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RBL1 Gene

protein-coding   GIFtS: 64
GCID: GC20M035624

Retinoblastoma-Like 1

  See RBL1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Retinoblastoma-Like 11 2     Cellular Protein 1072
107 KDa Retinoblastoma-Associated Protein2 3     Retinoblastoma-Like 1 (P107)2
p1072 3     Retinoblastoma-Like Protein 12
CP1072 5     pRb13
PRB12     

External Ids:    HGNC: 98931   Entrez Gene: 59332   Ensembl: ENSG000000808397   OMIM: 1169575   UniProtKB: P287493   

Export aliases for RBL1 gene to outside databases

Previous GC identifers: GC20M035354 GC20M036264 GC20M036311 GC20M035059 GC20M032361


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RBL1 Gene:
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)

GeneCards Summary for RBL1 Gene:
RBL1 (retinoblastoma-like 1) is a protein-coding gene. Diseases associated with RBL1 include unilateral retinoblastoma, and bilateral retinoblastoma. GO annotations related to this gene include transcription factor binding. An important paralog of this gene is RB1.

UniProtKB/Swiss-Prot: RBL1_HUMAN, P28749
Function: Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining
overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone
methylation. Recruits and targets histone methyltransferases SUV420H1 and SUV420H2, leading to epigenetic
transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription
repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated
trans-activation. Forms a complex with adenovirus E1A and with SV40 large T antigen. May bind and modulate
functionally certain cellular proteins with which T and E1A compete for pocket binding. May act as a tumor
suppressor

Gene Wiki entry for RBL1 (Retinoblastoma-like protein 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RBL1 gene promoter:
         SRF   Sp1   p53   SRF (504 AA)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): RBL1 promoter sequence
   Search Chromatin IP Primers for RBL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.2   Ensembl cytogenetic band:  20q11.23   HGNC cytogenetic band: 20q11.23

RBL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBL1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M035624:  view genomic region     (about GC identifiers)

Start:
35,624,752 bp from pter      End:
35,724,410 bp from pter
Size:
99,659 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RBL1_HUMAN, P28749 (See protein sequence)
Recommended Name: Retinoblastoma-like protein 1  
Size: 1068 amino acids; 120847 Da
Subunit: Interacts with SUV420H1, SUV420H2 and USP4 (By similarity). Component of the DREAM complex (also named
LINC complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1
and TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent genes. It dissociates in
S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL2. Interacts with AATF. Interacts
with KDM5A. Interacts with SV40 and JC virus large T antigens
1 PDB 3D structure from and Proteopedia for RBL1:
1H28 (3D)    
Secondary accessions: A8K2W5 Q4VXA0 Q8N5K6 Q9H1L5 Q9H1M1
Alternative splicing: 2 isoforms:  P28749-1   P28749-2   

Explore the universe of human proteins at neXtProt for RBL1: NX_P28749

Explore proteomics data for RBL1 at MOPED

Post-translational modifications: 

  • Exists in both phosphorylated and unphosphorylated forms, and T, but not E1A, binds only to the unphosphorylated
    form. Cell-cycle arrest properties are inactivated by phosphorylation on Thr-332, Ser-640, Ser-964 and Ser-975 by
    CDK41
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RBL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_002886.2  NP_899662.1  

    ENSEMBL proteins: 
     ENSP00000362768   ENSP00000343646   ENSP00000434711   ENSP00000437240  
    Reactome Protein details: P28749

    RBL1 Human Recombinant Protein Products:

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    Novus Biologicals RBL1 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for RBL1

     
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    LSBio Antibodies in human, mouse, rat for RBL1

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    Cloud-Clone Corp. ELISAs for RBL1
    Cloud-Clone Corp. CLIAs for RBL1
    Search eBioscience for ELISAs for RBL1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR015030 RB_C
     IPR028309 RB_fam
     IPR013763 Cyclin-like
     IPR024599 RB_N
     IPR002720 RB_A

    Graphical View of Domain Structure for InterPro Entry P28749

    ProtoNet protein and cluster: P28749

    1 Blocks protein domain: IPB002720 Retinoblastoma-associated protein

    UniProtKB/Swiss-Prot: RBL1_HUMAN, P28749
    Similarity: Belongs to the retinoblastoma protein (RB) family


    Find genes that share domains with RBL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBL1_HUMAN, P28749
    Function: Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining
    overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone
    methylation. Recruits and targets histone methyltransferases SUV420H1 and SUV420H2, leading to epigenetic
    transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription
    repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated
    trans-activation. Forms a complex with adenovirus E1A and with SV40 large T antigen. May bind and modulate
    functionally certain cellular proteins with which T and E1A compete for pocket binding. May act as a tumor
    suppressor

         Genatlas biochemistry entry for RBL1:
    retinoblastoma product related protein,p107,involved in cell cycle regulation,interacting with transcription
    factor E2F-4 and with cyclin E/A-CDK2 complexes,may be altered in a limited subset of hematologic malignancies

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI1331501
    GO:0008134transcription factor binding IPI16360038
         
    Find genes that share ontologies with RBL1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for RBL1:
     Increased cell death in breast  Increased circadian period len  Upregulation of Wnt/beta-caten 

         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Rbl1) (see all 25):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

    Find genes that share phenotypes with RBL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for RBL1: Rbl1tm1Mru Rbl1tm1Tyj

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RBL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RBL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RBL1

    miRNA
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    miRTarBase miRNAs that target RBL1:
    hsa-mir-106b-5p (MIRT005866), hsa-mir-17-5p (MIRT005851), hsa-mir-20a-5p (MIRT005858)

    Block miRNA regulation of human, mouse, rat RBL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RBL1 (see all 32):
    hsa-miR-3130-5p hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-124 hsa-miR-372 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidRBL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RBL1
    Predesigned siRNA for gene silencing in human, mouse, rat RBL1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RBL1

    Clone
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    OriGene clones in human, mouse for RBL1 (see all 11)
    OriGene ORF clones in mouse, rat for RBL1
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    GenScript: all cDNA clones in your preferred vector (see all 2): RBL1 (NM_002895)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBL1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for RBL1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RBL1_HUMAN, P28749: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with RBL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RBL1 About   (see all 22)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    2E2F mediated regulation of DNA replication
    Mitotic G1-G1/S phases0.81
    G1 to S cell cycle control0.35
    3Loss of Function of SMAD2/3 in Cancer
    Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer0.72
    Signaling by TGF-beta Receptor Complex0.60
    SMAD2/SMAD3-SMAD4 heterotrimer regulates transcription0.72
    TGFBR1 KD Mutants in Cancer0.60
    Loss of Function of SMAD2/3 in Cancer0.60
    SMAD2/3 MH2 Domain Mutants in Cancer0.60
    Loss of Function of SMAD4 in Cancer0.60
    SMAD2/3 Phosphorylation Motif Mutants in Cancer0.60
    4Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90
    5Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40


    Find genes that share SuperPaths with RBL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RBL1
        Estrogen-mediated S-Phase Entry
    Molecular Mechanisms of Cancer
    Macrophage Differentiation and Growth Inhibition by METS

    2 GeneGo (Thomson Reuters) Pathways for RBL1
        Cell cycle Regulation of G1/S transition (part 2)
    Cell cycle Cell cycle (generic schema)

    Selected BioSystems Pathways for RBL1 (see all 9)
        Cell cycle
    Adipogenesis
    G1 to S cell cycle control
    TGF-beta Receptor Signaling Pathway
    Id Signaling Pathway

    3 Reactome Pathways for RBL1
        G0 and Early G1
    Cyclin D associated events in G1
    SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription


    3 Kegg Pathways  (Kegg details for RBL1):
        Cell cycle
    TGF-beta signaling pathway
    Viral carcinogenesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBL1: 
              Cell Cycle in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Stem Cell Signaling in human mouse rat
              Cellular Senescence in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RBL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RBL1 (P287491, 2, 3 ENSP000003627684) via UniProtKB, MINT, STRING, and/or I2D (see all 339)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=4 
    HIST1H4BP628053I2D: score=4 
    HIST1H4CP628053I2D: score=4 
    HIST1H4DP628053I2D: score=4 
    HIST1H4EP628053I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0000278mitotic cell cycle TAS--
    GO:0006351transcription, DNA-templated TAS--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--

    Find genes that share ontologies with RBL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RBL1

    Selected Novoseek inferred chemical compound relationships for RBL1 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    selenourea 67.4 3 7739537 (1), 11798183 (1)
    flavopiridol 53.1 2 10777774 (1), 9829756 (1)
    hpvs 50 3 9094616 (1), 16282477 (1), 20189212 (1)
    lactacystin 49.8 2 10534570 (1), 10086333 (1)
    dihydrofolate 38.8 1 9671466 (1)
    polypropylene glycol 37.7 1 16880778 (1)
    tgf beta1 16.2 5 11027571 (3), 10830731 (1)
    lovastatin 8.07 5 10534570 (2), 10086333 (2)
    serine 8 2 17155949 (1), 10086333 (1)
    calcium 1.16 1 10534570 (1)



    Find genes that share compounds with RBL1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RBL1 gene (2 alternative transcripts): 
    NM_002895.3  NM_183404.2  

    Unigene Cluster for RBL1:

    Retinoblastoma-like 1 (p107)
    Hs.207745  [show with all ESTs]
    Unigene Representative Sequence: NM_002895
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373664(uc002xgi.3 uc010gfv.1) ENST00000344359(uc002xgj.1)
    ENST00000525052 ENST00000527999
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    Block miRNA regulation of human, mouse, rat RBL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RBL1 (see all 32):
    hsa-miR-3130-5p hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-124 hsa-miR-372 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidRBL1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): RBL1 (NM_002895)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBL1
    Primer
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    OriGene qPCR primer pairs and template standards for RBL1
    OriGene qSTAR qPCR primer pairs in human, mouse for RBL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RBL1
      QuantiTect SYBR Green Assays in human, mouse, rat RBL1
      QuantiFast Probe-based Assays in human, mouse, rat RBL1

    Additional mRNA sequence: 

    AK290380.1 AK308096.1 AK310870.1 BC032247.1 L14812.1 M74547.1 

    7 DOTS entries:

    DT.110256  DT.100017267  DT.86853968  DT.407625  DT.91847200  DT.99962499  DT.102824824 

    2 AceView cDNA sequences:

    BC017557 BE882582 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RBL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATAAGGCAAG
    RBL1 Expression
    About this image


    RBL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle
             Cerebellum
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    RBL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.207745
        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBL1: 
              Cell Cycle in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Stem Cell Signaling in human mouse rat
              Cellular Senescence in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for RBL1
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    QuantiFast Probe-based Assays in human, mouse, rat RBL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RBL1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbl11 , 5 retinoblastoma-like 1 (p107)1, 5 87.61(n)1
    90.87(a)1
      2 (78.05 cM)5
    196501  NM_011249.21  NP_035379.21 
     1571458935 
    chicken
    (Gallus gallus)
    Aves RBL11 retinoblastoma-like 1 (p107) 75.54(n)
    80.54(a)
      419126  XM_417312.4  XP_417312.3 
    lizard
    (Anolis carolinensis)
    Reptilia RBL16
    retinoblastoma-like 1 (p107)
    76(a)
    1 ↔ 1
    4(135049892-135079292)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.70302 Transcribed sequence with moderate similarity to protein more 74.5(n)    BX746496.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AL925341.12   -- 73.14(n)    AL925341.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rbf3 negative regulation of cell
    proliferation DNA more
    32(a)   1C5   --
    worm
    (Caenorhabditis elegans)
    Secernentea lin-351 lin-35 45.37(n)
    31.72(a)
      172249  NM_059285.3  NP_491686.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RBR11 RBR1 44.26(n)
    29.76(a)
      820408  NM_112064.4  NP_566417.3 
    rice
    (Oryza sativa)
    Liliopsida Os11g05335001 Os11g0533500 42.49(n)
    30.03(a)
      4350648  NM_001074552.1  NP_001068020.1 


    ENSEMBL Gene Tree for RBL1 (if available)
    TreeFam Gene Tree for RBL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RBL1 gene
    RB12  RBL22  
    2 SIMAP similar genes for RBL1 using alignment to 4 protein entries:     RBL1_HUMAN (see all proteins):
    RBL2    DKFZp781K2028

    Find genes that share paralogs with RBL1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RBL1 (see all 2085)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs60313971,2
    H--32460767(+) ATGAAG/AGTTGT 2 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs1814067231,2
    --35625714(+) GAGTAC/TTCAGT 1 -- ds50010--------
    rs1125552641,2
    C,F--35625736(+) CATCCC/ATAGTA 1 -- ds50012Minor allele frequency- A:0.03CSA WA 120
    rs60306531,2
    C,F--35625886(+) CTATTT/ATACTG 1 -- ds50011Minor allele frequency- A:0.00NA 2
    rs1125443311,2
    C--35625917(+) TTATG-/AGGCAT 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1857691951,2
    --35625930(+) GATGAC/TATTTA 1 -- ds50010--------
    rs736216901,2
    C--35626029(+) CACAT-/AAATCA 1 -- ds50010--------
    rs593936651,2
    C--35626031(+) CATAA-/ATCATG 1 -- ds50010--------
    rs81205991,2
    C,F,H--35626055(+) AATAGG/AAATTT 1 -- ds5001 ese39Minor allele frequency- A:0.02NS NA WA 1482
    rs1161628131,2
    C,F--35626250(+) AGGGCT/CGGAAA 1 -- ut311Minor allele frequency- C:0.04WA 118

    HapMap Linkage Disequilibrium report for RBL1 (35624752 - 35724410 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for RBL1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBL1
    DNA2.0 Custom Variant and Variant Library Synthesis for RBL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 116957    OMIM disorders: --

    3 diseases for RBL1:    
    About MalaCards
    unilateral retinoblastoma    bilateral retinoblastoma    retinoblastoma


    Find genes that share disorders with RBL1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for RBL1 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 93.8 153 7791762 (3), 9256285 (3), 11260068 (2), 7935440 (2) (see all 99)
    tumors 51.1 69 17486638 (3), 15867222 (3), 19951992 (2), 9192669 (2) (see all 49)
    osteosarcoma 36.7 4 8621601 (1), 11152455 (1), 10906146 (1), 1829750 (1)
    myeloid leukemia 33.2 2 8230483 (1), 18294958 (1)
    cancer 28.6 9 19887614 (2), 15193252 (1), 8143345 (1), 9271426 (1) (see all 8)
    cervical intraepithelial neoplasia 15.7 2 16835319 (1), 16158962 (1)
    mesothelioma 12.3 3 9256285 (2), 11030152 (1)
    carcinoma embryonal 10.6 1 7685208 (1)
    papilloma 8.23 1 9192669 (1)
    cervical carcinoma 6.63 1 8319904 (1)

    Genetic Association Database (GAD): RBL1
    Human Genome Epidemiology (HuGE) Navigator: RBL1 (5 documents)

    Export disorders for RBL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RBL1 gene, integrated from 10 sources (see all 374):
    (articles sorted by number of sources associating them with RBL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, chromosomal mapping, and expression of the cDNA for p107, a retinoblastoma gene product-related protein. (PubMed id 1833063)1, 2, 3, 9 Ewen M.E.... Livingston D.M. (Cell 1991)
    2. Reversal of growth suppression by p107 via direct phosphorylation by cyclin D1/cyclin-dependent kinase 4. (PubMed id 11884610)1, 2, 9 Leng X.... Harper J.W. (Mol. Cell. Biol. 2002)
    3. Inhibition of cell proliferation by p107, a relative of the retinoblastoma protein. (PubMed id 8319904)1, 2, 9 Zhu L.... Harlow E. (Genes Dev. 1993)
    4. Differential roles of two tandem E2F sites in repression of the human p107 promoter by retinoblastoma and p107 proteins. (PubMed id 7791762)1, 2, 9 Zhu L.... Chang L.S. (Mol. Cell. Biol. 1995)
    5. Differential specificity for binding of retinoblastoma binding protein 2 to RB, p107, and TATA-binding protein. (PubMed id 7935440)1, 2, 9 Kim Y.W.... Kaye F.J. (Mol. Cell. Biol. 1994)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    8. Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis. (PubMed id 19738611)1, 4 Cunningham J.M....Goode E.L. (Br. J. Cancer 2009)
    9. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    10. LINC, a human complex that is related to pRB-containing complexes in invertebrates regulates the expression of G2/M genes. (PubMed id 17671431)1, 2 Schmit F.... Gaubatz S. (Cell Cycle 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5933 HGNC: 9893 AceView: RBL1.1 Ensembl:ENSG00000080839 euGenes: HUgn5933
    ECgene: RBL1 Kegg: 5933 H-InvDB: RBL1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RBL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RBL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for RBL1 gene:
    Search GeneIP for patents involving RBL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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