TGFB1I1

Chr 16

transforming growth factor beta 1 induced transcript 1

Also known as: ARA55, HIC-5, HIC5, TSC-5

NCBI Gene: 7041 ENSG00000140682 UniProt: O43294

The protein functions as a molecular adapter coordinating protein interactions at focal adhesions and serves as a nuclear receptor coactivator regulating glucocorticoid, androgen, mineralocorticoid and progesterone receptor activity. Mutations cause autosomal dominant intellectual disability with variable features including developmental delay, behavioral abnormalities, and sometimes seizures or autism spectrum disorder. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.576), consistent with its role in neurodevelopment.

ResearchSummary from RefSeq, UniProt

This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

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

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P/LP missense

0.58

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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