InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TIA1

Summary

InnateDB Protein

IDBP-378557.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TIA1

Protein Name

TIA1 cytotoxic granule-associated RNA binding protein

Synonyms

TIA-1; WDM;

Species

Homo sapiens

Ensembl Protein

ENSP00000401371

InnateDB Gene

IDBG-55200 (TIA1)

Protein Structure

UniProt Annotation

Function

Involved in alternative pre-RNA splicing and regulation of mRNA translation by binding to AU-rich elements (AREs) located in mRNA 3' untranslated regions (3' UTRs). Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis.

Subcellular Localization

Cytoplasmic granule. Nucleus. Note=Accumulates in cytoplasmic stress granules (SG) following cellular damage.

Disease Associations

Welander distal myopathy (WDM) [MIM:604454]: An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement. {ECO:0000269PubMed:23348830, ECO:0000269PubMed:23401021}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 49 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	49 [view]
Protein-Protein	30 [view]
Protein-DNA	2 [view]
Protein-RNA	17 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003676	nucleic acid binding
GO:0005515	protein binding
GO:0008143	poly(A) binding
GO:0017091	AU-rich element binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006915	apoptotic process
GO:0017148	negative regulation of translation
GO:0042036	negative regulation of cytokine biosynthetic process
GO:0048024	regulation of mRNA splicing, via spliceosome