Human Gene RBL1 (ENST00000373664.8_7) from GENCODE V47lift37
  Description: RB transcriptional corepressor like 1, transcript variant 1 (from RefSeq NM_002895.5)
Gencode Transcript: ENST00000373664.8_7
Gencode Gene: ENSG00000080839.12_10
Transcript (Including UTRs)
   Position: hg19 chr20:35,624,752-35,724,400 Size: 99,649 Total Exon Count: 22 Strand: -
Coding Region
   Position: hg19 chr20:35,627,162-35,724,331 Size: 97,170 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:35,624,752-35,724,400)mRNA (may differ from genome)Protein (1068 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RBL1_HUMAN
DESCRIPTION: RecName: Full=Retinoblastoma-like protein 1; AltName: Full=107 kDa retinoblastoma-associated protein; Short=p107; AltName: Full=pRb1;
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.
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.
INTERACTION: Q9BUH8:BEGAIN; NbExp=2; IntAct=EBI-971402, EBI-742722; P11802:CDK4; NbExp=2; IntAct=EBI-971402, EBI-295644; Q13574-2:DGKZ; NbExp=2; IntAct=EBI-971402, EBI-715527; Q14653:IRF3; NbExp=2; IntAct=EBI-971402, EBI-2650369; P24610:Pax3 (xeno); NbExp=3; IntAct=EBI-971402, EBI-1208116; Q923E4:Sirt1 (xeno); NbExp=2; IntAct=EBI-971402, EBI-1802585;
SUBCELLULAR LOCATION: Nucleus (Potential).
PTM: 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.
SIMILARITY: Belongs to the retinoblastoma protein (RB) family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RBL1
Diseases sorted by gene-association score: retinoblastoma (75), bilateral retinoblastoma (16), retinal cancer (14), sensory system cancer (14), unilateral retinoblastoma (12), ocular cancer (9), nervous system cancer (6), intraocular retinoblastoma (6), cervical intraepithelial neoplasia (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • D014635 Valproic Acid
  • C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene
  • C085911 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one
  • C027576 4-hydroxy-2-nonenal
  • C107875 6-(methylamino)pyrido(3,4-d)pyrimidine
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • C553817 7-(benzylamino)-1,3,4,8-tetrahydropyrrolo(4,3,2-de)quinolin-8(1H)-one
  • C547126 AZM551248
  • D000082 Acetaminophen
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.48 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 67.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -30.9069-0.448 Picture PostScript Text
3' UTR -633.502410-0.263 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013763 - Cyclin-like
IPR024599 - DUF3452_retinoblatoma-assoc
IPR002720 - RB_A
IPR002719 - RB_B
IPR015030 - Rb_C

Pfam Domains:
PF01857 - Retinoblastoma-associated protein B domain
PF01858 - Retinoblastoma-associated protein A domain
PF08934 - Rb C-terminal domain
PF11934 - Domain of unknown function (DUF3452)

SCOP Domains:
47954 - Cyclin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1H28 - X-ray


ModBase Predicted Comparative 3D Structure on P28749
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:1990841 promoter-specific chromatin binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007049 cell cycle
GO:0010629 negative regulation of gene expression
GO:0016032 viral process
GO:0043550 regulation of lipid kinase activity
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051726 regulation of cell cycle
GO:2000773 negative regulation of cellular senescence

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  AK308096 - Homo sapiens cDNA, FLJ98044.
LF383761 - JP 2014500723-A/191264: Polycomb-Associated Non-Coding RNAs.
L14812 - Human retinoblastoma related protein (p107) mRNA, complete cds.
AK290380 - Homo sapiens cDNA FLJ76705 complete cds, highly similar to Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.
M74547 - H.sapiens retinoblastoma related protein (p107) mRNA, 3' end.
AB384850 - Synthetic construct DNA, clone: pF1KB3761, Homo sapiens RBL1 gene for retinoblastoma-like protein 1, complete cds, without stop codon, in Flexi system.
BC032247 - Homo sapiens retinoblastoma-like 1 (p107), mRNA (cDNA clone MGC:40006 IMAGE:4521266), complete cds.
KJ904546 - Synthetic construct Homo sapiens clone ccsbBroadEn_13940 RBL1-like gene, encodes complete protein.
DQ890612 - Synthetic construct clone IMAGE:100003242; FLH169170.01X; RZPDo839H0394D retinoblastoma-like 1 (p107) (RBL1) gene, encodes complete protein.
DQ893783 - Synthetic construct Homo sapiens clone IMAGE:100008243; FLH169166.01L; RZPDo839H0393D retinoblastoma-like 1 (p107) (RBL1) gene, encodes complete protein.
MA619338 - JP 2018138019-A/191264: Polycomb-Associated Non-Coding RNAs.
JD510880 - Sequence 491904 from Patent EP1572962.
JD286921 - Sequence 267945 from Patent EP1572962.
JD116903 - Sequence 97927 from Patent EP1572962.
JD138613 - Sequence 119637 from Patent EP1572962.
JD534769 - Sequence 515793 from Patent EP1572962.
JD447369 - Sequence 428393 from Patent EP1572962.
JD141773 - Sequence 122797 from Patent EP1572962.
JD041214 - Sequence 22238 from Patent EP1572962.
JD169178 - Sequence 150202 from Patent EP1572962.
JD529106 - Sequence 510130 from Patent EP1572962.
JD430124 - Sequence 411148 from Patent EP1572962.
JD455198 - Sequence 436222 from Patent EP1572962.
JD201253 - Sequence 182277 from Patent EP1572962.
JD457078 - Sequence 438102 from Patent EP1572962.
JD041213 - Sequence 22237 from Patent EP1572962.
JD559650 - Sequence 540674 from Patent EP1572962.
JD169176 - Sequence 150200 from Patent EP1572962.
JD092491 - Sequence 73515 from Patent EP1572962.
JD481568 - Sequence 462592 from Patent EP1572962.
JD514908 - Sequence 495932 from Patent EP1572962.
JD294104 - Sequence 275128 from Patent EP1572962.
JD421421 - Sequence 402445 from Patent EP1572962.
JD145388 - Sequence 126412 from Patent EP1572962.
JD199434 - Sequence 180458 from Patent EP1572962.
JD106660 - Sequence 87684 from Patent EP1572962.
JD186525 - Sequence 167549 from Patent EP1572962.
JD286026 - Sequence 267050 from Patent EP1572962.
JD246972 - Sequence 227996 from Patent EP1572962.
JD429246 - Sequence 410270 from Patent EP1572962.
JD413417 - Sequence 394441 from Patent EP1572962.
JD198117 - Sequence 179141 from Patent EP1572962.
JD212728 - Sequence 193752 from Patent EP1572962.
JD542750 - Sequence 523774 from Patent EP1572962.
JD537334 - Sequence 518358 from Patent EP1572962.
JD537333 - Sequence 518357 from Patent EP1572962.
JD551555 - Sequence 532579 from Patent EP1572962.
JD375534 - Sequence 356558 from Patent EP1572962.
AK310870 - Homo sapiens cDNA, FLJ17912.
CU689312 - Synthetic construct Homo sapiens gateway clone IMAGE:100017880 5' read RBL1 mRNA.
JD461775 - Sequence 442799 from Patent EP1572962.
JD406841 - Sequence 387865 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_cellcyclePathway - Cyclins and Cell Cycle Regulation
h_etsPathway - METS affect on Macrophage Differentiation

Reactome (by CSHL, EBI, and GO)

Protein P28749 (Reactome details) participates in the following event(s):

R-HSA-1363314 p107 (RBL1) binds CyclinE/A:CDK2
R-HSA-1363274 Dephosphorylation of p107 (RBL1) by PP2A
R-HSA-1226095 Cyclin D:CDK4/6 mediated phosphorylation of p107 (RBL1) and dissociation of phosphorylated p107 (p-RBL1) from DP1:E2F4 complex
R-HSA-1227671 Recruitment of HDAC1 by p107 (RBL1)
R-HSA-1363311 p107 (RBL1) in complex with E2F4:DP1/2 binds to cyclin E/A:CDK2
R-HSA-2127257 SMAD2/3:SMAD4 heterotrimer forms a complex with RBL1, E2F4/5 and DP1/2
R-HSA-6798282 TP53 and E2F4 bind the CDC25C gene
R-HSA-8964550 The complex of HDAC1, RBL1 and E2F4 or HDAC1, RBL2, E2F4 or E2F5 binds E2F1 gene promoter
R-HSA-8964561 The complex of HDAC1, RBL1 and E2F4 or HDAC1, RBL2, E2F4 or E2F5 binds MYBL2 gene promoter
R-HSA-8964567 The complex of HDAC1, RBL1 and E2F4 or HDAC1, RBL2, E2F4 or E2F5 binds CDK1 gene promoter
R-HSA-8964580 The complex of HDAC1, RBL1 and E2F4 or HDAC1, RBL2, E2F4 or E2F5 binds CCNA2 gene promoter
R-HSA-1538133 G0 and Early G1
R-HSA-69231 Cyclin D associated events in G1
R-HSA-1362277 Transcription of E2F targets under negative control by DREAM complex
R-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
R-HSA-453279 Mitotic G1-G1/S phases
R-HSA-69236 G1 Phase
R-HSA-2173793 Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
R-HSA-6804114 TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1362300 Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1
R-HSA-170834 Signaling by TGF-beta Receptor Complex
R-HSA-212436 Generic Transcription Pathway
R-HSA-6791312 TP53 Regulates Transcription of Cell Cycle Genes
R-HSA-1640170 Cell Cycle
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-162582 Signal Transduction
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2W5, ENST00000373664.1, ENST00000373664.2, ENST00000373664.3, ENST00000373664.4, ENST00000373664.5, ENST00000373664.6, ENST00000373664.7, NM_002895, P28749, Q4VXA0, Q8N5K6, Q9H1L5, Q9H1M1, RBL1_HUMAN, uc318kyo.1, uc318kyo.2
UCSC ID: ENST00000373664.8_7
RefSeq Accession: NM_002895.5
Protein: P28749 (aka RBL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.