TAPBPL
TAP Binding Protein Like: A modulator of MHC class I antigen presentation
Gene Information Card
| Symbol | TAPBPL |
|---|---|
| Full Name | TAP binding protein like |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 55080 ncbi.nlm.nih.gov/gene/55080 |
| Ensembl ID | ENSG00000139192 |
| UniProt ID | Q9BX59 |
| OMIM ID | 612511 |
| HGNC ID | 30047 |
| Aliases | TAPBP-R, TAPBP-related, TAPBPR |
Description
TAPBPL (TAP binding protein like) encodes a glycoprotein that functions as a chaperone in the MHC class I antigen presentation pathway. It binds to peptide-receptive MHC class I molecules and modulates peptide selection, influencing the quality and quantity of antigens presented to T cells. TAPBPL is structurally related to tapasin but has distinct functions, including peptide editing and regulation of MHC class I cell surface expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | TAPBPL downregulation may impair MHC class I presentation, facilitating immune evasion. | PMID: 25636840 |
| Autoimmune diseases | Altered TAPBPL expression could affect self-antigen presentation and immune tolerance. | PMID: 29127205 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Lung | 6.1 | Low |
| Small intestine | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cells |
| HeLa | 12.1 | Cervical cancer cells |
| K562 | 9.8 | Leukemia cells |
| HepG2 | 7.4 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown functional impact |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • MHC class I protein complex binding | • peptide antigen binding |
| • protein folding chaperone | • ER to Golgi vesicle-mediated transport |
| • antigen processing and presentation of peptide antigen via MHC class I |
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• MHC class I antigen presentation (Reactome R-HSA-983170)
Protein Summary
TAPBPL is a 468-amino acid type I transmembrane protein localized to the endoplasmic reticulum. It contains an N-terminal signal peptide, a luminal domain with an immunoglobulin-like fold, a transmembrane region, and a short cytoplasmic tail. The luminal domain mediates binding to MHC class I molecules, facilitating peptide editing and quality control. TAPBPL does not bind TAP directly but interacts with MHC I independently, distinguishing it from tapasin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAPBPL Knockout HEK293 Cell Line | EDJ-KQ15611 | Human | 55080 | Details Get a Quote |
| TAPBPL Knockout A-549 Cell Line | EDJ-KQ46504 | Human | 55080 | Details Get a Quote |
| TAPBPL Knockout HeLa Cell Line | EDJ-KQ46505 | Human | 55080 | Details Get a Quote |
| TAPBPL Knockout HCT 116 Cell Line | EDJ-KQ73470 | Human | 55080 | Details Get a Quote |
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