Tumor necrosis factor receptor-associated periodic syndrome

Gene Information

Names

HUGO name: TNFRSF1A

Alias(es):

  • CD120a
  • FPF
  • MGC19588
  • TBP1
  • TNF-R
  • TNF-R-I
  • TNF-R55
  • TNFAR
  • TNFR1
  • TNFR55
  • TNFR60
  • P55
  • P55-R
  • P60
  • Tumor necrosis factor receptor 1 (55kD)
  • Tumor necrosis factor receptor superfamily, member 1A
  • Tumor necrosis factor receptor superfamily member 1A precursor (p60)

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Receptor for TNFSF2/TNF-alpha and homotrimeric TNFSF1/lymphotoxin-alpha. 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. Contributes to the induction of noncytocidal TNF effects including anti-viral state and activation of the acid sphingomyelinase.

Subunit:

Binding of TNF to the extracellular domain leads to homotrimerization. The aggregated death domains provide a novel molecular interface that interacts specifically with the death domain of tradd. Various tradd-interacting proteins such as trafs, rip and possibly fadd, are recruited to the complex by their association with tradd. This complex activates at least two distinct signaling cascades, apoptosis and NF-kappa-b signaling. Binds bag4. Constitutively associated with trpc4ap. Interacts with hcv core protein.

Subcellular location:

Type I membrane protein and secreted.

Post-translational modification:

The soluble form is produced from the membrane form by proteolytic processing.

Similarity:

Contains 1 death domain.

Structures (PDB)

1EXT Extracellular Domain Of The 55Kda Tumor Necrosis Factor Receptor. Crystallized At pH3.7 In P 21 21 21.
1FT4 Photochemically-Enhanced Binding Of Small Molecules To The Tumor Necrosis Factor Receptor-1
1ICH Solution Structure Of The Tumor Necrosis Factor Receptor-1 Death Domain
1NCF Crystallographic evidence for dimerization of unliganded tumor necrosis factor receptor.
1TNR Crystal structure of the soluble human 55 kd TNF receptor-human TNF complex: implications for TNF receptor activation.

Domains

Death domain: 356-441

    Other features

    Signal peptide: 1-21

      Tumor necrosis factor receptor superfamily member 1a, membrane form: 22-455

        Tumor necrosis factor binding protein 1: 41-291

          Disulfide bond: 44-58

            Disulfide bond: 59-72

              Disulfide bond: 62-81

                Disulfide bond: 84-99

                  Disulfide bond: 102-117

                    Disulfide bond: 105-125

                      Disulfide bond: 127-143

                        Disulfide bond: 146-158

                          Disulfide bond: 149-166

                            Disulfide bond: 168-179

                              Disulfide bond: 182-195

                                Disulfide bond: 185-191

                                  N-linked (glcnac...) glycosylation sites: 54,145,151

                                    Other related resourses:

                                    Expression

                                    Expression pattern for human

                                    Tissue Expression (%) Clones
                                    colon mucosa 13.98 2:1345
                                    coronary artery 7.97 10:11801
                                    neuroblastoma 7.80 1:1205
                                    amygdala 6.31 2:2979
                                    corpus callosum 5.91 2:3185
                                    embryonic stem 4.33 3:6512
                                    caudate nucleus 3.69 1:2548
                                    small intestine 3.42 2:5498
                                    thymus 3.39 2:5542
                                    embryonal kidney 3.14 1:2996