TAPBP Chromosome 6
TAP binding protein
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What This Gene Does
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]
Gene Info
Gene Group
C1-set domain containing
Locus Type
gene with protein product
Location
6p21.32
Ensembl
ENSG00000231925
Associated Conditions (3)
MHC class I deficiency
Malignant tumor of urinary bladder
MHC class I deficiency 1
Key Variants
RS142455342
Conflicting classifications of pathogenicity
MHC class I deficiency, MHC class I deficiency
Health Risk
RS200497341
Conflicting classifications of pathogenicity
MHC class I deficiency, MHC class I deficiency
Health Risk
RS747417254
Conflicting classifications of pathogenicity
MHC class I deficiency, MHC class I deficiency
Health Risk
RS767195857
Conflicting classifications of pathogenicity
MHC class I deficiency, Malignant tumor of urinary bladder, MHC class I deficiency
Health Risk
RS771157811
Conflicting classifications of pathogenicity
MHC class I deficiency, MHC class I deficiency 1, MHC class I deficiency
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142455342 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, MHC class I deficiency |
| RS200497341 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, MHC class I deficiency |
| RS747417254 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, MHC class I deficiency |
| RS767195857 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, Malignant tumor of urinary bladder, MHC class I deficiency |
| RS771157811 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, MHC class I deficiency 1, MHC class I deficiency |