TAX1BP1 Gene: TAX1 Binding Protein 1
A scaffold protein involved in NF-κB signaling, autophagy, and antiviral responses.
Gene Information Card
| Symbol | TAX1BP1 |
|---|---|
| Full Name | Tax1 (Human T-cell leukemia virus type I) binding protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.2 |
| NCBI Gene ID | 8887 ncbi.nlm.nih.gov/gene/8887 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q86VP1 |
| OMIM ID | 605327 |
| HGNC ID | 11574 |
| Aliases | T6BP, TXBP151, CALCOCO3 |
Description
TAX1BP1 encodes a scaffold protein that interacts with the Tax protein of human T-cell leukemia virus type 1 (HTLV-1). It plays a critical role in regulating NF-κB signaling, autophagy, and antiviral innate immune responses. The protein contains a SKIP carboxyl homology domain and coiled-coil regions, and is involved in the formation of ubiquitin-dependent signaling complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) | TAX1BP1 binds HTLV-1 Tax protein, modulating NF-κB activation and viral pathogenesis. | PMID: 12077311 |
| Autoinflammatory diseases | Dysregulation of NF-κB signaling due to TAX1BP1 deficiency may contribute to chronic inflammation. | PMID: 21884936 |
| Cancer (various) | Altered TAX1BP1 expression affects NF-κB and autophagy pathways, influencing tumor progression. | PMID: 25605247 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | High expression |
| HeLa | 9.8 | Medium expression |
| Jurkat | 7.2 | Low expression |
| HepG2 | 11.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Unknown functional effect |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Unknown functional effect |
| c.1789_1790insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1789_1790insA) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) |
| • autophagy (GO:0006914) | • innate immune response (GO:0045087) |
| • cytoplasm (GO:0005737) |
Pathways
• NF-kappaB signaling pathway (Reactome: R-HSA-9758274)
• Autophagy (KEGG: hsa04140)
• RIG-I/MDA5 mediated induction of IFN-alpha/beta (Reactome: R-HSA-168928)
Protein Summary
TAX1BP1 is a 789-amino acid scaffold protein with a molecular weight of approximately 89 kDa. It contains a SKIP carboxyl homology domain and coiled-coil regions. The protein interacts with ubiquitin chains and various signaling molecules, including TRAF6, to regulate NF-κB activation. It also participates in selective autophagy by targeting ubiquitinated substrates to the autophagic machinery.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAX1BP1 Knockout HEK293 Cell Line | EDJ-KQ2195 | Human | 8887 | Details Get a Quote |
| TAX1BP1 Knockout A-549 Cell Line | EDJ-KQ22425 | Human | 8887 | Details Get a Quote |
| TAX1BP1 Knockout HCT 116 Cell Line | EDJ-KQ22426 | Human | 8887 | Details Get a Quote |
| TAX1BP1 Knockout HeLa Cell Line | EDJ-KQ22427 | Human | 8887 | Details Get a Quote |
