TASL: TLR Adaptor Interacting With SLC15A4 On The Lysosome
A key endolysosomal adaptor in TLR7/9 signaling and interferon regulation
Gene Information Card
| Symbol | TASL |
|---|---|
| Full Name | TLR Adaptor Interacting With SLC15A4 On The Lysosome |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 100506142 ncbi.nlm.nih.gov/gene/100506142 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | Q5T7N2 |
| OMIM ID | 301082 |
| HGNC ID | 53814 |
| Aliases | CXorf21, TASL1 |
Description
TASL encodes a small endolysosomal adaptor protein that interacts with SLC15A4 to facilitate TLR7 and TLR9 signaling. It is essential for IRF5 activation and type I interferon production in response to nucleic acid ligands. TASL is predominantly expressed in immune cells and its dysregulation is linked to systemic lupus erythematosus and other autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | TASL variants alter TLR7/9-IRF5 signaling, increasing interferon production | GWAS (PMID: 26502338) |
| Autoimmune disease (general) | Gain-of-function in TASL enhances type I interferon response | Functional studies (PMID: 32094951) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Whole blood | 8.9 | Low |
| Bone marrow | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B cells (GM12878) | 15.3 | High expression |
| Monocytes (THP-1) | 11.0 | Moderate expression |
| HEK293T | 0.5 | Very low / not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs123456 (example) | missense | <0.01% | Unknown functional impact |
| c.152A>G (p.Tyr51Cys) | missense | Rare | Predicted damaging (in silico) |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted to impair TLR7/9 signaling
Gain of Function (GOF)
Hypothesized in lupus risk alleles leading to increased IRF5 activation
Dominant Negative (DN)
No evidence currently
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • lysosome (GO:0005764) |
| • toll-like receptor 7 signaling pathway (GO:0034142) | • toll-like receptor 9 signaling pathway (GO:0034145) |
| • innate immune response (GO:0045087) |
Pathways
• ['TLR7/9 signaling (Reactome R-HSA-168928)']
• ['IRF5 activation (KEGG map04623)']
Protein Summary
TASL is a 182-amino acid protein localized to the endolysosomal membrane. It contains a conserved N-terminal region that binds SLC15A4 and a C-terminal domain that recruits IRF5. Upon TLR7/9 activation, TASL facilitates IRF5 phosphorylation and nuclear translocation, driving type I interferon gene expression. Its expression is restricted to immune tissues and cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TASL Knockout HEK293 Cell Line | EDJ-KQ9495 | Human | 80231 | Details Get a Quote |
| TASL Knockout HeLa Cell Line | EDJ-KQ57311 | Human | 80231 | Details Get a Quote |
| TASL Knockout A-549 Cell Line | EDJ-KQ65818 | Human | 80231 | Details Get a Quote |
| TASL Knockout HCT 116 Cell Line | EDJ-KQ74240 | Human | 80231 | Details Get a Quote |
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