DBR1

Chr 3q22.3

debranching RNA lariats 1

MANE:: ENST00000260803.9

OMIM: 607024 ↗NCBI: 51163 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DBR1 · Q9UK59

v62025-08-01

Predicted Aligned Error matrix for DBR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.3/ 100

Confident

544 residues

Confidence breakdown

Very high(≥ 90)66%
Confident(70–90)5%
Low(50–70)2%
Very low(< 50)27%

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
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.53
xerosis and growth failure with immune and pulmonary dysfunction syndrome
0.50
hereditary disease
0.19
ichthyosis
0.19
retinitis pigmentosa
0.10
early-onset non-syndromic cataract
0.09
Posterior polar cataract
0.09
early-onset zonular cataract
0.09
posterior polymorphous corneal dystrophy
0.08
Partial congenital cataract
0.08

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

Protein function (UniProt)

Lariat debranching enzyme

Cleaves the 2'-5' phosphodiester linkage at the branch point of excised lariat intron RNA and converts them into linear molecules that can be subsequently degraded, thereby facilitating ribonucleotide turnover (PubMed:10982890, PubMed:16232320, PubMed:2435736). Linked to its role in pre-mRNA processing mechanism, may also participate in retrovirus replication via an RNA lariat intermediate in cDNA synthesis and have an antiviral cell-intrinsic defense function in the brainstem (PubMed:16232320, PubMed:29474921)