TIAM1

Chr 21q22.11

TIAM Rac1 associated GEF 1

MANE:: ENST00000541036.6

OMIM: 600687 ↗NCBI: 7074 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TIAM1 · Q13009

v62025-08-01

Predicted Aligned Error matrix for TIAM1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.9/ 100

Low

1,591 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)23%
Low(50–70)4%
Very low(< 50)51%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with language delay and seizures
0.62
alcohol drinking
0.43
hypothyroidism
0.38
complex neurodevelopmental disorder
0.37
nerve plexus disorder
0.32
urolithiasis
0.30
aortic atherosclerosis
0.29
diverticular disease
0.29
psychiatric disorder
0.27
sprain
0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Rho guanine nucleotide exchange factor TIAM1

Guanyl-nucleotide exchange factor that activates RHO-like proteins and connects extracellular signals to cytoskeletal activities. Activates RAC1, CDC42, and to a lesser extent RHOA and their downstream signaling to regulate processes like cell adhesion and cell migration