TOPORS - TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase Gene

Homo sapiens

Also known as LUN; RP31; P53BP3; TP53BPL

Gene ID: 10210 | Gene type: protein coding

About TOPORS

Cytogenetic location: 9p21.1 Genomic coordinates (GRCh38): 9:32,540,544-32,552,586 (from NCBI)

This gene has 2 transcripts (splice variants), 252 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 10.5), bone marrow (RPKM 10.0) and 25 other tissues.

Summary

This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 Ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]

TOPORS Products(2)

mRNA	Protein	Name
NM_001195622.2	NP_001182551.1	E3 ubiquitin-protein ligase Topors isoform 2
NM_005802.5	NP_005793.2	E3 ubiquitin-protein ligase Topors isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA binding	IDA IDA: Inferred from direct assay	11278651	GOA
enables DNA topoisomerase binding	IPI IPI: Inferred from physical interaction	10352183	GOA
enables SUMO transferase activity	EXP EXP: Inferred from Experiment	17803295	GOA
enables SUMO transferase activity	IDA IDA: Inferred from direct assay	17803295	GOA
enables SUMO transferase activity	IMP IMP: Inferred from mutant phenotype	19473992	GOA
enables antigen binding	IPI IPI: Inferred from physical interaction	10415337	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11842245	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	15247280	GOA
enables ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	18077445	GOA
enables ubiquitin-protein transferase activity	IMP IMP: Inferred from mutant phenotype	19473992	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	15735665	GOA
involved in intrinsic apoptotic signaling pathway in response to DNA damage	IDA IDA: Inferred from direct assay	20188669	GOA
involved in maintenance of protein location in nucleus	IDA IDA: Inferred from direct assay	14516784	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	18077445	GOA
involved in protein K48-linked ubiquitination	IDA IDA: Inferred from direct assay	15247280	GOA
involved in protein localization to nucleus	IMP IMP: Inferred from mutant phenotype	20188669	GOA
involved in protein monoubiquitination	IDA IDA: Inferred from direct assay	15247280	GOA
involved in protein polyubiquitination	IDA IDA: Inferred from direct assay	15247280	GOA
involved in protein sumoylation	IDA IDA: Inferred from direct assay	17803295	GOA
involved in protein sumoylation	IMP IMP: Inferred from mutant phenotype	20188669	GOA
involved in ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	19473992	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with PML body	IDA IDA: Inferred from direct assay	21159800	GOA
located in PML body	IDA IDA: Inferred from direct assay	20188669	GOA
located in centriole	IDA IDA: Inferred from direct assay	21159800	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	21159800	GOA
part of gamma-tubulin complex	IDA IDA: Inferred from direct assay	21159800	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	14516784	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18077445	GOA
located in photoreceptor connecting cilium	IDA IDA: Inferred from direct assay	21159800	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	21159800	GOA
part of ubiquitin ligase complex	IDA IDA: Inferred from direct assay	15247280	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TOPORS Protein Structure

zf-C3HC4

0
200
400
600
800
1045 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase Topors

RING-type E3 ubiquitin transferase Topors

TOPORS Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	TOPORS	Q9NS56	Rep68	Adeno-associated virus 2	P03132	Y2H	11842245

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Retinitis Pigmentosa 31

RP31	Retinitis Pigmentosa-31
Retinitis Pigmentosa, Type 31

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Orofaciodigital Syndrome Vi

OFD6	Varadi-Papp Syndrome
Varadi Syndrome	Joubert Syndrome With Orofaciodigital Defect
Orofaciodigital Syndrome Type 6	Orofaciodigital Syndrome 6
Oral-Facial-Digital Syndrome, Type Vi	Ofds Vi
Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation	Polydactyly Cleft Lip Palate Psychomotor Retardation
Oral-Facial-Digital Syndrome Type 6	Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome
Polydactyly - Cleft Lip/Palate - Psychomotor Retardation	Váradi Syndrome
Váradi-Papp Syndrome	Joubert Syndrome With Oral-Facial-Digital Syndrome
Oral-Facial-Digital Syndrome 6	Joubert-Orofaciodigital Syndrome
Orofaciodigital Syndrome, Type Vi

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Retinitis

Cold-Induced Sweating Syndrome 3

Retinitis Pigmentosa 74

RP74	Retinitis Pigmentosa, Type 74

Retinal Degeneration

Degeneration Of Retina

Renal-Hepatic-Pancreatic Dysplasia

Ivemark'S Syndrome	Ivemark Ii Syndrome
Renohepaticopancreatic Dysplasia

Choroidal Dystrophy, Central Areolar, 1

Choroidal Sclerosis	Choroidal Dystrophy
Choroidal Dystrophy, Central Areolar	Cacd
Central Areolar Choroidal Dystrophy	CACD1
Choroidal Dystrophy, Central Areolar 1	Choroidal Dystrophy Central Areolar
Central Areolar Choroidal Sclerosis	Choroidal Degenerations
Areolar Atrophy Of The Macula	Partial Central Choroid Dystrophy
Degenerative Choroidopathy	Chorioretinal Degeneration
Hereditary Chorioretinal Degeneration	Hereditary Degeneration Of Choroid
Hereditary Choroidal Dystrophies	Generalised Choroidal Dystrophy
Hereditary Choroidopathy

Usher Syndrome Type 2

Ush2	Usher Syndrome Type Ii

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Phase
HY-U00248A	LMP744 hydrochloride	Inhibitor	99.70%	Phase 1
HY-18350	Indimitecan	Inhibitor	98.03%	Phase 1
HY-U00248	LMP744	Inhibitor	98.85%	Phase 1

Pre-clinical Phase

Bioactive Molecules (51)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-111630	PluriSIn #2	Inhibitor	≥98.0%	Unkown
HY-118581	Coralyne chloride	Inhibitor	98.30%	Unkown
HY-116785	BRD32048	Inhibitor	99.94%	Unkown
HY-N0114A	(±)-Evodiamine		99.74%	Unkown
HY-160005	LMP517	Inhibitor	99.58%	Unkown
HY-RS14894	TOP2A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-101115	PI3K-IN-6	Inhibitor	/	Unkown
HY-P10742	CBX-12	Inhibitor	/	Unkown
HY-117142	Quizalofop-P	Inhibitor	/	Unkown
HY-118911	ATM Inhibitor-10	Inhibitor	/	Unkown
HY-120638	BMS-250749	Inhibitor	/	Unkown
HY-121560	L-leucyldoxorubicin		/	Unkown
HY-121866	CP-84364	Inhibitor	/	Unkown
HY-122594	BNS-22	Inhibitor	/	Unkown
HY-125387	TOP1210		/	Unkown
HY-126142	Top1 inhibitor 1	Inhibitor	/	Unkown
HY-13550	Ametantrone	Inhibitor	/	Unkown
HY-143265	Topoisomerase I inhibitor 2		/	Unkown
HY-144222	NSC 828467	Inhibitor	/	Unkown
HY-144654	HDAC/Top-IN-1	Inhibitor	/	Unkown
HY-145851	Top/HDAC-IN-1		/	Unkown
HY-145852	Top/HDAC-IN-2		/	Unkown
HY-146437	Topoisomerase I inhibitor 6	Inhibitor	/	Unkown
HY-149348	DiPT-4		/	Unkown
HY-159966	Top/HDAC-IN-3		/	Unkown
HY-160856	TOP5300	Agonist	/	Unkown
HY-160857	TOP5668	Agonist	/	Unkown
HY-161957	Top1/2-IN-1	Inhibitor	/	Unkown
HY-163118	Topoisomerase II inhibitor 17		/	Unkown
HY-164143	T638	Inhibitor	/	Unkown
HY-16560B	(R)-Camptothecin	Control	/	Unkown
HY-168739	Topoisomerase I inhibitor 17		/	Unkown
HY-18350A	Indimitecan hydrochloride	Inhibitor	/	Unkown
HY-N6621	Hippeastrine	Inhibitor	/	Unkown
HY-N6621A	Hippeastrine hydrobromide	Inhibitor	/	Unkown
HY-P4926	Mca-SEVKMDAEFRK(Dnp)RR-NH2		/	Unkown
HY-RS14890	TOP1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS14891	Top1 Mouse Pre-designed siRNA Set A		/	Unkown
HY-RS14892	Top1 Rat Pre-designed siRNA Set A		/	Unkown
HY-RS14893	TOP1MT Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS14895	Top2a Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS14896	Top2a Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS14897	TOP2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS14898	TOP3A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS14899	TOP3B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS14902	TOPORS Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-118942	Topovale	Inhibitor	/	Unkown
HY-133219	Guajadial C	Inhibitor	/	Unkown
HY-160930	TOP1288	Inhibitor	/	Unkown
HY-164429	VIP236		/	Unkown
HY-169173	AL284	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TOPORS	RGD	RGD:1305270
Canis familiaris	TOPORS	VGNC	VGNC:47712
Macaca mulatta	TOPORS	VGNC	VGNC:79330
Mus musculus	TOPORS	MGD	MGI:2146189
Felis catus	TOPORS	VGNC	VGNC:66453
Bos taurus	TOPORS	VGNC	VGNC:36222

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