Aliases for TAPBP Gene
External Ids for TAPBP Gene
Previous GeneCards Identifiers for TAPBP Gene
This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for TAPBP Gene
TAPBP (TAP Binding Protein (Tapasin)) is a Protein Coding gene. Diseases associated with TAPBP include Bare Lymphocyte Syndrome, Type I and Immunodeficiency By Defective Expression Of Hla Class 1. Among its related pathways are Antigen Presentation- Folding, assembly and peptide loading of class I MHC and Antigen processing- Ubiquitination and Proteasome degradation. GO annotations related to this gene include unfolded protein binding and MHC class I protein binding. An important paralog of this gene is TAPBPL.
UniProtKB/Swiss-Prot for TAPBP Gene
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).