TOR1AIP1

Chr 1q25.2

torsin 1A interacting protein 1

Aliases:: LAP1B, FLJ13142, LAP1, LAP1C
MANE:: ENST00000606911.7

OMIM: 614512 ↗NCBI: 26092 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

TOR1AIP1 · Q5JTV8

v62025-08-01

Predicted Aligned Error matrix for TOR1AIP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.0/ 100

Low

583 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)6%
Low(50–70)6%
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)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive limb-girdle muscular dystrophy type 2Y
0.77
neurodegenerative disease
0.52
TOR1AIP1-related myopathy
0.46
congenital myasthenic syndrome
0.37
Congenital myasthenic syndromes
0.37
centronuclear myopathy
0.34
Abnormality of refraction
0.29
aneurysm
0.28
peripheral vascular disease
0.24
prostate carcinoma
0.22

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

Protein function (UniProt)

Torsin-1A-interacting protein 1

Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina