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TIA1

OverviewProducts

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.

Involvement in disease

Welander distal myopathy

WDM

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Cellular localization

  • Cytoplasm
  • Stress granule
  • Nucleus
  • Accumulates in cytoplasmic stress granules (SG) following cellular damage.

Alternative names

  • Nucleolysin TIA-1 isoform p40
  • RNA-binding protein TIA-1
  • T-cell-restricted intracellular antigen-1
  • p40-TIA-1
  • TIA-1
  • TIA1

Database links

Target type

Proteins

Primary research area

Immuno-oncology

Molecular weight

42963Da