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    RBL1 retinoblastoma-like 1 (p107) [ Homo sapiens ]

    Gene ID: 5933, updated on 11-May-2012

    Summary

    Official Symbol
    RBL1provided by HGNC
    Official Full Name
    retinoblastoma-like 1 (p107)provided by HGNC
    Primary source
    HGNC:9893
    Locus tag
    RP11-382A12.1
    See related
    Ensembl:ENSG00000080839; HPRD:00312; MIM:116957; Vega:OTTHUMG00000032406
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRB1; p107; CP107; MGC40006
    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]

    Genomic context

    Location :
    20q11.2
    Sequence :
    Chromosome: 20; NC_000020.10 (35626178..35724410, complement)
    See RBL1 in Epigenomics, MapViewer

    Chromosome 20 - NC_000020.10Genomic Context describing neighboring genes Neighboring gene suppressor of glucose, autophagy associated 1 Neighboring gene chromosome 20 open reading frame 118 Neighboring gene SAM domain and HD domain 1 Neighboring gene ribosomal protein S3A pseudogene 3 Neighboring gene ribosomal protein S27a pseudogene 3 Neighboring gene uncharacterized LOC100288869 Neighboring gene chromosome 20 open reading frame 132 Neighboring gene ribosomal protein L13 pseudogene Neighboring gene ribophorin II

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NC_000011.8 NP_000312.1 RB1    BIND  PubMed Rb interacts with the p107 promoter. 
    NC_000020.9 NP_005216.1 E2F1    BIND  PubMed E2F1 interacts with the p107 promoter region. 
    NC_000020.9 NP_004082.1 E2F2    BIND  PubMed E2F2 interacts with the p107 promoter region. 
    NC_000020.9 NP_001941.2 E2F4    BIND  PubMed E2F4 interacts with the p107 promoter region. 
    NC_000020.9 NP_005602.2 RBL2    BIND  PubMed p130 interacts with the p107 promoter region. 
    NP_002886.2 NP_001941.2 E2F4    BIND  PubMed p107 interacts with E2F4. 
    P28749 Brain enriched guanylate kinase associated protein BEGAIN    HPRD  PubMed  
    P28749 Q92994 BRF1    HPRD  PubMed  
    P28749 P78396 CCNA1    HPRD  PubMed  
    P28749 P20248 CCNA2    HPRD  PubMed  
    P28749 P24385 CCND1    HPRD  PubMed  
    P28749 P24864 CCNE1    HPRD  PubMed  
    P28749 P24941 CDK2    HPRD  PubMed  
    P28749 P11802 CDK4    HPRD  PubMed  
    P28749 P49715 CEBPA    HPRD  PubMed  
    P28749 O75629 CREG1    HPRD  PubMed  
    P28749 Q13574 DGKZ    HPRD  PubMed  
    P28749 Q7L2E3 DHX30    HPRD  PubMed  
    P28749 Q16254 E2F4    HPRD  PubMed  
    P28749 Q15329 E2F5    HPRD  PubMed  
    P28749 Q13547 HDAC1    HPRD  PubMed  
    P28749 Q02363 ID2    HPRD  PubMed  
    P28749 P29375 KDM5A    HPRD  PubMed  
    P28749 P33993 MCM7    HPRD  PubMed  
    P28749 P10244 MYBL2    HPRD  PubMed  
    P28749 P01106 MYC    HPRD  PubMed  
    P28749 Q9Y5X4 NR2E3    HPRD  PubMed  
    P28749 P35232 PHB    HPRD  PubMed  
    P28749 Q06190 PPP2R3A    HPRD  PubMed  
    P28749 Q99708 RBBP8    HPRD  PubMed  
    P28749 O75884 RBBP9    HPRD  PubMed  
    P28749 P28749 RBL1    HPRD  PubMed  
    P28749 Q15796 SMAD2    HPRD  PubMed  
    P28749 P84022 SMAD3    HPRD  PubMed  
    P28749 Q13485 SMAD4    HPRD  PubMed  
    P28749 Q13573 SNW1    HPRD  PubMed  
    P28749 P08047 SP1    HPRD  PubMed  
    P28749 O43463 SUV39H1    HPRD  PubMed  
    P28749 Q9BRZ6 SUV420H2    HPRD  PubMed  
    P28749 P21675 TAF1    HPRD  PubMed  
    P28749 Q13107 USP4    HPRD  PubMed  
    BioGRID:111868 BioGRID:117743 AATF    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:111861 ARID4A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:121647 BEGAIN    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111868 BioGRID:107140 BRCA1    BioGRID  PubMed Co-localization; Reconstituted Complex 
    BioGRID:111868 BioGRID:109227 BRF1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111868 BioGRID:114417 CCNA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111868 BioGRID:107331 CCNA2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111868 BioGRID:107338 CCNE1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:107452 CDK2    BioGRID  PubMed Biochemical Activity 
    BioGRID:111868 BioGRID:107462 CDKN1C    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:114332 CREG1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111868 BioGRID:116571 DHX30    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111868 BioGRID:108201 E2F1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111868 BioGRID:108203 E2F3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:108206 E2F4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:108207 E2F5    BioGRID  PubMed Two-hybrid 
    BioGRID:111868 BioGRID:108325 EMD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111868 BioGRID:109315 HDAC1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111868 BioGRID:109316 HDAC2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:114368 HDAC3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:109869 IRF3    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:111868 BioGRID:111862 KDM5A    BioGRID  PubMed Reconstituted Complex 
    AAH65302.1 LIN9    BIND  PubMed hMip130/TWIT interacts with p107. 
    BioGRID:111868 BioGRID:111583 MAPK6    BioGRID  PubMed Two-hybrid 
    BAA09534.1 MCM7    BIND  PubMed MCM7 interacts with p107. 
    BioGRID:111868 BioGRID:110344 MCM7    BioGRID  PubMed Reconstituted Complex 
    J03910.1 MT1G    BIND  PubMed RBL1 (P107) interacts with the MT1G promoter. 
    BioGRID:111868 BioGRID:110690 MYBL2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111868 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:115320 NR2E3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:111264 PHB    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111868 BioGRID:111515 PPP2R3A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:111860 RB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:111867 RBBP8    BioGRID  PubMed Two-hybrid 
    BioGRID:111868 BioGRID:115964 RBBP9    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:111869 RBL2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:110263 SMAD3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111868 BioGRID:110264 SMAD4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:116597 SNW1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111868 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111868 BioGRID:112496 SUMO3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111868 BioGRID:112706 SUV39H1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:112735 TAF1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:112885 TFDP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:112887 TFDP2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111868 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111868 BioGRID:113221 USP4    BioGRID  PubMed Reconstituted Complex 
    NC_000023.8 UXT    BIND  PubMed p107 interacts with the UXT chromatin. 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Cell cycle, organism-specific biosystem (from WikiPathways)
      Cell cycle, organism-specific biosystem(From http://en.wikipedia.org/wiki/Cell_cycle) The cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle in...
    • Cell cycle, organism-specific biosystem (from KEGG)
      Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cell cycle, conserved biosystem (from KEGG)
      Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cyclin D associated events in G1, organism-specific biosystem (from REACTOME)
      Cyclin D associated events in G1, organism-specific biosystemThree D-type cyclins are essential for progression from G1 to S-phase. These D cyclins bind to and activate both CDK4 and CDK6. The formation of all possible complexes between the D-type cyclins and...
    • E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      E2F transcription factor network, organism-specific biosystem
      E2F transcription factor network
    • G0 and Early G1, organism-specific biosystem (from REACTOME)
      G0 and Early G1, organism-specific biosystemIn G0 and early G1 in quiescent cells, p130 (RBL2) bound to E2F4 or E2F5 and either DP1 or DP2, associates with the MuvB complex, forming an evolutionarily conserved DREAM complex, that represses tra...
    • G1 Phase, organism-specific biosystem (from REACTOME)
      G1 Phase, organism-specific biosystemEarly cell cycle progression in G1 is under the control of the D-type cyclins together with Cdk4 and Cdk6. An important target for these CDKs is the Retinoblastoma (Rb) protein, which when phosphoryl...
    • G1 to S cell cycle control, organism-specific biosystem (from WikiPathways)
      G1 to S cell cycle control, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding C...
    • Id Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Id Signaling Pathway, organism-specific biosystemInhibitor of DNA binding (ID) proteins are members of the helix-loop-helix (HLH) family of proteins which lack a DNA binding domain themselves but bind to other family members inhibiting their DNA bi...
    • Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
      Mitotic G1-G1/S phases, organism-specific biosystem
      Mitotic G1-G1/S phases
    • Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem
      Regulation of nuclear SMAD2/3 signaling
    • TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling Pathway, organism-specific biosystem"The TGF beta receptors TGFBR1 and TGFBR2 belong to a subfamily of membrane-bound serine/threonine kinases which are designated as Type I or II based on their structural and functional properties. Th...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional repression, organism-specific biosystem
      Validated targets of C-MYC transcriptional repression

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
     
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    G1 phase of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    interspecies interaction between organisms IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of lipid kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    retinoblastoma-like protein 1
    Names
    retinoblastoma-like protein 1
    cellular protein 107
    107 kDa retinoblastoma-associated protein

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002895.2NP_002886.2  retinoblastoma-like protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      CB115117, L14812, S78664
      Consensus CDS
      CCDS13289.1
      UniProtKB/Swiss-Prot
      P28749
      Related
      ENSP00000362768, OTTHUMP00000030892, ENST00000373664, OTTHUMT00000079067
      Conserved Domains (4) summary
      pfam08934
      Location:9611046
      Blast Score: 121
      Rb_C; Rb C-terminal domain
      pfam11934
      Location:70212
      Blast Score: 482
      DUF3452; Domain of unknown function (DUF3452)
      pfam01858
      Location:385578
      Blast Score: 733
      RB_A; Retinoblastoma-associated protein A domain
      cl00050
      Location:786944
      Blast Score: 521
      CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...
    2. NM_183404.1NP_899662.1  retinoblastoma-like protein 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC032247, S78664
      Consensus CDS
      CCDS13290.1
      UniProtKB/Swiss-Prot
      P28749
      Related
      ENSP00000343646, OTTHUMP00000030893, ENST00000344359, OTTHUMT00000079068
      Conserved Domains (4) summary
      pfam08934
      Location:9611003
      Blast Score: 103
      Rb_C; Rb C-terminal domain
      pfam11934
      Location:70212
      Blast Score: 481
      DUF3452; Domain of unknown function (DUF3452)
      pfam01858
      Location:385578
      Blast Score: 733
      RB_A; Retinoblastoma-associated protein A domain
      cl00050
      Location:786944
      Blast Score: 522
      CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000020.10 Reference GRCh37.p5 Primary Assembly

      Range
      35626178..35724410, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000152.1 Alternate HuRef

      Range
      32361862..32458770, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL136172.16 CAI95716.1
      CAI95717.1
    genomic AL365505.15 CAI95177.1
      CAI95178.1
    genomic AL391114.12 CAI95151.1
      CAI95152.1
    genomic CH471077.2 EAW76088.1
      EAW76089.1
    genomic S78664.1 AAD14290.1
    mRNA AK290380.1 BAF83069.1
    mRNA AK308096.1 None
    mRNA AK310870.1 None
    mRNA BC032247.1 AAH32247.1
    mRNA CB115117.1 None
    mRNA L14812.1 AAA02489.1
    mRNA M74547.1 AAA36397.1
    other-genetic DQ890612.2 ABM92229.1
    other-genetic DQ893783.2 ABM84709.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P28749.3 GenPept UniProtKB/Swiss-Prot:P28749

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