TAB1 Gene - TGF-Beta Activated Kinase 1 Binding Protein 1
Comprehensive gene information for TAB1, including genomic context, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | TAB1 |
|---|---|
| Full Name | TGF-Beta Activated Kinase 1 Binding Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 10454 ncbi.nlm.nih.gov/gene/10454 |
| Ensembl ID | ENSG00000100324 |
| UniProt ID | Q15750 |
| OMIM ID | 602615 |
| HGNC ID | 1157 |
| Aliases | MAP3K7IP1, 3'-Tab1, TAB1beta |
Description
TAB1 (TGF-Beta Activated Kinase 1 Binding Protein 1) encodes a protein that binds to and activates MAP3K7 (TAK1), a key kinase in the TGF-beta, BMP, and IL-1 signaling pathways. The TAB1 protein is essential for TAK1 kinase activity and mediates cellular responses to stress, inflammation, and developmental signals. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy (DCM) | Mutations in TAB1 impair TAK1 activation, disrupting cardiac stress signaling and leading to heart failure. | ClinVar, OMIM |
| Cancer (various) | Overexpression or aberrant activation of TAB1/TAK1 pathway promotes tumor cell survival, proliferation, and inflammation. | COSMIC, NCBI |
| Inflammatory Diseases | Dysregulation of TAB1-mediated NF-kB and JNK pathways contributes to chronic inflammation. | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal Muscle | 9.8 | Medium |
| Brain | 6.5 | Low |
| Liver | 5.2 | Low |
| Kidney | 8.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.5 | Medium expression |
| K562 | 7.3 | Low expression |
| MCF7 | 9.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511C>T (p.Arg171Trp) | Missense | <0.01% | Impaired TAK1 binding; associated with dilated cardiomyopathy |
| c.784G>A (p.Gly262Ser) | Missense | <0.01% | Reduced kinase activation; reported in ClinVar |
| c.1021_1023del (p.Lys341del) | Deletion | Rare | Loss of function; linked to developmental disorders |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that disrupt TAB1-TAK1 interaction or reduce TAK1 activation, leading to impaired signaling.
Gain of Function (GOF)
Not well documented; overexpression in cancers may confer gain-of-function through sustained TAK1 activity.
Dominant Negative (DN)
Some TAB1 mutants may act as dominant-negative by sequestering TAK1 or competing with wild-type TAB1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• IL-1 signaling pathway (Reactome: R-HSA-446652)
• TAK1-mediated NF-kB activation (Reactome: R-HSA-168142)
Protein Summary
The TAB1 protein (UniProt Q15750) is a 504-amino acid scaffold that binds specifically to the kinase domain of MAP3K7 (TAK1). It contains a conserved C-terminal domain required for TAK1 interaction and a N-terminal region that mediates oligomerization. TAB1 is ubiquitously expressed and localizes to the cytoplasm and nucleus. Post-translational modifications include phosphorylation and ubiquitination, which modulate its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAB1 Knockout HEK293 Cell Line | EDJ-KQ591 | Human | 10454 | Details Get a Quote |
| TAB1 Knockout A-549 Cell Line | EDJ-KQ19019 | Human | 10454 | Details Get a Quote |
| TAB1 Knockout HCT 116 Cell Line | EDJ-KQ19020 | Human | 10454 | Details Get a Quote |
| TAB1 Knockout HeLa Cell Line | EDJ-KQ19021 | Human | 10454 | Details Get a Quote |
