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Aliases for RBL1 Gene

Aliases for RBL1 Gene

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

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 (Retinoblastoma-Like 1) is a Protein Coding gene. Diseases associated with RBL1 include retinoblastoma and bilateral retinoblastoma. Among its related pathways are Gene Expression and Signaling by GPCR. GO annotations related to this gene include transcription factor binding. An important paralog of this gene is RBL2.

UniProtKB/Swiss-Prot for RBL1 Gene

  • 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 KMT5B and KMT5C, 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBL1 Gene

Genomics for RBL1 Gene

Regulatory Elements for RBL1 Gene

Promoters for RBL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RBL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RBL1 Gene

Chromosome:
20
Start:
36,996,349 bp from pter
End:
37,096,000 bp from pter
Size:
99,652 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:
    • Interacts with KMT5B, KMT5C 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.

    Three dimensional structures from OCA and Proteopedia for RBL1 Gene

    Alternative splice isoforms for RBL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBL1 Gene

Proteomics data for RBL1 Gene at MOPED

Post-translational modifications for RBL1 Gene

  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBL1 Gene

No data available for DME Specific Peptides for RBL1 Gene

Domains & Families for RBL1 Gene

Protein Domains for RBL1 Gene

Suggested Antigen Peptide Sequences for RBL1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for RBL1 Gene

Function for RBL1 Gene

Molecular function for RBL1 Gene

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
UniProtKB/Swiss-Prot 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 KMT5B and KMT5C, 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 Ontology (GO) - Molecular Function for RBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008134 transcription factor binding IPI 16360038
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:

Animal Model Products

miRNA for RBL1 Gene

miRTarBase miRNAs that target RBL1

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
Jensen Localization Image for RBL1 Gene COMPARTMENTS Subcellular localization image for RBL1 gene
Compartment Confidence
nucleus 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for RBL1 Gene

Pathways & Interactions for RBL1 Gene

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

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 from RNA polymerase II promoter IEA --
GO:0000278 mitotic cell cycle TAS --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0010467 gene expression TAS --
GO:0016032 viral process IEA --
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

mRNA/cDNA for RBL1 Gene

(10) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RBL1 Gene

Retinoblastoma-like 1 (p107):
Representative Sequences:

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 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, PaxDb, MOPED, and MaxQB for RBL1 Gene



SOURCE GeneReport for Unigene cluster for RBL1 Gene Hs.207745

genes like me logo Genes that share expression patterns with RBL1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 36
  • 99 (a)
OneToOne
RBL1 35
  • 99.56 (n)
  • 99.44 (a)
cow
(Bos Taurus)
Mammalia RBL1 35
  • 92.67 (n)
  • 94.57 (a)
RBL1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RBL1 36
  • 94 (a)
OneToOne
RBL1 35
  • 92.79 (n)
  • 95.04 (a)
mouse
(Mus musculus)
Mammalia Rbl1 16
Rbl1 36
  • 89 (a)
OneToOne
Rbl1 35
  • 87.61 (n)
  • 90.87 (a)
oppossum
(Monodelphis domestica)
Mammalia RBL1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Rbl1 35
  • 87.48 (n)
  • 90.18 (a)
chicken
(Gallus gallus)
Aves RBL1 35
  • 75.54 (n)
  • 80.54 (a)
RBL1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBL1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbl1 35
  • 67.09 (n)
  • 71.46 (a)
Str.7030 35
zebrafish
(Danio rerio)
Actinopterygii rbl1 36
  • 62 (a)
OneToOne
rbl1 35
  • 63.66 (n)
  • 66.08 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rbf 36
  • 33 (a)
ManyToMany
Rbf2 36
  • 24 (a)
ManyToMany
Rbf 37
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea lin-35 35
  • 45.37 (n)
  • 31.72 (a)
lin-35 36
  • 20 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons RBR1 35
  • 44.26 (n)
  • 29.76 (a)
rice
(Oryza sativa)
Liliopsida Os11g0533500 35
  • 42.49 (n)
  • 30.03 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4619 36
  • 38 (a)
OneToMany
Species with no ortholog for RBL1:
  • 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)

Paralogs for RBL1 Gene

Paralogs for RBL1 Gene

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

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 Sequence Context AA Info Type
rs8114297 - 36,998,861(+) CTATC(C/G)ATGGC reference, missense
rs1744765 -- 37,094,427(+) TACTA(C/T)TCCTT intron-variant
rs1744776 -- 37,097,648(+) AAggc(C/T)ggttg upstream-variant-2KB
rs2343032 -- 37,078,348(+) ccatt(A/G)atgat intron-variant
rs1124692 -- 37,011,375(+) TTTCT(C/G)CTAGG intron-variant

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)

Relevant External Links for RBL1 Gene

HapMap Linkage Disequilibrium report
RBL1
Human Gene Mutation Database (HGMD)
RBL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RBL1 Gene

Disorders for RBL1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinoblastoma
  • retinoblastoma, trilateral
bilateral retinoblastoma
retinal cancer
  • malignant neoplasm of retina
sensory system cancer
unilateral retinoblastoma
- elite association - COSMIC cancer census association via MalaCards
Search RBL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RBL1

Genetic Association Database (GAD)
RBL1
Human Genome Epidemiology (HuGE) Navigator
RBL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBL1
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 M.E. … Livingston D.M. (Cell 1991) 2 3 4 23 67
  2. Expression of p107 and p130 during human adipose-derived stem cell adipogenesis. (PMID: 18086563) Ross A.S. … McGehee R.E. (Biochem. Biophys. Res. Commun. 2008) 3 23
  3. Distinct roles for p107 and p130 in Rb-independent cellular senescence. (PMID: 18418057) Lehmann B.D. … Terrian D.M. (Cell Cycle 2008) 3 23
  4. p107 inhibits G1 to S phase progression by down-regulating expression of the F-box protein Skp2. (PMID: 15631990) Rodier G. … Meloche S. (J. Cell Biol. 2005) 3 23
  5. Protein Phosphatase 1 binds strongly to the retinoblastoma protein but not to p107 or p130 in vitro and in vivo. (PMID: 12434308) Dunaief J.L. … Zack D.J. (Curr. Eye Res. 2002) 3 23

Products for RBL1 Gene

Sources for RBL1 Gene

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