TAPBP gene

TAP binding protein

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

From NCBI Gene:

  • Bare lymphocyte syndrome type 1

From UniProt:

Bare lymphocyte syndrome 1 (BLS1): A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract. [MIM:604571]

Cytogenetic Location: 6p21.32, which is the short (p) arm of chromosome 6 at position 21.32

Molecular Location: base pairs 33,299,694 to 33,314,387 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p21.32, which is the short (p) arm of chromosome 6 at position 21.32
  • NGS17
  • TAPA
  • TPN
  • TPSN