GenTIGS

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase (TOPORS) Associated conditions: 1. Retinitis pigmentosa

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001195622.2	NP_001182551.1	NC_000009.12	(32540543..32552585, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_005802.5	NP_005793.2	NC_000009.12	(32540543..32552585, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 182 reference articles

Variant Information TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase (TOPORS) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

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

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	part_of	ubiquitin ligase complex	Component	15247280
2	Homo sapiens	IBA	involved_in	protein polyubiquitination	Process	-
3	Homo sapiens	IDA	involved_in	protein polyubiquitination	Process	15247280
4	Homo sapiens	IDA	located_in	spindle pole	Component	21159800
5	Homo sapiens	IDA	part_of	gamma-tubulin complex	Component	21159800
6	Homo sapiens	IDA	enables	DNA binding	Function	11278651
7	Homo sapiens	IPI	enables	antigen binding	Function	10415337
8	Homo sapiens	IDA	enables	ubiquitin-protein transferase activity	Function	18077445
9	Homo sapiens	IMP	enables	ubiquitin-protein transferase activity	Function	19473992
10	Homo sapiens	IPI	enables	protein binding	Function	11842245 14516784 17803295 18077445 19473992 20188669
11	Homo sapiens	IDA	located_in	nucleus	Component	18077445
12	Homo sapiens	IEA	located_in	nucleus	Component	-
13	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
14	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
15	Homo sapiens	IDA	located_in	centriole	Component	21159800 26872363
16	Homo sapiens	NAS	involved_in	DNA-templated transcription	Process	10352183
17	Homo sapiens	IMP	involved_in	ubiquitin-dependent protein catabolic process	Process	19473992
18	Homo sapiens	IBA	involved_in	protein monoubiquitination	Process	-
19	Homo sapiens	IDA	involved_in	protein monoubiquitination	Process	15247280
20	Homo sapiens	IDA	involved_in	DNA damage response	Process	15735665
21	Homo sapiens	IEA	involved_in	DNA damage response	Process	-
22	Homo sapiens	IEA	enables	zinc ion binding	Function	-
23	Homo sapiens	IDA	involved_in	intrinsic apoptotic signaling pathway in response to DNA damage	Process	20188669
24	Homo sapiens	IEA	involved_in	intrinsic apoptotic signaling pathway in response to DNA damage	Process	-
25	Homo sapiens	ISS	involved_in	retina layer formation	Process	21159800
26	Homo sapiens	IDA	colocalizes_with	PML body	Component	21159800
27	Homo sapiens	IDA	located_in	PML body	Component	20188669
28	Homo sapiens	IEA	located_in	PML body	Component	-
29	Homo sapiens	IBA	is_active_in	nuclear speck	Component	-
30	Homo sapiens	IDA	located_in	nuclear speck	Component	14516784
31	Homo sapiens	IEA	enables	transferase activity	Function	-
32	Homo sapiens	IBA	involved_in	protein sumoylation	Process	-
33	Homo sapiens	IDA	involved_in	protein sumoylation	Process	17803295
34	Homo sapiens	IMP	involved_in	protein sumoylation	Process	20188669
35	Homo sapiens	TAS	involved_in	protein sumoylation	Process	-
36	Homo sapiens	EXP	enables	SUMO transferase activity	Function	17803295
37	Homo sapiens	IDA	enables	SUMO transferase activity	Function	17803295
38	Homo sapiens	IMP	enables	SUMO transferase activity	Function	19473992
39	Homo sapiens	TAS	located_in	midbody	Component	21159800
40	Homo sapiens	IBA	is_active_in	photoreceptor connecting cilium	Component	-
41	Homo sapiens	IDA	located_in	photoreceptor connecting cilium	Component	21159800
42	Homo sapiens	IEA	located_in	photoreceptor connecting cilium	Component	-
43	Homo sapiens	IMP	involved_in	protein localization to nucleus	Process	20188669
44	Homo sapiens	ISS	involved_in	photoreceptor cell outer segment organization	Process	21159800
45	Homo sapiens	IBA	is_active_in	ciliary basal body	Component	-
46	Homo sapiens	IDA	located_in	ciliary basal body	Component	21159800
47	Homo sapiens	IEA	located_in	ciliary basal body	Component	-
48	Homo sapiens	ISS	involved_in	negative regulation of apoptotic process	Process	21159800
49	Homo sapiens	IMP	involved_in	proteasome-mediated ubiquitin-dependent protein catabolic process	Process	18077445
50	Homo sapiens	IPI	enables	DNA topoisomerase binding	Function	10352183
51	Homo sapiens	IEA	enables	metal ion binding	Function	-
52	Homo sapiens	IDA	involved_in	maintenance of protein location in nucleus	Process	14516784
53	Homo sapiens	IBA	enables	ubiquitin protein ligase activity	Function	-
54	Homo sapiens	IDA	enables	ubiquitin protein ligase activity	Function	15247280
55	Homo sapiens	IEA	enables	ubiquitin protein ligase activity	Function	-
56	Homo sapiens	IDA	involved_in	protein K48-linked ubiquitination	Process	15247280