GenTIGS

RB transcriptional corepressor 1 (RB1) Associated conditions: 1. Lynch syndrome 2. Retinoblastoma

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_000321.3	NP_000312.2	NC_000013.11	(48303750..48481889)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001407165.1	NP_001394094.1	NC_000013.11	(48303750..48481889)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001407166.1	NP_001394095.1	NC_000013.11	(48303750..48481889)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NM_001407167.1	NP_001394096.1	NC_000013.11	(48303750..48481889)	Reference GRCh38.p14 Primary Assembly	-
5	REVIEWED	NM_001407168.1	NP_001394097.1	NC_000013.11	(48303750..48481889)	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 1 Link 21421 reference articles

Variant Information RB transcriptional corepressor 1 (RB1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene RB transcriptional corepressor 1 (RB1)

ClinVar variants:Revealing mutagenic patterns

GO Term of RB transcriptional corepressor 1 (RB1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	TAS	involved_in	negative regulation of transcription by RNA polymerase II	Process	19149898
2	Homo sapiens	IBA	is_active_in	chromatin	Component	-
3	Homo sapiens	IBA	enables	RNA polymerase II transcription regulatory region sequence-specific DNA binding	Function	-
4	Homo sapiens	IEA	involved_in	chondrocyte differentiation	Process	-
5	Homo sapiens	IEA	involved_in	aortic valve morphogenesis	Process	-
6	Homo sapiens	ISS	involved_in	aortic valve morphogenesis	Process	-
7	Homo sapiens	IEA	enables	DNA binding	Function	-
8	Homo sapiens	TAS	enables	transcription corepressor activity	Function	19149898
9	Homo sapiens	IPI	enables	protein binding	Function	1331501 1870208 2138977 2153075 2162480 2189724 7503932 7592647 7651420 7664264 7791904 7890747 7923370 8384581 8386265 8551580 8617242 8756624 9067421 9374493 9395244 9448006 9468139 9468140 9608663 9697699 9858607 9881977 10228159 10613832 10779361 10783144 10944455 11073990 11226179 11268000 11571652 11713253 12037672 12434308 12502741 12743606 12813456 12891711 14555653 14645241 15084261 15107404 15542589 16061792 16249186 16286473 16360038 16374512 16510145 16616919 16763564 16766265 16964284 17045206 17274640 17292836 17349581 17380128 17540172 17620057 18391203 19017275 19249677 19513100 19651603 20088881 20195357 20870719 20871633 21119616 21139044 21903422 21952639 22157815 22301153 22366686 22615382 22773103 22810586 22898364 23472054 23602568 23752268 23783631 23859194 24823443 25609649 25814554 29521627 29997244 32707033 34591612 34591642 35140242 39938803 40205054
10	Homo sapiens	IDA	located_in	nucleus	Component	1531329 17540172
11	Homo sapiens	IEA	located_in	nucleus	Component	-
12	Homo sapiens	NAS	located_in	nucleus	Component	2730637
13	Homo sapiens	TAS	located_in	nucleus	Component	3657987
14	Homo sapiens	IDA	located_in	nucleoplasm	Component	8245034
15	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
16	Homo sapiens	IEA	part_of	transcription regulator complex	Component	-
17	Homo sapiens	IEA	located_in	cytoplasm	Component	-
18	Homo sapiens	ISS	located_in	cytoplasm	Component	-
19	Homo sapiens	IEA	located_in	spindle	Component	-
20	Homo sapiens	TAS	located_in	cytosol	Component	-
21	Homo sapiens	IEA	involved_in	chromatin organization	Process	-
22	Homo sapiens	TAS	involved_in	chromatin remodeling	Process	19149898
23	Homo sapiens	IDA	involved_in	regulation of DNA-templated transcription	Process	1531329
24	Homo sapiens	NAS	involved_in	regulation of DNA-templated transcription	Process	2730637
25	Homo sapiens	IEA	involved_in	regulation of transcription by RNA polymerase II	Process	-
26	Homo sapiens	IPI	involved_in	negative regulation of protein kinase activity	Process	9858607
27	Homo sapiens	IEA	involved_in	apoptotic process	Process	-
28	Homo sapiens	IEP	involved_in	Ras protein signal transduction	Process	9054499
29	Homo sapiens	IEA	involved_in	spermatogenesis	Process	-
30	Homo sapiens	IMP	involved_in	regulation of mitotic cell cycle	Process	20551165
31	Homo sapiens	IDA	part_of	cyclin/CDK positive transcription elongation factor complex	Component	12037672
32	Homo sapiens	IMP	acts_upstream_of_or_within	negative regulation of gene expression	Process	25100735
33	Homo sapiens	TAS	part_of	SWI/SNF complex	Component	19149898
34	Homo sapiens	IDA	located_in	PML body	Component	9448006
35	Homo sapiens	IEA	enables	enzyme binding	Function	-
36	Homo sapiens	IDA	enables	kinase binding	Function	16286473
37	Homo sapiens	IBA	involved_in	cell differentiation	Process	-
38	Homo sapiens	IEA	involved_in	negative regulation of cell growth	Process	-
39	Homo sapiens	ISS	involved_in	negative regulation of cell growth	Process	-
40	Homo sapiens	IMP	involved_in	sister chromatid biorientation	Process	20551165
41	Homo sapiens	IBA	involved_in	neuron projection development	Process	-
42	Homo sapiens	IDA	involved_in	heterochromatin formation	Process	17540172
43	Homo sapiens	IPI	enables	ubiquitin protein ligase binding	Function	10944455
44	Homo sapiens	IEA	involved_in	developmental process	Process	-
45	Homo sapiens	IEA	involved_in	cellular response to insulin stimulus	Process	-
46	Homo sapiens	IMP	involved_in	maintenance of mitotic sister chromatid cohesion	Process	20551165
47	Homo sapiens	IBA	part_of	Rb-E2F complex	Component	-
48	Homo sapiens	IDA	part_of	Rb-E2F complex	Component	8245034
49	Homo sapiens	IEA	part_of	Rb-E2F complex	Component	-
50	Homo sapiens	TAS	part_of	Rb-E2F complex	Component	19149898
51	Homo sapiens	IPI	enables	identical protein binding	Function	8288605 16360038
52	Homo sapiens	IDA	involved_in	regulation of lipid kinase activity	Process	16286473
53	Homo sapiens	IMP	involved_in	myoblast differentiation	Process	15541338
54	Homo sapiens	IEA	involved_in	negative regulation of cell cycle	Process	-
55	Homo sapiens	ISS	involved_in	negative regulation of cell cycle	Process	24027266
56	Homo sapiens	IMP	involved_in	positive regulation of mitotic metaphase/anaphase transition	Process	20551165
57	Homo sapiens	IDA	involved_in	negative regulation of DNA-templated transcription	Process	10783144 12065415 19223331
58	Homo sapiens	IMP	involved_in	negative regulation of DNA-templated transcription	Process	17540172
59	Homo sapiens	TAS	involved_in	negative regulation of DNA-templated transcription	Process	19149898
60	Homo sapiens	IBA	involved_in	cell morphogenesis involved in neuron differentiation	Process	-
61	Homo sapiens	IEA	involved_in	negative regulation of inflammatory response	Process	-
62	Homo sapiens	ISS	involved_in	negative regulation of inflammatory response	Process	-
63	Homo sapiens	IPI	enables	phosphoprotein binding	Function	16360038
64	Homo sapiens	IMP	involved_in	chromosome organization	Process	20551165
65	Homo sapiens	IEA	involved_in	regulation of cell cycle	Process	-
66	Homo sapiens	TAS	involved_in	regulation of cell cycle	Process	19149898
67	Homo sapiens	EXP	enables	molecular adaptor activity	Function	16360038
68	Homo sapiens	IEA	enables	RNA polymerase II-specific DNA-binding transcription factor binding	Function	-
69	Homo sapiens	IPI	enables	importin-alpha family protein binding	Function	12695505
70	Homo sapiens	IMP	involved_in	protein localization to chromosome, centromeric region	Process	20551165
71	Homo sapiens	IPI	enables	disordered domain specific binding	Function	8245034
72	Homo sapiens	IEA	involved_in	negative regulation of cold-induced thermogenesis	Process	-
73	Homo sapiens	ISS	involved_in	negative regulation of cold-induced thermogenesis	Process	19417128
74	Homo sapiens	IEA	enables	DNA-binding transcription factor binding	Function	-
75	Homo sapiens	IPI	enables	DNA-binding transcription factor binding	Function	19223331
76	Homo sapiens	IEA	involved_in	positive regulation of extracellular matrix organization	Process	-
77	Homo sapiens	ISS	involved_in	positive regulation of extracellular matrix organization	Process	-
78	Homo sapiens	IEA	involved_in	negative regulation of hepatocyte apoptotic process	Process	-
79	Homo sapiens	IEA	involved_in	positive regulation of collagen fibril organization	Process	-
80	Homo sapiens	ISS	involved_in	positive regulation of collagen fibril organization	Process	-
81	Homo sapiens	IEA	involved_in	negative regulation of myofibroblast differentiation	Process	-
82	Homo sapiens	ISS	involved_in	negative regulation of myofibroblast differentiation	Process	-
83	Homo sapiens	IBA	involved_in	negative regulation of G1/S transition of mitotic cell cycle	Process	-
84	Homo sapiens	TAS	acts_upstream_of	negative regulation of G1/S transition of mitotic cell cycle	Process	19149898
85	Homo sapiens	IDA	acts_upstream_of_or_within	positive regulation of transcription regulatory region DNA binding	Process	25100735
86	Homo sapiens	IEA	involved_in	negative regulation of apoptotic signaling pathway	Process	-
87	Homo sapiens	ISS	involved_in	negative regulation of apoptotic signaling pathway	Process	24027266