Autoimmune lymphoproliferative syndrome, type Ia

Gene Information




  • APO-1
  • APT1
  • CD95
  • FAS
  • FAS1
  • apoptosis (APO-1) antigen 1
  • tumor necrosis factor receptor superfamily, member 6
  • Tumor necrosis factor receptor superfamily member 6 precursor
  • FASL receptor
  • Apoptosis-mediating surface antigen FAS
  • Apo-1 antigen


Reference sequences

Chromosomal location


Protein Information


Protein function:

Receptor for TNFSF6. The adaptor molecule FADD recruits Caspase-8 to the activated receptor. The resulting death-inducing signaling complex 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).

Subcellular location:

Type I membrane protein (isoform 1); secreted (isoforms 2 to 6).

Alternative products:

6 isoforms: 1, 2/del2/d, 3/del3/e, 4/b, 5/c and 6/tmdel/a are produced by alternative splicing.

Structures (PDB)

1DDF Fas Death Domain, NMR, Minimized Average Structure


Extracellular domain: 17-173

    Cytoplasmic domain: 191-335

      Death domain: 230-314

        Other features

        Signal peptide: 1-16

          Tumor necrosis factor receptor superfamily member 6: 17-335

            Disulfide bond: 59-73

              Disulfide bond: 63-82

                Disulfide bond: 85-101

                  Disulfide bond: 104-119

                    Disulfide bond: 107-127

                      Disulfide bond: 129-143

                        Disulfide bond: 146-157

                          Disulfide bond: 149-165

                            Other related resourses:


                            Expression pattern for human

                            Tissue Expression (%) Clones
                            lung, cell line 17.87 1:876
                            blood, white cells 17.20 1:910
                            eye, retina 17.11 11:10065
                            fibrosarcoma 8.38 1:1867
                            leukocyte 5.23 3:8982
                            leukopheresis 3.43 1:4557
                            human skeletal muscle 2.91 2:10746
                            human lung epithelial cell lines untreated lps 6hr to lps 2.49 1:6278
                            kidney, pooled 2.11 1:7404
                            CNS, multiple sclerosis lesions 2.00 1:7823

                            Animal models