AMOTL1

Chr 11q21

angiomotin like 1

Aliases:: JEAP
MANE:: ENST00000433060.3

OMIM: 614657 ↗NCBI: 154810 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

AMOTL1 · Q8IY63

v62025-08-01

Predicted Aligned Error matrix for AMOTL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.9/ 100

Low

956 residues

Confidence breakdown

Very high(≥ 90)26%
Confident(70–90)11%
Low(50–70)7%
Very low(< 50)56%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations

Disease associations (Open Targets)

craniofaciocardiohepatic syndrome
0.67
Varicose veins
0.33
basal cell carcinoma
0.30
cleft lip/palate
0.27
Long fingers
0.27
Abnormal pinna morphology
0.27
Tethered cord
0.27
Hypertelorism
0.27
auditory system disorder
0.25
gastrointestinal disease
0.24

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

Protein function (UniProt)

Angiomotin-like protein 1

Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus