Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10210
Gene name	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
Gene symbol	TOPORS
Synonyms (NCBI Gene)	LUNP53BP3RP31TP53BPL
Chromosome	9
Chromosome location	9p21.1
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

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139859703	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs372292364	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs527236116	CTCT>-,CT	Pathogenic	Frameshift variant, coding sequence variant
rs869312183	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1246790145	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554671407	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563983151	TCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1587620892	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1587620953	->T	Pathogenic	Stop gained, coding sequence variant

Show/Hide all (92)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005324	hsa-miR-21-5p	Luciferase reporter assayqRT-PCR	18829576
MIRT005324	hsa-miR-21-5p	Microarray	18591254
MIRT439400	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439399	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439400	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT726249	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726248	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726247	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726246	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT439399	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT739216	hsa-miR-197	HITS-CLIP	33718276
MIRT739217	hsa-miR-5096	HITS-CLIP	33718276
MIRT1447392	hsa-miR-142-5p	CLIP-seq
MIRT1447393	hsa-miR-193a-3p	CLIP-seq
MIRT1447394	hsa-miR-193b	CLIP-seq
MIRT1447395	hsa-miR-198	CLIP-seq
MIRT1447396	hsa-miR-21	CLIP-seq
MIRT1447397	hsa-miR-3180-5p	CLIP-seq
MIRT1447398	hsa-miR-340	CLIP-seq
MIRT1447399	hsa-miR-34a	CLIP-seq
MIRT1447400	hsa-miR-34c-5p	CLIP-seq
MIRT1447401	hsa-miR-3653	CLIP-seq
MIRT1447402	hsa-miR-3658	CLIP-seq
MIRT1447403	hsa-miR-410	CLIP-seq
MIRT1447404	hsa-miR-4279	CLIP-seq
MIRT1447405	hsa-miR-4320	CLIP-seq
MIRT1447406	hsa-miR-449a	CLIP-seq
MIRT1447407	hsa-miR-449b	CLIP-seq
MIRT1447408	hsa-miR-455-3p	CLIP-seq
MIRT1447409	hsa-miR-4643	CLIP-seq
MIRT1447410	hsa-miR-466	CLIP-seq
MIRT1447411	hsa-miR-4789-3p	CLIP-seq
MIRT1447412	hsa-miR-520a-5p	CLIP-seq
MIRT1447413	hsa-miR-525-5p	CLIP-seq
MIRT1447414	hsa-miR-548u	CLIP-seq
MIRT1447415	hsa-miR-577	CLIP-seq
MIRT1447416	hsa-miR-590-5p	CLIP-seq
MIRT1447417	hsa-miR-892b	CLIP-seq
MIRT1447418	hsa-miR-106a	CLIP-seq
MIRT1447419	hsa-miR-106b	CLIP-seq
MIRT1447420	hsa-miR-17	CLIP-seq
MIRT1447421	hsa-miR-2052	CLIP-seq
MIRT1447422	hsa-miR-20a	CLIP-seq
MIRT1447423	hsa-miR-20b	CLIP-seq
MIRT1447424	hsa-miR-412	CLIP-seq
MIRT1447425	hsa-miR-4274	CLIP-seq
MIRT1447426	hsa-miR-448	CLIP-seq
MIRT1447427	hsa-miR-4519	CLIP-seq
MIRT1447428	hsa-miR-4659a-3p	CLIP-seq
MIRT1447429	hsa-miR-4659b-3p	CLIP-seq
MIRT1447430	hsa-miR-498	CLIP-seq
MIRT1447431	hsa-miR-513a-3p	CLIP-seq
MIRT1447432	hsa-miR-519a	CLIP-seq
MIRT1447433	hsa-miR-519b-3p	CLIP-seq
MIRT1447434	hsa-miR-519c-3p	CLIP-seq
MIRT1447435	hsa-miR-519d	CLIP-seq
MIRT1447436	hsa-miR-522	CLIP-seq
MIRT1447437	hsa-miR-548n	CLIP-seq
MIRT1447438	hsa-miR-548t	CLIP-seq
MIRT1447439	hsa-miR-93	CLIP-seq
MIRT1447440	hsa-miR-938	CLIP-seq
MIRT1447396	hsa-miR-21	CLIP-seq
MIRT1447397	hsa-miR-3180-5p	CLIP-seq
MIRT1447412	hsa-miR-520a-5p	CLIP-seq
MIRT1447413	hsa-miR-525-5p	CLIP-seq
MIRT1447416	hsa-miR-590-5p	CLIP-seq
MIRT1447418	hsa-miR-106a	CLIP-seq
MIRT1447419	hsa-miR-106b	CLIP-seq
MIRT2354907	hsa-miR-1304	CLIP-seq
MIRT1447420	hsa-miR-17	CLIP-seq
MIRT1447422	hsa-miR-20a	CLIP-seq
MIRT1447423	hsa-miR-20b	CLIP-seq
MIRT1447424	hsa-miR-412	CLIP-seq
MIRT2354908	hsa-miR-425	CLIP-seq
MIRT1447426	hsa-miR-448	CLIP-seq
MIRT2354909	hsa-miR-4670-3p	CLIP-seq
MIRT1447432	hsa-miR-519a	CLIP-seq
MIRT1447433	hsa-miR-519b-3p	CLIP-seq
MIRT1447434	hsa-miR-519c-3p	CLIP-seq
MIRT1447435	hsa-miR-519d	CLIP-seq
MIRT1447437	hsa-miR-548n	CLIP-seq
MIRT1447438	hsa-miR-548t	CLIP-seq
MIRT1447439	hsa-miR-93	CLIP-seq
MIRT2648654	hsa-miR-298	CLIP-seq
MIRT2648655	hsa-miR-452	CLIP-seq
MIRT2648656	hsa-miR-4676-3p	CLIP-seq
MIRT2648657	hsa-miR-4693-5p	CLIP-seq
MIRT1447430	hsa-miR-498	CLIP-seq
MIRT1447415	hsa-miR-577	CLIP-seq
MIRT2648655	hsa-miR-452	CLIP-seq
MIRT2648656	hsa-miR-4676-3p	CLIP-seq
MIRT2648657	hsa-miR-4693-5p	CLIP-seq

Show/Hide all (60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IDA	15247280
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IDA	15247280
GO:0000922	Component	Spindle pole	IDA	21159800
GO:0000930	Component	Gamma-tubulin complex	IDA	21159800
GO:0003677	Function	DNA binding	IDA	11278651
GO:0003823	Function	Antigen binding	IPI	10415337
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	18077445
GO:0004842	Function	Ubiquitin-protein transferase activity	IMP	19473992
GO:0005515	Function	Protein binding	IPI	11842245, 14516784, 17803295, 18077445, 19473992, 20188669
GO:0005634	Component	Nucleus	IDA	18077445
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005814	Component	Centriole	IDA	21159800, 26872363
GO:0006351	Process	DNA-templated transcription	NAS	10352183
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IMP	19473992
GO:0006513	Process	Protein monoubiquitination	IBA
GO:0006513	Process	Protein monoubiquitination	IDA	15247280
GO:0006974	Process	DNA damage response	IDA	15735665
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IDA	20188669
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0010842	Process	Retina layer formation	ISS	21159800
GO:0016605	Component	PML body	IDA	21159800
GO:0016605	Component	PML body	IDA	20188669
GO:0016605	Component	PML body	IEA
GO:0016607	Component	Nuclear speck	IBA
GO:0016607	Component	Nuclear speck	IDA	14516784
GO:0016740	Function	Transferase activity	IEA
GO:0016925	Process	Protein sumoylation	IBA
GO:0016925	Process	Protein sumoylation	IDA	17803295
GO:0016925	Process	Protein sumoylation	IMP	20188669
GO:0016925	Process	Protein sumoylation	TAS
GO:0019789	Function	SUMO transferase activity	EXP	17803295
GO:0019789	Function	SUMO transferase activity	IDA	17803295
GO:0019789	Function	SUMO transferase activity	IMP	19473992
GO:0030496	Component	Midbody	TAS	21159800
GO:0032391	Component	Photoreceptor connecting cilium	IBA
GO:0032391	Component	Photoreceptor connecting cilium	IDA	21159800
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0034504	Process	Protein localization to nucleus	IMP	20188669
GO:0035845	Process	Photoreceptor cell outer segment organization	ISS	21159800
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	21159800
GO:0036064	Component	Ciliary basal body	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042771	Process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS	21159800
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	18077445
GO:0044547	Function	DNA topoisomerase binding	IPI	10352183
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051457	Process	Maintenance of protein location in nucleus	IDA	14516784
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	15247280
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	15247280

MIM	HGNC	e!Ensembl
609507	21653	ENSG00000197579

Q9NS56

Protein name

E3 ubiquitin-protein ligase Topors (EC 2.3.2.27) (RING-type E3 ubiquitin transferase Topors) (SUMO1-protein E3 ligase Topors) (Topoisomerase I-binding RING finger protein) (Topoisomerase I-binding arginine/serine-rich protein) (Tumor suppressor p53-bindin

Protein function

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 reg

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13920	zf-C3HC4_3	99 → 148		Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at highest levels in testis and at lower levels in adrenal gland, bone marrow, brain, colon, heart, kidney, liver, muscle, ovary, pancreas, placenta, prostate, skeletal muscle, skin, small intestine, spleen, stomach, testis,

Sequence

MGSQPPLGSPLSREEGEAPPPAPASEGRRRSRRVRLRGSCRHRPSFLGCRELAASAPARP
APASSEIMASAAKEFKMDNFSPKAGTSKLQQTVPADASPDSKCPICLDRFDNVSYLDRCL
HKFCFRCVQEWSKNKAECPLCKQPFDSIFHSVRAEDDFKEYVLRPSYNGSFVTPDRRFRY
RTTLTRERNASVYSPSGPVNRRTTTPPDSGVLFEGLGISTRPRDVEIPQFMRQIAVRRPT
TADERSLRKIQEQDIINFRRTLYRAGARVRNIEDGGRYRDISAEFFRRNPACLHRLVPWL
KRELTVLFGAHGSLVNIVQHIIMSNVTRYDLESQAFVSDLRPFLLNRTEHFIHEFISFAR
SPFNMAAFDQHANYDCPAPSYEEGSHSDSSVITISPDEAETQELDINVATVSQAPWDDET
PGPSYSSSEQVHVTMSSLLNTSDSSDEELVTGGATSQIQGVQTNDDLNNDSDDSSDNCVI
VGFVKPLAERTPELVELSSDSEDLGSYEKMETVKTQEQEQSYSSGDSDVSRCSSPHSVLG
KDEQINKGHCDSSTRIKSKKEEKRSTSLSSPRNLNSSVRGDRVYSPYNHRHRKRGRSRSS
DSRSQSRSGHDQKNHRKHHGKKRMKSKRSRSRESSRPRGRRDKKRSRTRDSSWSRRSQTL
SLSSESTSRSRSRSSDHGKRRSRSRNRDRYYLRNNYGSRYKWEYTYYSRNKDRDGYESSY
RRRTLSRAHYSRQSSSPEFRVQSFSERTNARKKNNHSERKYYYYERHRSRSLSSNRSRTA
STGTDRVRNEKPGGKRKYKTRHLEGTNEVAQPSREFASKAKDSHYQKSSSKLDGNYKNES
DTFSDSRSSDRETKHKRRKRKTRSLSVEIVYEGKATDTTKHHKKKKKKHKKKHKKHHGDN
ASRSPVVITIDSDSDKDSEVKEDTECDNSGPQDPLQNEFLAPSLEPFETKDVVTIEAEFG
VLDKECDIATLSNNLNNANKTVDNIPPLAASVEQTLDVREESTFVSDLENQPSNIVSLQT
EPSRQLPSPRTSLMSVCLGRDCDMS

Sequence length

1045

Interactions

View interactions

	Reactome
			SUMOylation of transcription cofactors SUMOylation of SUMOylation proteins SUMOylation of immune response proteins

220

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Retinal dystrophy	Likely pathogenic; Pathogenic	rs527236116, rs869312183, rs1563983151, rs1587620892, rs927241903, rs1821068883, rs1821069769	RCV001073465 RCV000210308 RCV001074126 RCV001075070 RCV003890162 RCV003890223 RCV001073376 RCV004814060
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs527236116, rs1554671407, rs1246790145, rs1587620892	RCV000132654 RCV000505011 RCV000504822 RCV000988171 RCV001003229
Retinitis pigmentosa 31	Likely pathogenic; Pathogenic	rs527236116, rs1587620953, rs2489446452, rs869312183, rs1563983151	RCV001376212 RCV000001723 RCV003164468 RCV005235122 RCV000001724 RCV000678633
TOPORS-related disorder	Pathogenic	rs1587620953	RCV003415623

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal retinal pigmentation	Uncertain significance	rs146483990	RCV000626889
Blurred vision	Uncertain significance	rs146483990	RCV000626889
Macular degeneration	Uncertain significance	rs146483990	RCV000626889
Optic atrophy	Uncertain significance	rs1282071395, rs199926017	RCV004817038 RCV004817137
Pigmentary retinopathy	Uncertain significance	rs146483990	RCV000626889
Prostate cancer	Uncertain significance	rs193920910	RCV000149097
Retinitis Pigmentosa, Dominant	Likely benign; Uncertain significance	rs140010425, rs886063856, rs886063855, rs201977387, rs886063850, rs34721491, rs187268836	RCV000267954 RCV000357565 RCV000285945 RCV000288410 RCV000407583 RCV000306680 RCV000271546 RCV000401316
Sarcoma	Uncertain significance	rs752719297	RCV005900561
Thyroid cancer, nonmedullary, 1	Likely benign	rs1467147353	RCV005928594

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	37227088
Ataxia Neuropathy Spectrum	Associate	37227088
Ciliopathies	Associate	34132027, 37227088
Colorectal Neoplasms	Associate	29194591, 34689394
Glioblastoma	Associate	21649900
Hamartoma Syndrome Multiple	Associate	34132027
Leukemia Promyelocytic Acute	Associate	17924349
Lung Neoplasms	Associate	11278651
Neoplasms	Inhibit	11278651, 19821153, 30463513
Neoplasms	Associate	34689394
Orofaciodigital Syndromes	Associate	34132027, 37227088
Osteosarcoma	Associate	17976381
Patterned dystrophy of retinal pigment epithelium	Associate	17924349
Polydactyly Postaxial	Associate	34132027
Retinitis Pigmentosa	Associate	17924349, 18509552, 23559859, 23950152, 26720483, 28076437, 34132027, 35579903, 35814500
Retinopathy Pericentral Pigmentary Autosomal Recessive	Associate	19183411
Small Cell Lung Carcinoma	Associate	11278651

TOPORS (TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase)