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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RBL1 Gene

protein-coding   GIFtS: 64
GCID: GC20M035624

Retinoblastoma-Like 1 (P107)

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Retinoblastoma-Like 1 (P107)1 2     PRB12
107 KDa Retinoblastoma-Associated Protein2 3     Cellular Protein 1072
p1072 3     Retinoblastoma-Like Protein 12
CP1072 5     pRb13

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (p107)) is a protein-coding gene. Diseases associated with RBL1 include bilateral retinoblastoma, and retinoblastoma, and among its related super-pathways are Cell cycle Cell cycle (generic schema) and Cell cycle. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RBL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus (Potential)
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:

  • UniProtKB: 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
    CDK4
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P28749

  • RBL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RBL1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_002886.2  NP_899662.1  

    ENSEMBL proteins: 
     ENSP00000362768   ENSP00000343646   ENSP00000434711   ENSP00000437240  
    Reactome Protein details: P28749
    Human Recombinant Protein Products for RBL1: 
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    Novus Biologicals RBL1 Protein
    Novus Biologicals RBL1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RBL1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--

    RBL1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR015030 Rb_C
     IPR013763 Cyclin-like
     IPR024599 DUF3452_retinoblatoma-assoc
     IPR002720 RB_A
     IPR002719 RB_B

    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


    RBL1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI1331501
    GO:0008134transcription factor binding IPI16360038
         
    RBL1 for ontologies           About GeneDecksing


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

         15/25 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  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

    RBL1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RBL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RBL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBL1 
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RBL1
    8/32 QIAGEN miScript miRNA 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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBL1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RBL1 About   (see all 20)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell cycle Cell cycle (generic schema)
    Cell cycle Cell cycle (generic schema)0.38
    G0 and Early G10.31
    Cell cycle Regulation of G1/S transition (part 2)0.38
    2Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    3Mitotic G1-G1/S phases
    Mitotic G1-G1/S phases0.80
    G1 to S cell cycle control0.36
    4Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
    Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer0.63
    Signaling by TGF-beta Receptor Complex0.61
    SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription0.63
    5Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for RBL1
        Cell cycle Regulation of G1/S transition (part 2)
    Cell cycle Cell cycle (generic schema)

    3 Downloadable PowerPoint Slides of QIAGEN 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)

    5/9 BioSystems Pathways for RBL1 (see all 9)
        Cell cycle
    G1 to S cell cycle control
    Adipogenesis
    TGF-beta Receptor Signaling Pathway
    Id Signaling Pathway

    5/12        Reactome Pathways for RBL1 (see all 12)
        G1 Phase
    Generic Transcription Pathway
    Mitotic G1-G1/S phases
    Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
    G0 and Early G1


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


    RBL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RBL1

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

    5/311 Interacting proteins for RBL1 (P287491, 2, 3 ENSP000003627684) via UniProtKB, MINT, STRING, and/or I2D (see all 311)
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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-dependent TAS--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0007179transforming growth factor beta receptor signaling pathway TAS--

    RBL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RBL1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RBL1

    10/18 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)

    Search CenterWatch for drugs/clinical trials and news about RBL1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate RBL1 (see all 32):
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    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RBL1 expression in normal human tissues (normalized intensities)      RBL1 embryonic expression: see
    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 
     5/1 selected tissues (see all 1) fully expand
     
     Brain (Nervous System)
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle

    See RBL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBL1

    SOURCE GeneReport for Unigene cluster: Hs.207745
        SABiosciences Expression via Pathway-Focused 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

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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RBL1 gene from 9/15 species (see all 15)    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) 75.48(n)
    80.5(a)
      419126  XM_417312.3  XP_417312.3 
    lizard
    (Anolis carolinensis)
    Reptilia RBL16
    retinoblastoma-like 1 (p107)
    77(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 Protein LIN-35 43.8(n)
    28.36(a)
      172249  NM_059285.2  NP_491686.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RBR11 Retinoblastoma-related protein 1 44.17(n)
    29.68(a)
      820408  NM_112064.4  NP_566417.3 
    rice
    (Oryza sativa)
    Liliopsida Os11g05335001 hypothetical protein 42.81(n)
    29.89(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)
    About This Section
    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

    RBL1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2085 SNPs in RBL1 are shown (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: --
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 116957    OMIM disorders: --

    20/38 diseases for RBL1 (see all 38):    About MalaCards
    bilateral retinoblastoma    retinoblastoma    cervical intraepithelial neoplasia    cervicitis
    papillary carcinoma    papilloma    noma    burkitt's lymphoma
    osteosarcoma    choroiditis    lung cancer    medulloblastoma
    glioblastoma    esophageal adenocarcinoma    esophageal cancer    intrahepatic cholangiocarcinoma
    cholangiocarcinoma    b-cell lymphomas    astrocytoma    prostatitis


    RBL1 for disorders           About GeneDecksing

    10/23 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)
    About This Section

    PubMed articles for RBL1 gene, integrated from 9 sources (see all 372):
    (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. (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. (2002)
    3. Inhibition of cell proliferation by p107, a relative of the retinoblastoma protein. (PubMed id 8319904)1, 2, 9 Zhu L.... Harlow E. (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. (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. (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. (2010)
    7. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    8. Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis. (PubMed id 19738611)1, 4 Cunningham J.M....Fridley B.L. (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. (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. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    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
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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