FYB1
Function
Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells (By similarity). May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton (PubMed:10747096, PubMed:16980616). Modulates the expression of IL2 (By similarity). Involved in platelet activation (By similarity). Prevents the degradation of SKAP1 and SKAP2 (PubMed:15849195). May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells (By similarity).
Involvement in disease
Thrombocytopenia 3
THC3
A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC3 is an autosomal recessive form characterized by onset in infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
T-cell receptor ligation leads to increased tyrosine phosphorylation.
Tissue Specificity
Expressed in hematopoietic tissues such as myeloid and T-cells, spleen and thymus. Not expressed in B-cells, nor in non-lymphoid tissues.
Cellular localization
- Cytoplasm
- Nucleus
- Cell junction
- Colocalizes with TMEM47 at cell-cell contacts in podocytes.
Alternative names
FYB, SLAP130, FYB1, FYN-binding protein 1, Adhesion and degranulation promoting adaptor protein, FYB-120/130, FYN-T-binding protein, SLAP-130, SLP-76-associated phosphoprotein, ADAP, p120/p130