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The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RBL1 (RB Transcriptional Corepressor Like 1) is a Protein Coding gene. Diseases associated with RBL1 include Retinoblastoma and Bilateral Retinoblastoma. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is RBL2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0001012 | RNA polymerase II regulatory region DNA binding | IBA | -- |
GO:0001102 | RNA polymerase II activating transcription factor binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 1331501 |
GO:0008134 | transcription factor binding | IPI | 16360038 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | IBA | 21873635 |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005667 | transcription factor complex | IEA,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell cycle Cell cycle (generic schema) |
Cell cycle Cell cycle (generic schema)
.38
Cell cycle Regulation of G1/S transition (part 2)
.38
|
.31
|
2 | Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer | ||
3 | Cell cycle |
.58
|
.58
|
4 | Cell Cycle, Mitotic |
.83
|
|
5 | Cyclins and Cell Cycle Regulation |
.31
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0007049 | cell cycle | IEA | -- |
GO:0007346 | regulation of mitotic cell cycle | IBA | 21873635 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RBL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RBL1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RBL1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rbl1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rbl1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | RBL1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | RBL1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RBL1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rbl1 30 |
|
||
Str.7030 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | rbl1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Rbf 31 32 |
|
ManyToMany | |
Rbf2 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | lin-35 30 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | RBR1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os11g0533500 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4619 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4304n100 | CNV | gain | 25217958 |
esv3645750 | CNV | gain | 21293372 |
esv3645751 | CNV | gain | 21293372 |
nsv1058953 | CNV | gain | 25217958 |
nsv585951 | CNV | loss | 21841781 |
nsv585952 | CNV | loss | 21841781 |
nsv962578 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinoblastoma |
|
|
bilateral retinoblastoma |
|
|
unilateral retinoblastoma |
|
|
cecum adenoma |
|
|
cecal benign neoplasm |
|
|