TTI1

Chr 20q11.23

TELO2 interacting protein 1

Aliases:: smg-10
MANE:: ENST00000373447.8

OMIM: 614425 ↗NCBI: 9675 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TTI1 · O43156

v62025-08-01

Predicted Aligned Error matrix for TTI1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.3/ 100

Confident

1,089 residues

Confidence breakdown

Very high(≥ 90)44%
Confident(70–90)39%
Low(50–70)6%
Very low(< 50)11%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with microcephaly and movement abnormalities
0.62
Severe intellectual disability
0.41
Abnormal brain morphology
0.27
neurodegenerative disease
0.25
hereditary disease
0.19
Back pain
0.08
response to surgery
0.08
non-small cell lung carcinoma
0.07
hepatocellular carcinoma
0.07
alcohol drinking
0.07

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

Protein function (UniProt)

TELO2-interacting protein 1 homolog

Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals