FCHO1
Function
Functions in an early step of clathrin-mediated endocytosis (PubMed:30822429). Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. May regulate Bmp signaling by regulating clathrin-mediated endocytosis of Bmp receptors. Involved in the regulation of T-cell poliferation and activation (PubMed:30822429, PubMed:32098969). Affects TCR clustering upon receptor triggering and modulates its internalisation, playing a role in TCR-dependent T-cell activation (PubMed:32098969).
Involvement in disease
Immunodeficiency 76
IMD76
An autosomal recessive immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Affected individuals have T-cell lymphopenia and variable B-cell or immunoglobulin abnormalities. Some patients develop B-cell lymphoma, others manifest neurologic features.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the FCHO family.
Tissue Specificity
Predominantly expressed in lymphoid cells.
Cellular localization
- Membrane
- Clathrin-coated pit
- Peripheral membrane protein
- Cytoplasmic side
- Associated with forming but not mature clathrin-coated vesicles. The recruitment to coated-pits precede the one of clathrin and the adaptor protein complex AP-2. According to PubMed:17617719 it may also dynamically associate with Golgi/TGN membranes.
Alternative names
KIAA0290, FCHO1, F-BAR domain only protein 1