FAS Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | FAS |
| Official Name | Fas cell surface death receptor [Source:HGNC Symbol;Acc:HGNC:11920] |
| Ensembl ID | ENSG00000026103 |
| Bio databases IDs | |
| Aliases | Fas cell surface death receptor, TNF receptor superfamily member 6 |
| Synonyms | ALPS1A, APO-1, APT1, CD95, CD95L, CD95 receptor, FAS1, FAS/APO1, Fas cell surface death receptor, FasR, FASTM, lpr, Receptor for Fas Ligand, Receptors for Fas Ligand, TNFR6, Tnf receptor member 6, TNFRSF6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FAS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Death domain
- cytotoxicity domain
- identical protein binding
- cytoplasmic domain
- ligand-binding domain
- intracellular domain
- transmembrane receptor
- cysteine rich domain
- extracellular domain
- signaling receptor activity
- calmodulin binding
- protease binding
- protein phosphatase binding
- ectodomain
- TNFR/NGFR cysteine-rich region
- protein binding
- Fc domain
- Tumor necrosis factor receptor superfamily (TNFRSF)
- ezrin binding domain
- pre-ligand assembly domain
- binding protein
- kinase binding
- FADD binding domain
- tumor necrosis factor receptor
- transmembrane domain
- cytosolic tail domain
- PDZ binding motif
- Death Domain Superfamily of protein-protein interaction domains
- death domain binding domain
Pathways
Biological processes and signaling networks where the FAS gene in human plays a role, providing insight into its function and relevance in health or disease.
- Allograft Rejection Signaling
- Apelin Liver Signaling Pathway
- Apoptosis Signaling
- Aryl Hydrocarbon Receptor Signaling
- Autoimmune Thyroid Disease Signaling
- CCR5 Signaling in Macrophages
- Cellular Effects of Sildenafil (Viagra)
- Crosstalk between Dendritic Cells and Natural Killer Cells
- Cytotoxic T Lymphocyte-mediated Apoptosis of Target Cells
- Death Receptor Signaling
- Graft-versus-Host Disease Signaling
- Hepatic Fibrosis / Hepatic Stellate Cell Activation
- IL-4 Signaling
- Induction of Apoptosis by HIV1
- Molecular Mechanisms of Cancer
- Myc Mediated Apoptosis Signaling
- p38 MAPK Signaling
- p53 Signaling
- PEDF Signaling
- Role of PKR in Interferon Induction and Antiviral Response
- Tec Kinase Signaling
- Tumoricidal Function of Hepatic Natural Killer Cells
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- anemia
- diabetes mellitus
- non-small cell lung carcinoma
- septic shock
- sepsis
- neoplasia
- plasma cell myeloma
- experimental autoimmune encephalomyelitis
- liver cancer
- epithelial cancer
role in cell
- expression in
- activation
- inhibition in
- migration
- cell death
- activation in
- molecular cleavage in
- proliferation
- binding in
- apoptosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- raft fractions
- soluble fraction
- Golgi-enriched fraction
- membrane fraction
- insoluble fractions
- Cytoplasm
- cell surface
- Extracellular Space
- intracellular space
- perinuclear region
- membrane surface
- cellular membrane
- cytosol
- sarcoplasm
- basolateral cell surfaces
- plasma membrane extracellular face
- apical membrane
- nuclear bodies
- neurites
- sarcolemma
- anchoring junction
- secretory granules
- membrane rafts
- membrane processes
- perikaryon
- axons
- cell-cell adherens junctions
- plasma
- apical processes
- cytoskeletal fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FAS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- macromolecular complex assembly
- signal transduction
- cellular response to amino acid starvation
- extrinsic apoptotic signaling pathway
- regulation of apoptotic process
- extrinsic apoptotic signaling pathway in absence of ligand
- activation-induced cell death of T cells
- cellular response to mechanical stimulus
- tumor necrosis factor-mediated signaling pathway
- immune response
- motor neuron apoptotic process
- negative regulation of apoptotic process
- positive regulation of apoptotic process
- positive regulation of protein phosphorylation
- apoptotic process
- regulation of stress-activated MAPK cascade
- positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway
- cellular response to hyperoxia
- positive regulation of apoptotic signaling pathway
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- nuclear body
- membrane raft
- external side of plasma membrane
- cytosol
- death-inducing signaling complex
- CD95 death-inducing signaling complex
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- calmodulin binding
- identical protein binding
- protein binding
- tumor necrosis factor-activated receptor activity
- signaling receptor activity
- kinase binding