Homo sapiens Gene: RBL1
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)
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:36996349-37095995
Strand Reverse strand
Band q11.23
Transcripts
ENST00000373664 ENSP00000362768
ENST00000344359 ENSP00000343646
ENST00000525052 ENSP00000434711
ENST00000527999 ENSP00000437240
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.
Experimentally validated
Total 124 [view]
Protein-Protein 103 [view]
Protein-DNA 21 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008134 transcription factor binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000278 mitotic cell cycle
GO:0006351 transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0007049 cell cycle
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0010467 gene expression
GO:0016032 viral process
GO:0016568 chromatin modification
GO:0043550 regulation of lipid kinase activity
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051726 regulation of cell cycle
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
ID pathway
TGF_beta_Receptor pathway
REACTOME
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription 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
Cyclin D associated events in G1 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
Generic Transcription Pathway pathway
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
G0 and Early G1 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
KEGG
Cell cycle pathway
TGF-beta signaling pathway pathway
INOH
PID BIOCARTA
Mets affect on macrophage differentiation [Biocarta view]
Cyclins and cell cycle regulation [Biocarta view]
PID NCI
Validated targets of C-MYC transcriptional repression
E2F transcription factor network
Regulation of nuclear SMAD2/3 signaling
Cross-References
SwissProt
TrEMBL E9PNB6
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 AL136172 AL365505 AL391114
GenPept
RNA Seq Atlas 5933