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 pro... See more...

Aliases for RBL1 Gene

Aliases for RBL1 Gene

  • RB Transcriptional Corepressor Like 1 2 3 5
  • 107 KDa Retinoblastoma-Associated Protein 3 4
  • Retinoblastoma-Like Protein 1 3 4
  • Retinoblastoma-Like 1 2 3
  • P107 3 4
  • CP107 3
  • PRB1 3
  • PRb1 4

External Ids for RBL1 Gene

Previous GeneCards Identifiers for RBL1 Gene

  • GC20M035354
  • GC20M036264
  • GC20M036311
  • GC20M035059
  • GC20M035624
  • GC20M032361

Summaries for RBL1 Gene

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 (RB Transcriptional Corepressor Like 1) is a Protein Coding gene. Diseases associated with RBL1 include Retinoblastoma and Bilateral Retinoblastoma. Among its related pathways are Regulation of TP53 Activity and Mitotic G1-G1/S phases. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is RBL2.

UniProtKB/Swiss-Prot Summary for RBL1 Gene

  • Key regulator of entry into cell division (PubMed:17671431). Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation (By similarity). Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression (By similarity). Controls histone H4 'Lys-20' trimethylation (By similarity). Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters (By similarity). Potent inhibitor of E2F-mediated trans-activation (PubMed:8319904). May act as a tumor suppressor (PubMed:8319904).

Gene Wiki entry for RBL1 Gene

Additional gene information for RBL1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBL1 Gene

Genomics for RBL1 Gene

GeneHancer (GH) Regulatory Elements for RBL1 Gene

Promoters and enhancers for RBL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J037093 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 781.8 +0.5 544 2.9 E2F8 ZNF785 SIN3A ZBTB40 CTCF SIX5 ZBTB6 MLX RBPJ POLR2A RBL1 ENSG00000269846 AAR2 DSN1 SOGA1 RPN2 CTNNBL1 LINC00489 MROH8 TLDC2
GH20J036854 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 72.1 +236.8 236844 11.7 SIN3A ZNF24 ZBTB40 CTCF SMARCE1 RBPJ POLR2A CTBP1 ZNF217 TRIM22 RBL1 AAR2 RPN2 SOGA1 TGIF2 TLDC2 DSN1 NDRG3 DLGAP4-AS1 MANBAL
GH20J036604 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 40.4 +489.3 489335 4.7 SP1 ZBTB40 CTCF LCORL FOXA1 MLX SMARCE1 RBPJ POLR2A NR2F1 RAB5IF lnc-SLA2-1 RBM12 RBL1 RBM39 AAR2 CPNE1 RPN2 TGIF2 TLDC2
GH20J037177 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 39.6 -83.4 -83401 4 SIN3A ZBTB40 SP1 CTCF SREBF1 SIX5 ZBTB6 MLX SMARCE1 RBPJ MROH8 RPN2 RBL1 TTI1 CTNNBL1 AAR2 DSN1 DLGAP4-AS1 SLA2 RF00017-3576
GH20J036923 Enhancer 1.1 Ensembl dbSUPER 61.3 +170.0 169999 4.8 ZBTB40 MLX RBPJ SMARCE1 NR2F1 NR2F6 ATF1 TRIM22 MIXL1 CC2D1A RBL1 AAR2 CTNNBL1 RPN2 DSN1 MYL9 MANBAL SLA2 SAMHD1 MROH8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RBL1 gene promoter:
  • p53
  • Sp1
  • SRF
  • SRF (504 AA)

Genomic Locations for RBL1 Gene

Genomic Locations for RBL1 Gene
chr20:36,996,349-37,096,000
(GRCh38/hg38)
Size:
99,652 bases
Orientation:
Minus strand
chr20:35,624,752-35,724,410
(GRCh37/hg19)
Size:
99,659 bases
Orientation:
Minus strand

Genomic View for RBL1 Gene

Genes around RBL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBL1 Gene

Proteins for RBL1 Gene

  • Protein details for RBL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28749-RBL1_HUMAN
    Recommended name:
    Retinoblastoma-like protein 1
    Protein Accession:
    P28749
    Secondary Accessions:
    • A8K2W5
    • Q4VXA0
    • Q8N5K6
    • Q9H1L5
    • Q9H1M1

    Protein attributes for RBL1 Gene

    Size:
    1068 amino acids
    Molecular mass:
    120847 Da
    Quaternary structure:
    • 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 (PubMed:17671431, PubMed:16360038). The complex exists in quiescent cells where it represses cell cycle-dependent genes (PubMed:17671431). It dissociates in S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL2 (PubMed:17671431). Interacts with AATF (PubMed:12450794). Interacts with KDM5A (PubMed:7935440). Interacts with KMT5B and KMT5C (By similarity). Interacts with USP4 (By similarity). Interacts with RBBP9 (By similarity).
    • (Microbial infection) Interacts with SV40 and JC virus large T antigens. Large T antigen, but not E1A, binds only to the unphosphorylated form.

    Three dimensional structures from OCA and Proteopedia for RBL1 Gene

    Alternative splice isoforms for RBL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBL1 Gene

Post-translational modifications for RBL1 Gene

  • Cell-cycle arrest properties are inactivated by phosphorylation on Thr-332, Ser-640, Ser-964 and Ser-975 by CDK4.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RBL1 Gene

Domains & Families for RBL1 Gene

Gene Families for RBL1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RBL1 Gene

Suggested Antigen Peptide Sequences for RBL1 Gene

GenScript: Design optimal peptide antigens:
  • RBL1 protein (Q8WVU8_HUMAN)
  • pRb1 (RBL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P28749

UniProtKB/Swiss-Prot:

RBL1_HUMAN :
  • Belongs to the retinoblastoma protein (RB) family.
Family:
  • Belongs to the retinoblastoma protein (RB) family.
genes like me logo Genes that share domains with RBL1: view

Function for RBL1 Gene

Molecular function for RBL1 Gene

UniProtKB/Swiss-Prot Function:
Key regulator of entry into cell division (PubMed:17671431). Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation (By similarity). Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression (By similarity). Controls histone H4 'Lys-20' trimethylation (By similarity). Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters (By similarity). Potent inhibitor of E2F-mediated trans-activation (PubMed:8319904). May act as a tumor suppressor (PubMed:8319904).
GENATLAS Biochemistry:
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

Phenotypes From GWAS Catalog for RBL1 Gene

Gene Ontology (GO) - Molecular Function for RBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001012 RNA polymerase II regulatory region DNA binding IBA 21873635
GO:0001102 RNA polymerase II activating transcription factor binding IBA 21873635
GO:0005515 protein binding IPI 1331501
GO:0008134 transcription factor binding IPI 16360038
GO:1990841 promoter-specific chromatin binding IDA 25100735
genes like me logo Genes that share ontologies with RBL1: view
genes like me logo Genes that share phenotypes with RBL1: view

Animal Models for RBL1 Gene

MGI Knock Outs for RBL1:
  • Rbl1 Rbl1<tm1Tyj>
  • Rbl1 Rbl1<tm1Htr>
  • Rbl1 Rbl1<tm1Mru>
  • Rbl1 Rbl1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for RBL1 Gene

miRTarBase miRNAs that target RBL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RBL1 Gene

Localization for RBL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBL1 gene
Compartment Confidence
nucleus 5
extracellular 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
peroxisome 0
cytosol 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA 21873635
GO:0005634 colocalizes_with nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm TAS,IDA --
GO:0005667 transcription factor complex IEA,IBA 21873635
genes like me logo Genes that share ontologies with RBL1: view

Pathways & Interactions for RBL1 Gene

genes like me logo Genes that share pathways with RBL1: view

Pathways by source for RBL1 Gene

3 Qiagen pathways for RBL1 Gene
  • Estrogen-mediated S-Phase Entry
  • Macrophage Differentiation and Growth Inhibition by METS
  • Molecular Mechanisms of Cancer

SIGNOR curated interactions for RBL1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006325 chromatin organization IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007049 cell cycle IEA --
GO:0007346 regulation of mitotic cell cycle IBA 21873635
genes like me logo Genes that share ontologies with RBL1: view

Drugs & Compounds for RBL1 Gene

(9) Drugs for RBL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for RBL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RBL1: view

Transcripts for RBL1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBL1 Gene

No ASD Table

Relevant External Links for RBL1 Gene

GeneLoc Exon Structure for
RBL1
ECgene alternative splicing isoforms for
RBL1

Expression for RBL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RBL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RBL1 Gene

This gene is overexpressed in Serum (39.5) and Monocytes (21.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RBL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of RBL1 Gene:

RBL1

SOURCE GeneReport for Unigene cluster for RBL1 Gene:

Hs.207745

Evidence on tissue expression from TISSUES for RBL1 Gene

  • Nervous system(2.4)
  • Adrenal gland(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with RBL1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBL1 Gene

Orthologs for RBL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RBL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBL1 33 32
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RBL1 33 32
  • 92.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RBL1 33 32
  • 92.67 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rbl1 17 33 32
  • 87.61 (n)
rat
(Rattus norvegicus)
Mammalia Rbl1 32
  • 87.48 (n)
oppossum
(Monodelphis domestica)
Mammalia RBL1 33
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 59 (a)
ManyToMany
chicken
(Gallus gallus)
Aves RBL1 33 32
  • 75.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBL1 33
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbl1 32
  • 67.09 (n)
Str.7030 32
zebrafish
(Danio rerio)
Actinopterygii rbl1 33 32
  • 63.66 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rbf 33 34
  • 33 (a)
ManyToMany
Rbf2 33
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lin-35 33 32
  • 45.37 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons RBR1 32
  • 44.26 (n)
rice
(Oryza sativa)
Liliopsida Os11g0533500 32
  • 42.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4619 33
  • 38 (a)
OneToMany
Species where no ortholog for RBL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RBL1 Gene

ENSEMBL:
Gene Tree for RBL1 (if available)
TreeFam:
Gene Tree for RBL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBL1: view image

Paralogs for RBL1 Gene

Paralogs for RBL1 Gene

(2) SIMAP similar genes for RBL1 Gene using alignment to 4 proteins:

  • RBL1_HUMAN
  • E9PNB6_HUMAN
  • H0YE05_HUMAN
  • Q8WVU8_HUMAN
genes like me logo Genes that share paralogs with RBL1: view

Variants for RBL1 Gene

Sequence variations from dbSNP and Humsavar for RBL1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000011456 -- 37,044,097(-) T/C coding_sequence_variant, missense_variant
rs1000031273 -- 37,096,837(-) C/A/T upstream_transcript_variant
rs1000044352 -- 37,003,481(-) A/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000153257 -- 37,096,330(-) G/T upstream_transcript_variant
rs1000154159 -- 37,051,354(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RBL1 Gene

Variant ID Type Subtype PubMed ID
dgv4304n100 CNV gain 25217958
esv3645750 CNV gain 21293372
esv3645751 CNV gain 21293372
nsv1058953 CNV gain 25217958
nsv585951 CNV loss 21841781
nsv585952 CNV loss 21841781
nsv962578 CNV duplication 23825009

Variation tolerance for RBL1 Gene

Residual Variation Intolerance Score: 8.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.87; 48.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBL1 Gene

Human Gene Mutation Database (HGMD)
RBL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBL1 Gene

Disorders for RBL1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for RBL1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RBL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RBL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RBL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBL1 Gene

Publications for RBL1 Gene

  1. Molecular cloning, chromosomal mapping, and expression of the cDNA for p107, a retinoblastoma gene product-related protein. (PMID: 1833063) Ewen ME … Livingston DM (Cell 1991) 2 3 4 23 56
  2. Reversal of growth suppression by p107 via direct phosphorylation by cyclin D1/cyclin-dependent kinase 4. (PMID: 11884610) Leng X … Harper JW (Molecular and cellular biology 2002) 3 4 23 56
  3. Differential roles of two tandem E2F sites in repression of the human p107 promoter by retinoblastoma and p107 proteins. (PMID: 7791762) Zhu L … Chang LS (Molecular and cellular biology 1995) 3 4 23 56
  4. Differential specificity for binding of retinoblastoma binding protein 2 to RB, p107, and TATA-binding protein. (PMID: 7935440) Kim YW … Kaye FJ (Molecular and cellular biology 1994) 3 4 23 56
  5. Inhibition of cell proliferation by p107, a relative of the retinoblastoma protein. (PMID: 8319904) Zhu L … Harlow E (Genes & development 1993) 3 4 23 56

Products for RBL1 Gene