TIA1 gene

TIA1 cytotoxic granule associated RNA binding protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms of this gene product has been described in the literature. [provided by RefSeq, Jul 2008]

From UniProt:

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.

From NCBI Gene:

  • Gower's muscular dystrophy

From UniProt:

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. [MIM:604454]

Cytogenetic Location: 2p13.3, which is the short (p) arm of chromosome 2 at position 13.3

Molecular Location: base pairs 70,209,444 to 70,248,793 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p13.3, which is the short (p) arm of chromosome 2 at position 13.3
  • TIA-1
  • WDM