RecName: Full=E3 ubiquitin-protein ligase Topors; AltName: Full=RING-t - Protein

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Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867. [Invest Ophthalmol Vis Sci. 2022]
Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.
Wang J, Wang Y, Jiang Y, Li X, Xiao X, Li S, Jia X, Sun W, Wang P, Zhang Q. Invest Ophthalmol Vis Sci. 2022 May 2; 63(5):19.
Mutations of TOPORS identified in families with retinitis pigmentosa. [Ophthalmic Genet. 2022]
Mutations of TOPORS identified in families with retinitis pigmentosa.
He K, Zhou Y, Li N. Ophthalmic Genet. 2022 Jun; 43(3):371-377. Epub 2022 Mar 7.
A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa. [Ophthalmic Genet. 2017]
A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.
Latasiewicz M, Salvetti AP, MacLaren RE. Ophthalmic Genet. 2017 Dec; 38(6):562-566. Epub 2017 Apr 28.

RefSeq genomic sequence
See the genomic reference sequence for the TOPORS gene (NG_017050.1).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the TOPORS gene.

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Q9NS56 [Domain Mapping of Disease Mut...]
Q9NS56
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=E3 ubiquitin-protein ligase Topors; AltName: Full=RING-type E3 ubi...
RecName: Full=E3 ubiquitin-protein ligase Topors; AltName: Full=RING-type E3 ubiquitin transferase Topors; AltName: Full=SUMO1-protein E3 ligase Topors; AltName: Full=Topoisomerase I-binding RING finger protein; AltName: Full=Topoisomerase I-binding arginine/serine-rich protein; AltName: Full=Tumor suppressor p53-binding protein 3; Short=p53-binding protein 3; Short=p53BP3
gi|74752935|sp|Q9NS56.1|TOPRS_HUMAN

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