TIA1

TIA1 cytotoxic granule associated RNA binding protein

2 disorders 1 disputed 1 modifier 2p13.3 gene with protein product

HGNC:11802 Monarch NCBI Gene 7072 ENSG00000116001 UniProt P31483 OMIM 603518

Aliases: TIA-1.

Normal function · from ai-gene-review (P31483, commit 79fe13b38970) · AI-generated, not KB evidence

TIA1 is an RNA-binding protein containing three RNA recognition motifs (RRMs) and a C-terminal glutamine-rich prion-like domain. It functions as a master regulator of gene expression by controlling alternative splicing through U1 snRNP recruitment to weak 5' splice sites followed by U-rich sequences, nucleating stress granules under cellular stress, and repressing translation by binding AU-rich elements in mRNA 3'UTRs. TIA1 plays critical roles in apoptosis regulation, stress response, and immune cell function.

Promoting U1 snRNP recruitment to weak 5' splice sites containing downstream U-rich sequences to facilitate alternative exon inclusion

molecular function: protein-RNA adaptor activity · directly involved in: regulation of alternative mRNA splicing, via spliceosome · locations: nucleoplasm · substrates: ribonucleic acid

Nucleating stress granule assembly through prion-like domain-mediated phase separation to sequester untranslated mRNAs during cellular stress

molecular function: RNA binding · directly involved in: stress granule assembly · locations: cytoplasmic stress granule; cytosol

Repressing translation by binding AU-rich elements in mRNA 3' UTRs to silence specific mRNAs

molecular function: mRNA 3'-UTR AU-rich region binding · directly involved in: negative regulation of translation · locations: cytosol

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Amyotrophic Lateral Sclerosis	disputed	mechanism: RNA-Binding Protein Mislocalization and Stress Granule Dysfunction subtype: ALS26 scoped to subtype: ALS26
SQSTM1-related Multisystem Proteinopathy	modifier	mechanism: Persistent Stress Granules subtype: DMRV scoped to subtype: DMRV

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
amyotrophic lateral sclerosis 26 with or without frontotemporal dementia MONDO:0030885	AD	Limited 2022-10-11	Amyotrophic Lateral Sclerosis disputed

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.