LRIF1

Chr 1p13.3

ligand dependent nuclear receptor interacting factor 1

Aliases:: RIF1, FLJ11269
MANE:: ENST00000369763.5

OMIM: 615354 ↗NCBI: 55791 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LRIF1 · Q5T3J3

v62025-08-01

Predicted Aligned Error matrix for LRIF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

48.6/ 100

Very low

769 residues

Confidence breakdown

Very high(≥ 90)3%
Confident(70–90)16%
Low(50–70)10%
Very low(< 50)71%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Distal myopathies
BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

facioscapulohumeral muscular dystrophy 4, digenic
0.45
facioscapulohumeral muscular dystrophy
0.23
schizophrenia
0.04
acute lymphoblastic leukemia
0.02
tuberculosis
0.02
chronic kidney disease
0.01
B-cell chronic lymphocytic leukemia
0.01
hepatocellular carcinoma
0.01
intrahepatic cholangiocarcinoma
0.01
Facioscapulohumeral dystrophy
0.01

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

Protein function (UniProt)

Ligand-dependent nuclear receptor-interacting factor 1

Together with SMCHD1, involved in chromosome X inactivation in females by promoting the compaction of heterochromatin (PubMed:23542155). Also able to repress the ligand-induced transcriptional activity of retinoic acid receptor alpha (RARA), possibly through direct recruitment of histone deacetylases (PubMed:17455211). Also required for silencing of the DUX4 locus in somatic cells (PubMed:32467133)