TIAL1 Gene: TIA1 Cytotoxic Granule-Associated RNA Binding Protein Like 1
Comprehensive genomic and functional overview of TIAL1, a key regulator of RNA splicing and stress granule assembly.
Gene Information Card
| Symbol | TIAL1 |
|---|---|
| Full Name | TIA1 cytotoxic granule-associated RNA binding protein like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 7073 ncbi.nlm.nih.gov/gene/7073 |
| Ensembl ID | ENSG00000151923 |
| UniProt ID | Q01085 |
| OMIM ID | 603413 |
| HGNC ID | 11804 |
| Aliases | TIAR, TIA-1-related protein, TIA1-like 1 |
Description
TIAL1 encodes a member of the RRM (RNA recognition motif) family of RNA-binding proteins. The protein is involved in alternative pre-mRNA splicing and is a key component of stress granules, which are cytoplasmic aggregates that form under cellular stress. TIAL1 regulates the expression of multiple genes by binding to AU-rich elements in the 3' UTR of mRNAs, influencing mRNA stability and translation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of TIAL1 expression alters splicing of oncogenes and tumor suppressors, promoting cell proliferation and survival. | COSMIC; PMID: 23451064 |
| Neurodegenerative disorders | TIAL1 aggregation in stress granules may contribute to neuronal toxicity in conditions such as amyotrophic lateral sclerosis (ALS). | ClinVar; PMID: 29754769 |
| Autoimmune diseases | TIAL1 variants may affect immune cell function through altered RNA processing. | OMIM; PMID: 15689429 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Testis | 15.2 | High |
| Spleen | 9.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line; high expression |
| HEK293 | 11.2 | Embryonic kidney; moderate expression |
| K562 | 7.5 | Leukemia; low expression |
| SH-SY5Y | 13.8 | Neuroblastoma; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | 0.001% (gnomAD) | Alters RNA-binding affinity; potential loss of function |
| c.256G>A (p.Gly86Arg) | Missense | 0.002% (gnomAD) | Associated with altered stress granule dynamics |
| c.487_489del (p.Lys163del) | In-frame deletion | Rare | May affect protein stability and splicing regulation |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt RNA-binding domains (e.g., p.Pro34Leu) reduce TIAL1's ability to regulate mRNA splicing and stability.
Gain of Function (GOF)
Not well documented; some missense variants may enhance aggregation propensity in stress granules.
Dominant Negative (DN)
Truncating or deletion mutations that interfere with wild-type TIAL1 function in splicing complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• mRNA surveillance pathway (KEGG: hsa03015)
• Spliceosome (KEGG: hsa03040)
• Regulation of mRNA stability by AU-rich elements (Reactome: R-HSA-450531)
Protein Summary
TIAL1 is a 392-amino acid RNA-binding protein containing three RRM domains. It shuttles between the nucleus and cytoplasm, where it participates in splicing regulation and stress granule formation. The protein interacts with TIA1 and other RNA-binding proteins to modulate gene expression post-transcriptionally. Post-translational modifications include phosphorylation, which influences its localization and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIAL1 Knockout HEK293 Cell Line | EDJ-KQ11140 | Human | 7073 | Details Get a Quote |
| TIAL1 Knockout A-549 Cell Line | EDJ-KQ40380 | Human | 7073 | Details Get a Quote |
| TIAL1 Knockout HCT 116 Cell Line | EDJ-KQ40381 | Human | 7073 | Details Get a Quote |
| TIAL1 Knockout HeLa Cell Line | EDJ-KQ40382 | Human | 7073 | Details Get a Quote |
