UBR7

Chr 14q32.12

ubiquitin protein ligase E3 component n-recognin 7

MANE:: ENST00000013070.11

OMIM: 613816 ↗NCBI: 55148 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

UBR7 · Q8N806

v62025-08-01

Predicted Aligned Error matrix for UBR7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.4/ 100

Confident

425 residues

Confidence breakdown

Very high(≥ 90)44%
Confident(70–90)26%
Low(50–70)6%
Very low(< 50)24%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Li-Campeau syndrome
0.68
hypothyroidism
0.46
epilepsy
0.46
Intellectual disability
0.46
autosomal recessive non-syndromic intellectual disability
0.37
complex neurodevelopmental disorder
0.37
Mild intellectual disability
0.33
corneal degeneration
0.25
Global developmental delay
0.11
neoplasm
0.09

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

Protein function (UniProt)

Putative E3 ubiquitin-protein ligase UBR7

E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation