LIG1

Chr 19q13.33

DNA ligase 1

Aliases:: LIGI, hLig1
MANE:: ENST00000263274.12

OMIM: 126391 ↗NCBI: 3978 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LIG1 · P18858

v62025-08-01

Predicted Aligned Error matrix for LIG1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.8/ 100

Confident

919 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)8%
Low(50–70)1%
Very low(< 50)29%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
IUGR and IGF abnormalities
BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

immunodeficiency 96
0.69
HIV infectious disease
0.37
neurodegenerative disease
0.24
Epiretinal membrane
0.24
neoplasm
0.10
ventricular septal defect
0.09
breast cancer
0.08
Constitutional sideroblastic anemia
0.08
autosomal dominant sideroblastic anemia
0.08
Hemoglobin C - beta-thalassemia
0.08

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

Protein function (UniProt)

Leucine-rich repeats and immunoglobulin-like domains protein 1

Acts as a feedback negative regulator of signaling by receptor tyrosine kinases, through a mechanism that involves enhancement of receptor ubiquitination and accelerated intracellular degradation