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Aliases for RBL1 Gene

Aliases for RBL1 Gene

  • Retinoblastoma-Like 1 2 3
  • 107 KDa Retinoblastoma-Associated Protein 3 4
  • CP107 3 6
  • PRB1 3 4
  • P107 3 4
  • Retinoblastoma-Like Protein 1 3
  • Retinoblastoma-Like 1 (P107) 3
  • Cellular Protein 107 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 unilateral retinoblastoma and retinoblastoma. Among its related pathways are Signaling by GPCR and Disease. 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 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 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

Genomic Location for RBL1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 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.

    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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for RBL1 Gene

Domains 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 :
  • P28749
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 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 Ontology (GO) - Molecular Function for RBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 1331501
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:

miRNA for RBL1 Gene

miRTarBase miRNAs that target RBL1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 4
cytosol 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RBL1 Gene

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

Pathways for RBL1 Gene

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

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:0006351 transcription, DNA-templated TAS --
GO:0006357 regulation of transcription from RNA polymerase II promoter --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with RBL1: view

Compounds for RBL1 Gene

(18) Novoseek inferred chemical compound relationships for RBL1 Gene

Compound -log(P) Hits PubMed IDs
selenourea 67.4 2
flavopiridol 53.1 2
hpvs 50 3
lactacystin 49.8 2
dihydrofolate 38.8 1
genes like me logo Genes that share compounds with RBL1: view

Transcripts for RBL1 Gene

mRNA/cDNA for RBL1 Gene

(6) Additional mRNA sequences :
(8) REFSEQ mRNAs :
(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

Integrated Proteomics: protein expression 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 expressions with RBL1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 99.56 (n)
  • 99.44 (a)
RBL1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RBL1 35
  • 92.67 (n)
  • 94.57 (a)
RBL1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RBL1 35
  • 92.79 (n)
  • 95.04 (a)
RBL1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbl1 35
  • 87.61 (n)
  • 90.87 (a)
Rbl1 16
Rbl1 36
  • 89 (a)
OneToOne
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 35
  • 63.66 (n)
  • 66.08 (a)
rbl1 36
  • 62 (a)
OneToOne
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

Selected 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 MAF
rs1124692 -- 37,011,375(+) TTTCT(C/G)CTAGG intron-variant
rs1139418 -- 36,998,090(-) AATCT(A/G)CTTTT utr-variant-3-prime
rs1275170 -- 37,027,010(+) aaaaa(A/C)aacaa intron-variant
rs1744762 -- 37,093,456(+) caaca(C/T)agtca intron-variant
rs1744765 -- 37,094,427(+) TACTA(C/T)TCCTT intron-variant

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

MalaCards: The human disease database. (3) Diseases for RBL1 Gene including...

Search for RBL1 Gene in MalaCards »

(23) Novoseek inferred disease relationships for RBL1 Gene

Disease -log(P) Hits PubMed IDs
retinoblastoma 93.8 110
tumors 51.1 57
osteosarcoma 36.7 4
myeloid leukemia 33.2 2
cancer 28.6 9

Relevant External Links for RBL1

Genetic Association Database (GAD)
RBL1
Human Genome Epidemiology (HuGE) Navigator
RBL1
genes like me logo Genes that share disorders with RBL1: view

No data available for UniProtKB/Swiss-Prot 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
  2. Differential roles of two tandem E2F sites in repression of the human p107 promoter by retinoblastoma and p107 proteins. (PMID: 7791762) Zhu L. … Chang L.S. (Mol. Cell. Biol. 1995) 3 4 23
  3. Differential specificity for binding of retinoblastoma binding protein 2 to RB, p107, and TATA-binding protein. (PMID: 7935440) Kim Y.W. … Kaye F.J. (Mol. Cell. Biol. 1994) 3 4 23
  4. Inhibition of cell proliferation by p107, a relative of the retinoblastoma protein. (PMID: 8319904) Zhu L. … Harlow E. (Genes Dev. 1993) 3 4 23
  5. Reversal of growth suppression by p107 via direct phosphorylation by cyclin D1/cyclin-dependent kinase 4. (PMID: 11884610) Leng X. … Harper J.W. (Mol. Cell. Biol. 2002) 3 4 23

Products for RBL1 Gene

Sources for RBL1 Gene

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