TGFB1I1 (Transforming Growth Factor Beta 1 Induced Transcript 1)
A coactivator mediating TGF-β signaling and cytoskeletal dynamics
Gene Information Card
| Symbol | TGFB1I1 |
|---|---|
| Full Name | Transforming Growth Factor Beta 1 Induced Transcript 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 7041 ncbi.nlm.nih.gov/gene/7041 |
| Ensembl ID | ENSG00000140678 |
| UniProt ID | O43294 |
| OMIM ID | 602657 |
| HGNC ID | 11766 |
| Aliases | HIC5, ARA55, HIC-5, TSC-5 |
Description
TGFB1I1 encodes a protein that functions as a transcriptional coactivator and adaptor protein in focal adhesions. It is induced by TGF-β1 and mediates signaling pathways involved in cell growth, differentiation, and cytoskeletal organization. The protein contains LIM domains and interacts with nuclear receptors and focal adhesion components.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | TGFB1I1 (ARA55) acts as an androgen receptor coactivator; altered expression may influence tumor progression | PMID: 10644770 |
| Breast cancer | Overexpression correlates with poor prognosis; promotes cell migration and invasion via TGF-β signaling | PMID: 22926525 |
| Pulmonary fibrosis | TGFB1I1 is upregulated in fibrotic lung tissue; mediates TGF-β-induced extracellular matrix production | PMID: 20068192 |
| Cardiac fibrosis | Induced by TGF-β in cardiac fibroblasts; contributes to fibrotic remodeling | PMID: 21907142 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Heart | 8.7 | Medium |
| Prostate | 15.1 | High |
| Breast | 6.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 14.5 | High expression |
| MCF7 (breast cancer) | 7.8 | Moderate expression |
| PC3 (prostate cancer) | 18.2 | High expression |
| HepG2 (liver cancer) | 3.1 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional effect; reported in COSMIC |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Reported in cancer samples; no known pathogenicity |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role in tumor progression.
Dominant Negative (DN)
Not described for TGFB1I1.
View complete mutation data:
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (Reactome: R-HSA-2173789)
• Focal adhesion (KEGG: hsa04510)
• Androgen receptor signaling pathway (Reactome: R-HSA-5627123)
Protein Summary
The TGFB1I1 protein (HIC5/ARA55) is a 55 kDa LIM domain-containing protein that shuttles between the nucleus and focal adhesions. It acts as a coactivator for several transcription factors including the androgen receptor and Smad proteins. In the cytoplasm, it localizes to focal adhesions where it interacts with paxillin and FAK, regulating cell adhesion and migration. Its expression is induced by TGF-β and plays roles in fibrosis and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TGFB1I1 Knockout HEK293 Cell Line | EDJ-KQ5924 | Human | 7041 | Details Get a Quote |
| TGFB1I1 Knockout HeLa Cell Line | EDJ-KQ28187 | Human | 7041 | Details Get a Quote |
| TGFB1I1 Knockout A-549 Cell Line | EDJ-KQ29463 | Human | 7041 | Details Get a Quote |
| TGFB1I1 Knockout HCT 116 Cell Line | EDJ-KQ29464 | Human | 7041 | Details Get a Quote |
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