UBR1

Chr 15q15.2

ubiquitin protein ligase E3 component n-recognin 1

MANE:: ENST00000290650.9

OMIM: 605981 ↗NCBI: 197131 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

UBR1 · Q8IWV7

v62025-08-01

Predicted Aligned Error matrix for UBR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.7/ 100

Confident

1,749 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)37%
Low(50–70)7%
Very low(< 50)6%

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
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Johanson-Blizzard syndrome
0.83
hereditary disease
0.47
neurodegenerative disease
0.31
aortic stenosis
0.30
Intellectual disability
0.15
microcephaly
0.14
autism spectrum disorder
0.09
gastric cancer
0.08
hereditary continuous muscle fiber activity
0.06
Emery-Dreifuss muscular dystrophy
0.06

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

Protein function (UniProt)

E3 ubiquitin-protein ligase UBR1

E3 ubiquitin-protein ligase which is a component of the N-end rule pathway (PubMed:15548684, PubMed:16311597, PubMed:18162545, PubMed:20835242, PubMed:28392261). Recognizes and binds proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (PubMed:18162545, PubMed:20835242, PubMed:28392261). Recognizes both type-1 and type-2 N-degrons, containing positively charged amino acids (Arg, Lys and His) and bulky and hydrophobic amino acids, respectively (PubMed:18162545). Does not ubiquitinate proteins that are acetylated at the N-terminus (PubMed:20835242). In contrast, it strongly binds methylated N-degrons (PubMed:28392261). Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth (PubMed:20298436)