• Gene id: 10210

Gene Summary

• Gene Symbol: TOPORS   Gene   UCSC   Ensembl
• Aliases: LUN, P53BP3, RP31, TP53BPL
• Gene name: TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
• Alternate names: E3 ubiquitin-protein ligase Topors, RING-type E3 ubiquitin transferase Topors, SUMO1-protein E3 ligase Topors, TOP1 binding arginine/serine rich protein, topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase, topoisomerase I-binding RING f,
• Gene location: 9p21.1 (32552627: 32540543)     Exons: 3     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 605403

Protein Summary

• Protein general information: Q9NS56  
  • 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
  • Length: 1045  
  • Mass: 119198
  • 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:

  MGSQPPLGSPLSREEGEAPPPAPASEGRRRSRRVRLRGSCRHRPSFLGCRELAASAPARPAPASSEIMASAAKEF
  KMDNFSPKAGTSKLQQTVPADASPDSKCPICLDRFDNVSYLDRCLHKFCFRCVQEWSKNKAECPLCKQPFDSIFH
  SVRAEDDFKEYVLRPSYNGSFVTPDRRFRYRTTLTRERNASVYSPSGPVNRRTTTPPDSGVLFEGLGISTRPRDV
  EIPQFMRQIAVRRPTTADERSLRKIQEQDIINFRRTLYRAGARVRNIEDGGRYRDISAEFFRRNPACLHRLVPWL
  KRELTVLFGAHGSLVNIVQHIIMSNVTRYDLESQAFVSDLRPFLLNRTEHFIHEFISFARSPFNMAAFDQHANYD
  CPAPSYEEGSHSDSSVITISPDEAETQELDINVATVSQAPWDDETPGPSYSSSEQVHVTMSSLLNTSDSSDEELV
  TGGATSQIQGVQTNDDLNNDSDDSSDNCVIVGFVKPLAERTPELVELSSDSEDLGSYEKMETVKTQEQEQSYSSG
  DSDVSRCSSPHSVLGKDEQINKGHCDSSTRIKSKKEEKRSTSLSSPRNLNSSVRGDRVYSPYNHRHRKRGRSRSS
  DSRSQSRSGHDQKNHRKHHGKKRMKSKRSRSRESSRPRGRRDKKRSRTRDSSWSRRSQTLSLSSESTSRSRSRSS
  DHGKRRSRSRNRDRYYLRNNYGSRYKWEYTYYSRNKDRDGYESSYRRRTLSRAHYSRQSSSPEFRVQSFSERTNA
  RKKNNHSERKYYYYERHRSRSLSSNRSRTASTGTDRVRNEKPGGKRKYKTRHLEGTNEVAQPSREFASKAKDSHY
  QKSSSKLDGNYKNESDTFSDSRSSDRETKHKRRKRKTRSLSVEIVYEGKATDTTKHHKKKKKKHKKKHKKHHGDN
  ASRSPVVITIDSDSDKDSEVKEDTECDNSGPQDPLQNEFLAPSLEPFETKDVVTIEAEFGVLDKECDIATLSNNL
  NNANKTVDNIPPLAASVEQTLDVREESTFVSDLENQPSNIVSLQTEPSRQLPSPRTSLMSVCLGRDCDMS

• Structural information:
  • Interpro: IPR001841  IPR013083  IPR017907  
  • Prosite: PS00518 PS50089
  • STRING: ENSP00000353735
• Other Databases: GeneCards:  TOPORS  Malacards:  TOPORS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005814	centriole	IDA	cellular component
GO:0036064	ciliary basal body	IBA	cellular component
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0006513	protein monoubiquitination	IBA	biological process
GO:0016607	nuclear speck	IBA	cellular component
GO:0016925	protein sumoylation	IBA	biological process
GO:0032391	photoreceptor connecting cilium	IBA	cellular component
GO:0019789	SUMO transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0016925	protein sumoylation	IDA	biological process
GO:0016605	PML body	IDA	cellular component
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0034504	protein localization to nucleus	IMP	biological process
GO:0019789	SUMO transferase activity	IMP	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0004842	ubiquitin-protein transferase activity	IMP	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0016925	protein sumoylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0019789	SUMO transferase activity	EXP	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0051443	positive regulation of ubiquitin-protein transferase activity	IDA	biological process
GO:0070936	protein K48-linked ubiquitination	IDA	biological process
GO:0005868	cytoplasmic dynein complex	TAS	colocalizes with
GO:0010842	retina layer formation	ISS	biological process
GO:0035845	photoreceptor cell outer segment organization	ISS	biological process
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0046548	retinal rod cell development	ISS	biological process
GO:0000922	spindle pole	IDA	cellular component
GO:0000930	gamma-tubulin complex	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0006513	protein monoubiquitination	IDA	biological process
GO:0016605	PML body	IDA	colocalizes with
GO:0032391	photoreceptor connecting cilium	IDA	cellular component
GO:0030496	midbody	TAS	cellular component
GO:0046549	retinal cone cell development	ISS	biological process
GO:0016605	PML body	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0051457	maintenance of protein location in nucleus	IDA	biological process
GO:0016607	nuclear speck	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0003823	antigen binding	IPI	molecular function
GO:0044547	DNA topoisomerase binding	IPI	molecular function
GO:0006351	transcription, DNA-templated	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq