TRAT1

Chr 3

T cell receptor associated transmembrane adaptor 1

Also known as: HSPC062, TCRIM, TRIM, pp29/30

NCBI Gene: 50852 ENSG00000163519 UniProt: Q6PIZ9

TRAT1 encodes a transmembrane adaptor protein that stabilizes the T-cell receptor (TCR)/CD3 complex at the T-cell surface and regulates receptor recycling and signal transduction. Mutations cause severe combined immunodeficiency with autosomal recessive inheritance. The gene shows low constraint to loss-of-function variation, consistent with recessive disease patterns.

ResearchSummary from RefSeq, UniProt

Predicted to enable transmembrane receptor protein tyrosine kinase adaptor activity. Acts upstream of or within negative regulation of receptor recycling; negative regulation of transport; and positive regulation of signal transduction. Located in centriolar satellite; mitotic spindle; and plasma membrane. Part of T cell receptor complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.78

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429