TAPBP
Domain
The N-terminus is required for efficient association with MHC class I molecule and for a stable interaction between MHC I and calreticulin. Binding to TAP is mediated by the C-terminal region.
Function
Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and in the assembly of MHC class I with peptide (peptide loading).
Involvement in disease
MHC class I deficiency 3
MHC1D3
An autosomal recessive disorder characterized by glomerulonephritis and markedly reduced cell surface expression of class I HLA antigens. Additional features are herpes zoster infection and polyps of the stomach and colon.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Neutrophils, mostly in fully differentiated cells.
Cellular localization
- Endoplasmic reticulum membrane
- Single-pass type I membrane protein
Alternative names
NGS17, TAPA, TAPBP, Tapasin, TPN, TPSN, NGS-17, TAP-associated protein, TAP-binding protein