Homo sapiens Gene: RBL1 | |||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||
InnateDB Gene | IDBG-73739.6 | ||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||
Gene Symbol | RBL1 | ||||||||||||||||||||||||||
Gene Name | retinoblastoma-like 1 (p107) | ||||||||||||||||||||||||||
Synonyms | CP107; p107; PRB1 | ||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||
Ensembl Gene | ENSG00000080839 | ||||||||||||||||||||||||||
Encoded Proteins |
retinoblastoma-like 1 (p107)
retinoblastoma-like 1 (p107)
retinoblastoma-like 1 (p107)
retinoblastoma-like 1 (p107)
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Protein Structure | |||||||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||||
Summary |
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] |
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Gene Information | |||||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||||
Genomic Location | Chromosome 20:36996349-37095995 | ||||||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||||||
Band | q11.23 | ||||||||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 124 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||||||
NETPATH |
ID pathway
TGF_beta_Receptor pathway
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REACTOME |
G0 and Early G1 pathway
Cyclin D associated events in G1 pathway
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription pathway
Generic Transcription Pathway pathway
G1 Phase pathway
SMAD4 MH2 Domain Mutants in Cancer pathway
Loss of Function of SMAD4 in Cancer pathway
Loss of Function of SMAD2/3 in Cancer pathway
Signaling by TGF-beta Receptor Complex in Cancer pathway
Mitotic G1-G1/S phases pathway
TGFBR2 MSI Frameshift Mutants in Cancer pathway
Signal Transduction pathway
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer pathway
SMAD2/3 MH2 Domain Mutants in Cancer pathway
Loss of Function of TGFBR2 in Cancer pathway
Cell Cycle pathway
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
TGFBR1 KD Mutants in Cancer pathway
Cell Cycle, Mitotic pathway
Loss of Function of TGFBR1 in Cancer pathway
TGFBR1 LBD Mutants in Cancer pathway
TGFBR2 Kinase Domain Mutants in Cancer pathway
Gene Expression pathway
Disease pathway
Signaling by TGF-beta Receptor Complex pathway
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KEGG |
TGF-beta signaling pathway pathway
Cell cycle pathway
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INOH | |||||||||||||||||||||||||||
PID NCI |
Validated targets of C-MYC transcriptional repression
E2F transcription factor network
Regulation of nuclear SMAD2/3 signaling
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Cross-References | |||||||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||
Entrez Gene | 5933 | ||||||||||||||||||||||||||
UniGene | Hs.207745 | ||||||||||||||||||||||||||
RefSeq | NM_002895 NM_183404 XM_006723842 | ||||||||||||||||||||||||||
HUGO | HGNC:9893 | ||||||||||||||||||||||||||
OMIM | 116957 | ||||||||||||||||||||||||||
CCDS | CCDS13289 CCDS13290 | ||||||||||||||||||||||||||
HPRD | 00312 | ||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||
EMBL | |||||||||||||||||||||||||||
GenPept | |||||||||||||||||||||||||||
RNA Seq Atlas | 5933 | ||||||||||||||||||||||||||