TAP1
Transporter Associated with Antigen Processing 1
Gene Information Card
| Symbol | TAP1 |
|---|---|
| Full Name | Transporter Associated with Antigen Processing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 6890 ncbi.nlm.nih.gov/gene/6890 |
| Ensembl ID | ENSG00000168394 |
| UniProt ID | Q03518 |
| OMIM ID | 170260 |
| HGNC ID | 11553 |
| Aliases | ABCB2, APT1, PSF1, RING4, TAP1N |
Description
TAP1 (Transporter Associated with Antigen Processing 1) encodes a member of the ATP-binding cassette (ABC) transporter superfamily. It forms a heterodimer with TAP2 to transport peptides from the cytosol into the endoplasmic reticulum for loading onto MHC class I molecules. This process is essential for antigen presentation to cytotoxic T lymphocytes and immune surveillance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bare Lymphocyte Syndrome Type I | Loss of TAP1 function impairs peptide loading onto MHC class I, leading to reduced cell surface expression of MHC I and defective CD8+ T cell response. | OMIM #604571 |
| Ankylosing spondylitis | Polymorphisms in TAP1 are associated with altered antigen presentation and increased risk. | NCBI Gene |
| Autoimmune diseases (e.g., type 1 diabetes) | TAP1 variants may influence peptide repertoire and immune tolerance. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 11.8 | Medium |
| Lung | 8.2 | Medium |
| Small intestine | 7.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| K562 | 10.5 | Leukemia cell line |
| HepG2 | 6.8 | Hepatocellular carcinoma cell line |
| A549 | 9.1 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1643-1G>C | Splice acceptor | Rare | Loss of function; associated with bare lymphocyte syndrome |
| p.Arg659* | Nonsense | Rare | Premature stop; loss of function |
| p.Val349Ile | Missense | 0.01% (gnomAD) | Reduced peptide transport activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that abolish TAP1 expression or peptide transport, leading to bare lymphocyte syndrome type I.
Gain of Function (GOF)
Not reported for TAP1.
Dominant Negative (DN)
Not reported for TAP1.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • peptide antigen-transporting ATPase activity |
| • transmembrane transport | • MHC class I peptide loading complex |
| • endoplasmic reticulum membrane | • immune response |
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• MHC class I antigen presentation (Reactome R-HSA-983170)
Protein Summary
TAP1 is a 748-amino acid ABC transporter with a transmembrane domain and a nucleotide-binding domain. It heterodimerizes with TAP2 to form a functional peptide transporter in the ER membrane. The complex translocates peptides of 8-16 residues, which are then loaded onto MHC class I molecules. TAP1 deficiency severely impairs adaptive immunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LTAP1 Knockout HEK293 Cell Line | EDJ-KQ3873 | Human | 25912 | Details Get a Quote |
| TAP1 Knockout HEK293 Cell Line | EDJ-KQ5886 | Human | 6890 | Details Get a Quote |
| STAP1 Knockout HEK293 Cell Line | EDJ-KQ8467 | Human | 26228 | Details Get a Quote |
| KRTAP13-1 Knockout HEK293 Cell Line | EDJ-KQ9736 | Human | 140258 | Details Get a Quote |
| KRTAP1-3 Knockout HEK293 Cell Line | EDJ-KQ9774 | Human | 81850 | Details Get a Quote |
| KRTAP1-5 Knockout HEK293 Cell Line | EDJ-KQ9927 | Human | 83895 | Details Get a Quote |
| KRTAP17-1 Knockout HEK293 Cell Line | EDJ-KQ9931 | Human | 83902 | Details Get a Quote |
| KRTAP12-4 Knockout HEK293 Cell Line | EDJ-KQ11369 | Human | 386684 | Details Get a Quote |
| KRTAP1-4 Knockout HEK293 Cell Line | EDJ-KQ11379 | Human | 728255 | Details Get a Quote |
| METAP1D Knockout HEK293 Cell Line | EDJ-KQ11752 | Human | 254042 | Details Get a Quote |
| KRTAP15-1 Knockout HEK293 Cell Line | EDJ-KQ11781 | Human | 254950 | Details Get a Quote |
| KRTAP12-2 Knockout HEK293 Cell Line | EDJ-KQ12006 | Human | 353323 | Details Get a Quote |
| KRTAP19-6 Knockout HEK293 Cell Line | EDJ-KQ12059 | Human | 337973 | Details Get a Quote |
| KRTAP19-4 Knockout HEK293 Cell Line | EDJ-KQ12063 | Human | 337971 | Details Get a Quote |
| KRTAP10-11 Knockout HEK293 Cell Line | EDJ-KQ12073 | Human | 386678 | Details Get a Quote |
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