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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TOPORS
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
Chromosome 9 Β· 9p21.1
NCBI Gene: 10210Ensembl: ENSG00000197579.9HGNC: HGNC:21653UniProt: Q9NS56
82PubMed Papers
21Diseases
0Drugs
21Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
PML bodyDNA bindingantigen bindingubiquitin-protein transferase activityretinitis pigmentosaretinitis pigmentosa 31Retinal dystrophyTOPORS-related retinopathy
✦AI Summary

TOPORS is a dual E3 ubiquitin and SUMO ligase that functions as a SUMO-targeted ubiquitin ligase (STUbL) with roles in DNA damage response and protein quality control. 1 As a STUbL, TOPORS combines ubiquitin ligase activity through its RING domain with poly-SUMO binding via SUMO-interacting motifs, functioning as a SUMO1-selective enzyme that complements RNF4 in generating complex ubiquitin landscapes on SUMOylated targets. 1 Mechanistically, TOPORS promotes resolution of DNA-protein crosslinks (DPCs) by recognizing SUMOylated substrates and targeting them for proteasomal degradation. 2 This function is particularly critical for resolving DNA methyltransferase 1 (DNMT1)-DPCs induced by hypomethylating agents and decitabine treatment. 32 TOPORS also mediates SUMO-dependent degradation of the oncogenic PML fusion protein in response to arsenic treatment in acute promyelocytic leukemia. 4 Clinically, TOPORS loss-of-function enhances sensitivity to hypomethylating agents in myeloid malignancies without impairing normal hematopoiesis, suggesting therapeutic potential through TOPORS inhibition combined with DNA methyltransferase inhibitors. 35 TOPORS mutations cause autosomal dominant retinitis pigmentosa, likely through impaired proteostasis in retinal photoreceptors. 6

Sources cited
1
TOPORS functions as a SUMO1-selective STUbL with RING domain ubiquitin ligase activity and SUMO-interacting motifs; works with RNF4 in DPC repair and cellular stress responses
PMID: 38649616
2
TOPORS is an E3 ubiquitin and SUMO1 ligase recruited to SUMOylated DNMT1-DPCs to promote their degradation and DNA methyltransferase crosslink resolution
PMID: 38760575
3
TOPORS knockout augments hypomethylating agent efficacy in myeloid leukemia through impaired ubiquitination of SUMOylated DNMT1, stabilizing crosslinks
PMID: 39198387
4
TOPORS depletion synergizes with hypomethylating agents in MDS/AML by impairing DNA damage response and promoting SUMOylated DNMT1 accumulation without affecting normal hematopoiesis
PMID: 39198401
5
TOPORS mediates SUMO1-dependent degradation of PML oncogenic fusion protein in arsenic-treated acute promyelocytic leukemia; resistance mutations disrupt SUMO1 conjugation threshold for TOPORS recruitment
PMID: 40239066
6
TOPORS is a dual E3 ubiquitin and SUMO1 ligase interacting with proteasome regulatory subunit PSMC1; mutations cause autosomal dominant retinitis pigmentosa with retina-specific phenotype
PMID: 26872363
Disease Associationsβ“˜21
retinitis pigmentosaOpen Targets
0.69Moderate
retinitis pigmentosa 31Open Targets
0.65Moderate
Retinal dystrophyOpen Targets
0.54Moderate
TOPORS-related retinopathyOpen Targets
0.44Moderate
autosomal dominant retinitis pigmentosaOpen Targets
0.41Moderate
eye diseaseOpen Targets
0.37Weak
Joubert syndrome with orofaciodigital defectOpen Targets
0.37Weak
orofaciodigital syndrome type 6Open Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
optic atrophyOpen Targets
0.15Weak
Abnormal retinal pigmentationOpen Targets
0.15Weak
Pigmentary retinopathyOpen Targets
0.15Weak
choroideremiaOpen Targets
0.12Weak
Abnormality of visionOpen Targets
0.12Weak
Adult-onset night blindnessOpen Targets
0.12Weak
Blurred visionOpen Targets
0.12Weak
Decreased light- and dark-adapted electroretinogram amplitudeOpen Targets
0.12Weak
HypermetropiaOpen Targets
0.12Weak
macular degenerationOpen Targets
0.12Weak
Macular dystrophyOpen Targets
0.12Weak
Retinitis pigmentosa 31UniProt
Pathogenic Variants21
NM_005802.5(TOPORS):c.2422G>T (p.Glu808Ter)Pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 808
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs)Pathogenic
Retinitis pigmentosa|not provided|Retinal dystrophy|Retinitis pigmentosa 31
β˜…β˜…β˜†β˜†2025β†’ Residue 852
NM_005802.5(TOPORS):c.2558_2559insT (p.His855fs)Pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 855
NM_005802.5(TOPORS):c.2474dup (p.Tyr825Ter)Pathogenic
Retinitis pigmentosa 31|not provided|TOPORS-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 825
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs)Pathogenic
Retinitis pigmentosa 31|Retinitis pigmentosa|Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 852
NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter)Pathogenic
Retinal dystrophy|not provided|Retinitis pigmentosa 31
β˜…β˜…β˜†β˜†2025β†’ Residue 847
NM_005802.5(TOPORS):c.2550_2553del (p.Asp850fs)Pathogenic
Retinitis pigmentosa 31|Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 850
NM_005802.5(TOPORS):c.2482del (p.Ser828fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 828
NM_005802.5(TOPORS):c.2431C>T (p.Gln811Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 811
NM_005802.5(TOPORS):c.2565_2566del (p.His855fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 855
NM_005802.5(TOPORS):c.2539_2540del (p.Arg847fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 847
NM_005802.5(TOPORS):c.2569_2570del (p.Arg857fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 857
NM_005802.5(TOPORS):c.2455A>T (p.Lys819Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 819
NM_005802.5(TOPORS):c.2524dup (p.Thr842fs)Likely pathogenic
Retinitis pigmentosa|Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 842
NM_005802.5(TOPORS):c.121del (p.Arg41fs)Likely pathogenic
TOPORS-related retinopathy
β˜…β˜†β˜†β˜†2023β†’ Residue 41
NM_005802.5(TOPORS):c.2895dup (p.Cys966fs)Likely pathogenic
Retinitis pigmentosa
β˜…β˜†β˜†β˜†2019β†’ Residue 966
NM_005802.5(TOPORS):c.2587dup (p.Arg863fs)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2019β†’ Residue 863
NM_005802.5(TOPORS):c.2084_2087del (p.Asn695fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 695
NM_005802.5(TOPORS):c.1882C>T (p.Arg628Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 628
NM_005802.5(TOPORS):c.2539del (p.Arg847fs)Pathogenic
Retinitis pigmentosa 31
β˜†β˜†β˜†β˜†2022β†’ Residue 847
View on ClinVar β†—
Related Genes
TUBGCP4Protein interaction100%MZT1Protein interaction100%TUBGCP5Protein interaction100%MZT2BProtein interaction99%PLK1Protein interaction98%TOP1Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
47%
Ovary
40%
Liver
37%
Heart
33%
Lung
28%
Gene Interaction Network
Click a node to explore
TOPORSTUBGCP4MZT1TUBGCP5MZT2BPLK1TOP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NS56
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.42Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.30 [0.22–0.42]
RankingsWhere TOPORS stands among ~20K protein-coding genes
  • #5,833of 20,598
    Most Researched82
  • #2,146of 5,498
    Most Pathogenic Variants21
  • #2,200of 17,882
    Most Constrained (LOEUF)0.42 Β· top quartile
Genes detectedTOPORS
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Longevity biotechnology: bridging AI, biomarkers, geroscience and clinical applications for healthy longevity.
PMID: 39418098
Aging (Albany NY) Β· 2024
1.00
2
PMID: 20301590
0.90
3
Inhibition of TOPORS ubiquitin ligase augments the efficacy of DNA hypomethylating agents through DNMT1 stabilization.
PMID: 39198387
Nat Commun Β· 2024
0.80
4
TOPORS E3 ligase mediates resistance to hypomethylating agent cytotoxicity in acute myeloid leukemia cells.
PMID: 39198401
Nat Commun Β· 2024
0.70
5
Concerted SUMO-targeted ubiquitin ligase activities of TOPORS and RNF4 are essential for stress management and cell proliferation.
PMID: 38649616
Nat Struct Mol Biol Β· 2024
0.60