant ID Type Subtype PubMed ID
nsv831943 CNV Gain 17160897

Variation tolerance for FAS Gene

Residual Variation Intolerance Score: 69.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAS Gene

HapMap Linkage Disequilibrium report
FAS
Human Gene Mutation Database (HGMD)
FAS

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

Disorders for FAS Gene

MalaCards: The human disease database

(51) MalaCards diseases for FAS Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
autoimmune lymphoproliferative syndrome
  • coffin-siris syndrome
fas-related autoimmune lymphoproliferative syndrome
silicosis
  • pneumoconiosis due to silicates
dianzani autoimmune lymphoproliferative syndrome
  • autoimmune lymphoproliferative syndrome without fas mutations
burn scar
- elite association - COSMIC cancer census association via MalaCards
Search FAS in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for FAS

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

No data available for Genatlas for FAS Gene

Publications for FAS Gene

  1. 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 48 67
  2. Taiwan cobra phospholipase A2-elicited JNK activation is responsible for autocrine fas-mediated cell death and modulating Bcl-2 and Bax protein expression in human leukemia K562 cells. (PMID: 19937732) Chen K.C. … Chang L.S. (J. Cell. Biochem. 2010) 3 23
  3. Up-regulation of Fas reverses cisplatin resistance of human small cell lung cancer cells. (PMID: 20470393) Wu W. … He P. (J. Exp. Clin. Cancer Res. 2010) 3 23
  4. CD95 promotes tumour growth. (PMID: 20505730) Chen L. … Peter M.E. (Nature 2010) 3 23
  5. SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane. (PMID: 19009351) Watanabe K. … Dror Y. (Apoptosis 2009) 3 23

Products for FAS Gene

Sources for FAS Gene

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