TOPORS

Chr 9p21.1

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

Aliases:: TP53BPL, LUN
MANE:: ENST00000360538.7

OMIM: 609507 ↗NCBI: 10210 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

TOPORS · Q9NS56

v62025-08-01

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

Mean pLDDT

49.0/ 100

Very low

1,045 residues

Confidence breakdown

Very high(≥ 90)11%
Confident(70–90)8%
Low(50–70)6%
Very low(< 50)76%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Glaucoma (developmental)
Ophthalmological ciliopathies
Primary ciliary disorders
Rare multisystem ciliopathy disorders
Skeletal dysplasia
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic dystrophies

Disease associations (Open Targets)

retinitis pigmentosa
0.71
retinitis pigmentosa 31
0.66
Retinal dystrophy
0.54
TOPORS-related retinopathy
0.44
autosomal dominant retinitis pigmentosa
0.37
Joubert syndrome with orofaciodigital defect
0.37
eye disorder
0.37
orofaciodigital syndrome type 6
0.37
hereditary disease
0.19
optic atrophy
0.15

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

Protein function (UniProt)

E3 ubiquitin-protein ligase Topors

Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin modification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation